News Updates Since May 1996
17th Apr 04 Ashley Smith Taken Ill 20th Mar 04 Gladhill Family's New Born Baby Faith is Born 5th May 02 TPI Research In Australia About To Start 4th May 02 Ebony Corscadden Story Photos 25th Feb 02 TPI Research London Update 10th Feb 02 Contact Made with Australian TPI Research Team 8th Feb 02 Ashley Smith Update after Short Illness 25th Nov 01 TPI Research in Australia 7th Jul 01 13 Month Old UK Child Diagnosed with TPI 16th Apr 01 Arthur Schneider, Excellent Historical Perspective TPI Article 6th Apr 01 Special Memorial Garden at Etchells School Opened for James 20th Mar 01 TPI Research to resume soon in Australia 19th Mar 01 Ashley Smith Recovers after being very poorly 7th Dec 00 Second Twin Nicole Fernandes Passes Away aged 17 Months 20th Nov 00 18 Months Old Ebony Corscadden Passes Away Peacefully 12th Nov 00 Snapshot Pictures of James Stewardson's Life 22nd Oct 00 TPI Research Project in Australia should Start in Early 2001 14th Oct 00 USA Twins TPI Diagnosis Confirmed - Tragically Amanda Dies 20th Aug 00 13 month old twins in USA Possible new TPI Sufferers??? 9th Jul 00 Australian Murdoch Research Foundation To Join TPI Research 24th Apr 00 Australian Company Fernwood Female Fitness Centres TPI Fundraising 3rd Apr 00 Maria Jesus Candela Unwell 24th Feb 00 Meeting in London to Decide TPI Research Way Forward 14th Feb 00 Georgia Receives James's 'Child of Achievement award' 4th Feb 00 James Wins Posthumous 'Child of Achievement award' 12th Jan 00 Ann and Art Finish at Kings after 4 Years 20th Nov 99 Our Wonderful Son James Died in Our Arms on Nov 12th 4th Nov 99 James Poorly Again and Ashley in Hospital 31st Oct 99 James Recovering After Breathing Problems 21st Oct 99 National Lottery to Reconsider Lottery App. 20th Oct 99 James Sleep Study Finds High CO2 levels 19th Oct 99 Australian Corscadden Family Fundraisng for TPI Research 30th Sep 99 James Deteriorating Prior to Transfusion!! 20th Sept 99 Letter to Prime Minister Regards Lottery App. 30th Aug 99 Ebony Corscadden's Story Told by Mum and Dad!! 21st Aug 99 James much stronger in last few days!! 7th Aug 99 James 3rd Red Cell Exchange Transfusion 25th Jul 99 TPI Research Team Progressing Well 13th Jul 99 James 2nd red Cell Transfusion 10th Jul 99 2 Month old Australian Child Diagnosed with TPI 4th Jul 99 James Improving Slowly Following Transfusion 23rd Jun 99 James Deterioration Leads to Sleep Study & Transfusion 13th Jun 99 National Lottery Reject TPI Trust Research Grant 5th May 99 Ashley OK, James and Ashley Start Batyl-Alcohol 11th Apr 99 Ashley Smith Hospitalised on Return From Disney 4th Mar 99 New Treatment & James & Ashley to meet again in Florida 6th Feb 99 Sarah Jane Gladhill Memorial Donation of $1,395.00 09 Jan 99 Professor Susan Hollan's New Treatment finding 16 Dec 98 James Stewardson and Ashley Recovered 12 Nov 98 James Stewardson and Ashley Smith Taken Ill 29 Oct 98 Baby Sarah Jane Gladhill Passes Away Peacefully 22 Oct 98 Spanish Family in London for Tests 13 Oct 98 Spanish Child Diagnosed with TPI Deficiency 22 Sep 98 Application to National Lottery for Funding 22 Aug 98 Kings and Hungarian Research Teams Joint Paper 25 Jul 98 Hungarian Team Find DHA Deficiency in James 20 Jul 98 James's May Transfusion Analysis Results 14 Jun 98 Ashley Smith Improvements with Cod Liver Oil 23 May 98 James 7th Red Cell Transfusion and Analysis 4 May 98 James London Transfusion 5 Apr 98 Internet Video Conference 15 Mar 98 Transfusion Analysis 23 Feb 98 James 5th Transfusion 2 Feb 98 James meets Ashley 14 Jan 98 James and Ashley to meet 10 Jan 98 James Red Cell Analysis 16 Dec 97 New Year Meeting 9 Nov 97 New American TPI Case 23 Oct 97 James improvements 5 Oct 97 James transfusions 2 Sep 97 London tests update 21 Jul 97 James tests in London 17 May 97 James Treatment 11 Mar 97 Christies Join TPI Project 27 Jan 97 Jordan Stokes Dies 2 Jan 97 Australian Family Online 10 Dec 96 Bone Marrow for James? 24 Nov 96 James Treatment Report 15 Nov 96 Hungary 1st Year Report 14 Oct 96 James Sister Georgia Born 19 Sep 96 Update on TPI Children 22 Aug 96 Roopen Arya Gene Work 22 Jul 96 Edwin Bouchard Update 8 Jul 96 James Treatment Update 19 Jun 96 James Starts Treatment 16 May 96 James's Mum Pregnant 12 May 96 French TPI Family
Ashley Smith was taken ill and admitted to hospital and is in the Childrens Intensive Care Unit. Because Ashley's CO2 levels were rising, Ashley had to be put onto a portable ventilator.
Further updates to be provided.
Extract from Gladhill family email:
My wife and I were Blessed with another baby girl on Sat. Mar 20 at 3:35 p.m. Faith was delivered C-Section at 38 weeks and seems to be doing great. She weighed 7' 4 oz and 19 !/4 in long. Katie had some blood pressure issues and gestational diabetes this time also. Faith's initial screenings are all normal. It has been almost six years since Sarah Jane was born and we were blessed to learn she had TPI before it was too late. We trust GOd and our doctors just want to make sure everything is covered.
Announcement By Professor Panos Ioannou of the Murdoch Institute.
Research on Triose Phosphate Isomerase Deficiency at the Murdoch Childrens Research Institute (MCRI), Melbourne, Australia.
A project entitled "Cell & Gene therapy approaches for Triose Phosphate Isomerase (TPI)" deficiency has just been initiated by the award of the "Ebony Forbes Corscadden" PhD Scholarship to Mr Alan Ki Kong. Mr Alan Ki Kong will be working in the Cell & Gene Therapy Research Group under the direction of A/Prof Panos Ioannou and Dr Jim Vadolas to develop novel cell and gene therapy approaches for the effective therapy of TPI. It is hoped that many of the techniques that will be developed in the course of this project will also be relevant to other genetic diseases. The project has been initiated by a generous donation of AU$30,000 from The Ebony Forbes Corscadden Treatment & Research Trust, but it is estimated to cost a total of about AU$110,000 over a three year period. For any further information or contributions to support the research of the Cell & Gene Therapy Research Group please contact
A/Prof Panos Ioannou
Tel: 61 (0)3 8341 6232
Fax: 61 (0)3 9348 1391
Mobile: 61 (0) 402 385 440
May 4th 2002 - Ebony Corscadden Story Updated with PhotosA collection of Photos of Ebony have been added to Ebony's Story page. Click here ===> Ebony Photos
Feb 25th 2002 - TPI Research in London UpdateRecently made contact again with Dr. Mark Layton who has moved from Kings College Hospital to head up the Haematology Team at the Hammersmith Hospital in London.
Mark informed me he had made some progress looking at the metabolic consequences of TPI deficiency and how these might relate to the damaging effects on the nervous system.
Unfortunately Mark's team have found it difficult to obtain funding to continue this work. Especially has they wanted to award a fellowship to an outstanding young haematologist who they had hoped would continue this research.
We will see if we can help fund this, but currently we only have about £12,000 in the James Stewardson TPI Trust funds.
Feb 10th 2002 - Contact Made with Murdoch Institute in Australia Who will Soon Be Starting TPI Research ProgramFollowing up from Andrew Corscadden's news about the TPI research in Australia, I made contact with Panos Ioannou the Head of Cell & Gene Therapy (CAGT) Research Group at "The Murdoch Childrens Research Institute, Royal Children's Hospital" in Melbourne, Australia.
Panos is still waiting to appoint a suitable candidate to start the TPI research program.
In the meantime he will send me a update of their aims etc, etc, which I will be able to publish on the TPI web site.
Feb 8th 2002 - Ashley Smith Update in Letter to Lisa Buchanan (Marissa Buchanan's Mum) After Short IllnessAshley got sick right after Thanksgiving with Sinusitis. She was sick at home for three weeks,then her hemoglobin dropped and we had to take her in to the hospital. She had respiratory problems also and had to stay on BiPap 24 hours.
It was a rough time, her haematologist was in New York, and the doctors treating her on the floor were not familiar with her or her disorder. They would not listen to me when she needed to be started on IV fluids or have a transfusion. When Ashley gets sick, and her hgm drops, her veins tend to shut down after she dehydrates. When this happens, she is a hard-stick, and it takes them many tries to find a vein. With the dehydration and also low-grade temperature, her hgm levels come out reading higher than they really are. This time, it got so bad Ashley turned yellow by the third day, and was having a hard time with her breathing. I ended up calling one of the doctors I knew in desperation. He and her doctor were there by the next day.
They got her on fluids (after 4 sticks) and transfussed her. After her unit ofblood, her Hgm only went up to 10. When we arrived at the hospital on Monday,(this was Friday)her hgm was 10.6.
We got out of the hospital that following Monday. I knew we would be back.
In the past years, we found Ashley has a pattern with her hemolysis. When she gets sick, she can fight some infections. If the infection is a long one, like this was, her hemoglobin drops. When that happens, we noticed she slowly drops (hgm). This usually takes three days. In those three days:she is on BiPap(breathing support machine)24 hours, we get her to the hospital.Once there, she has blood drawn for chemical analysis, type and cross match for transfussion(this drawn-blood last for three days),start her on IV fluids(she dehydrates while hemolyzing), draw blood for urinalysis, and take xrays of her chest to make sure there are no problems (pneumonia etc...). This is done right away because Ashley's veins do shut-down quickly with the dehydration, so drawing the blood all at once is time saved. With Ashley, we are usually going against the clock. After blood is drawn, the IV's are put in for fluids and the transfussion. Once Ashley is hydrated, blood is drawn again and we can se her true hgm reading. Transfussions follows within the three days. This is done in the three days(when she drops below 10 hgm).
This time, they kept waiting and waiting. The combination of temperature and dehydration had her reading higher with hgm levels. They released her barely breathing on her own,and with low hgm. Telling us the levels would go up. Ha !
Two weeks later, I noticed Ashley's urine had turned a dark amber color (She had been hemolyzing this whole time,slowly). I have urinalysis dip strips, so I tested her. We rushed back to the hospital. This time, they worked on her for 6 hours trying to find a vein to start IV fluids. Ashley had to go into surgery that evening, for a central-line in her groin. She had dropped below 9 hgm. The next day, she received the second transfussion,which brought her up to 11.6.
While in the hospital, they did a sleep study to check her CO2 and BiPap levels. The results were good. They showed,she was responding to the BiPap. Her CO2 levels are the lowest they have been in four years- 54 (45 is normal).
Slowly, we had to wean her off of the BiPap (calls her Molly) and on O2 through a canula (calls this Carley). This took a couple of weeks. Slowly, she regained her strength. After two and a half months, she is now doing very well, for Ashley. She still requires suctioning with the yanker (she named it, Chuckie),needs the BiPap on and off, since some days she tires more than others.
Now, Ashley runs around in her powerchair (Elisa), is homeschooled through February, just made the Principals Honor roll, and is back with Winners on Wheels(WOW),an organization for children with chairs, and going to her religion classes. She never seems to stop except to get on 'Molly', her BiPap for 'breathers' she calls them.
I have to close. Molly and Ashley are asking, "Where is dinner?"
Lisa , I thought I had your phone number but didn't see it in my address book. The last time we spoke was right after James passed. It was a hard time for me, accepting he was gone and with Ashley, knowing some day, I will have to face life without her. I have resolved a lot of things with Ashley but it will still be so hard to deal with. Ashley is asking about trachs and other ventilator care in the future. I want to ask you what it involves so I can explain to her. I think a mother would be more helpful.
I have sent this letter to Dave and Yvonne, in England, as I told him I would give an update on Ashley after her last sickness.
I hope Marissa is well. We think of her so often. I have to tell you the story of a family that was sharing one of the rooms with us at the hospital. It was like 'God's winking'. Would you send your phone number to me again.
I'd like to keep in touch with you and Marissa. Thanks!
Nov 25th 2001 - TPI Research in AustraliaAndrew Corscadden the father of Ebony who passed away on November 15th 2001 has visited us in the UK several times in the past 4 months. Andrew is working in the UK at present.
The Corscadden family and friends had raised many thousands of pounds to fund a TPI research project in Australia and the Murdoch foundation had agreed to conduct the research program. To date approximately £30,000 Australian pounds has been handed to the Murdoch foundation to start the research program
A further update will be issued with progress on this research.
This last few weeks have been very difficult for ourselves and the Corscadden family with it being the 1st anniversary of Ebony's passing and the 2nd for James. James passed away on Nov 12th 1999, Ebony on Nov 15th 2000. It has been very special to share stories of James and Ebony with Andrew over the past few months.
We will never forget James, his infectious smile and loving nature captured the hearts of everybody he came into contact with and he is constantly in our thoughts and prayers. The massive hole left in our lives will be a constant reminder of our love for James.
July 7th 2001 - 13 Month Old UK Child Diagnosed With TPIThe parents of a UK child contacted us within the last 2 weeks to ask advice regards TPI deficiency, as their child was in Great Ormand Street Hospital in London undergoing tests for TPI.
Within the last few days they have confirmed the 13 month child has been diagnosed with TPI Deficiency.
They are extremely worried and we are offering what advice we can, also Dr. Mark Layton has been involved with the Great Ormand Street Hospital Doctors.
The child is currently in the Intensive Care Unit on a ventilator.
April 16th 2001 - Arthur S. Schneider MD, Excellent TPI Article, "Triosephosphate Isomerase Deficiency: Historical Perspective and Molecular Aspect.""Historical Perspective and Molecular Aspect" 253k PDF file
Arthur S. Schneider, M.D.
Professor and Chair of Pathology
Finch University of Health Sciences/
The Chicago Medical School
3333 Green Bay Road
North Chicago, IL 60064
Arthur Schneider "PRINCIPAL AREAS OF PROFESSIONAL AND RESEARCH EMPHASIS:"
Active teacher and program director, academic department administration, molecular basis of monogenic hematologic disorders.
Recent work has been directed at the molecular genetics of triosephosphate isomerase (TPI) deficiency, a hereditary hemolytic anemia associated with progressive neuromuscular dysfunction. To explain the repetitive occurrence of the 104 mutation in the TPI gene in multiple apparently unrelated families throughout the world, DNA was obtained from all known families with this mutation in order to study the coinheritance of linked polymorphisms. This work has revealed an unusual haplotype, manifest in common in all of the families who carry the 104 mutatation, indicating their descent from a common ancestor. Additional recent areas of inquiry include structural analysis of the TPI protein to elucidate the differing mechanisms by which the thirteen known mutations cause impaired enzyme activity and investigations into the nature of the high incidence variants involving the TPI promoter. This set of polymorphisms, which may perhaps be the highest incidence molecular markers of African lineage,are associated with moderate reduction in enzyme activity and in some instances may contribute to compound heterozygosity and clinical TPI deficiency.. The finding of subjects homozygous for the -5 -8 haplotype is inconsistent with the putative role of this haplotype as the cause of a null variant incompatible with life in homozygotes.
April 6th 2001 - Special Memorial Garden at James's School, Etchells in Heald Green, Cheshire, Opened for James
Etchells School in Heald Green where James spent some of the happiest times of his short life are to open a very special garden on Friday April 6th, named James's Garden, as lasting memorial to James.
James was a very special child and much loved by all at Etchells Primary School, we his parents were so happy that James took to the school and the school took to James. We have many happy memories of his 2 years at Etchells.
Etchells decided to do something very special to remember James and the specially designed garden was the outcome. Paul McDermott of Stockport Direct Services designed the Garden and his design incorporated ideas from Etchells schoolchildren. Some of the schoolchildren's ideas included: -
- seating area
- pegoda (little house)
- path ways for all weathers
The garden cost £15,000, most of which was a government grant, but some of the money was raised by Etchells schoolchildren fundraising.
The opening at 11:00am on Friday 6th April will include the whole school, members of James's family and many friends. There will be a short service with songs before the opening.
Below is the Tribute to James which was read out at James's "Ceremony of His Life" by Etchells Headmistress, Lynn Holebrook and special needs teacher Mrs Edmunds.
"James joined us in September 1997 to our delight. He was as nervous about big school as we were about providing the right education for him.
After a very short time, relationships and confidence grew and many happy times were ahead.
James, from the start, always showed his determination to be an active part in the class. His popularity, especially with the girls, was obvious from the beginning and children of every age liked to chat and joke with him.
We soon began to discover James had many hidden talents.
James the actor – whether he played the Troll or wolf, or Prince Charming on a cruise liner, the funny faces and frightening noises were all part of the act.
James the Doctor – Structured play sessions often turned into Peak Practice as James tried hard to take out Mrs Kemp’s major organs on the operating table.
James the writer – Weird and wonderful stories became his forte, with names such as ‘Poppy poohead’ being just one of the characters in his dictated horror stories and much giggling as the computer read them back.
James the Disco King – What a mover! Arms swinging, head swaying, favourite music playing and surrounded by girls. What more could he want.
James the Grand Prix Driver – Was the playground a dangerous place as he weaved around at top speed in his electric wheelchair?
Was James a chocoholic? We know so from the times he enjoyed being teased about sharing his chocolate snack and from his chocolatey grin!
Was James a snitch? Definitely! How he would gleefully tell tales to Mrs Edmonds and Mrs Holebrook about those he worked with.
Was James a Sciver? At times – one of the best – the times he spent in the toilet keeping us talking, reading or singing (especially with the out of tune Mrs Sambrook) rather than go back to the drawing board.
James and his qualities were loved by everyone. The spontaneous cheering at the 1999 Sports Day epitomised the childrens feelings for James who had his Mum in tow straight down the track.
We thank James’ family for allowing Etchells to share their wonderful little boy. He will always have a special place in our hearts."
Below is part of James's Fathers tribute to James, the bit about Etchells, read out at James's "Ceremony of his life,""
"One of the best decisions we ever made for James was to send him to Etchells mainstream school at Heald Green. We were a bit wary at first about how a class full of able bodied kids would take to James, but because he was a highly intelligent and mature boy we were sure this was what he would want. Our fears were totally unnecessary as the children at Etchells were fantastic with James and he absolutely adored going to school. The teachers and carers at Etchells gave James so much love and attention that I am sure James considered school to be just an extension of his home life.
On the last afternoon of James’s life Mr’s Kemp, Mr’s Sambrook, Mr’s Edmunds and Anna Morgan from Etchells came to say goodbye to James. They sang him his favourite school song, “I’ve Got a Home in Gloryland” and although James couldn’t communicate at this stage, but we could tell he heard and enjoyed it so much. According to Mr’s Sambrook, James always insisted she sang “I’ve Got a Home in Gloryland” and many more songs to him when she took him to the toilet.
The last few minutes of James’s life were spent listening to Grandma read out all the hand-written get well cards from his classmates.
We are so grateful to all at Etchells School for how they made his school life so enjoyable and normal and we know there will always be a special place there for James. We know how much the staff and pupils at Etchells loved James and this helps us come to terms with his loss."
March 20th 2001 - TPI Research to resume soon in Australia
Panos Ioannou, PhD Head of the Cell & Gene Therapy (CAGT) Research Group at the Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville 3052 Melbourne, Australia, has confirmed to Andrew Corscadden (Ebony's Father) that they have appointed a TPI researcher who should start at the Institute by the end of March.
The successful candidate has recently completed a Biochemistry & Molecular Biology course at Monash University from where he has just been awarded a First Class Honours degree. He had already been offered a scholarship at Monash University to continue a PhD in the area of his honours project (immunotherapy of cancer), but he has opted to take on the TPI project because of his interest to work on genetic diseases.
More details to follow when the project starts.
March 19th 2001 - Ashley Smith Recovers after being very poorly
Ashley Smith has recovered after being very seriously ill. Ashley contracted a virus and and had to be rushed to hospital.
Ashley's mum Alice wants to share her experience with other TPI families to show how once again the BiPap "breathing" machine has saved Ashley's life. Below is a email to her family about what happened:
"Dear Joey and Charles,
I just read the letter you sent. I did know you were trying to reach us, in the hospital, dad told me. This was such a difficult and busy time. I didn't have any time, except to focus on Ashley. I did have help from alot of friends and Brian and family.
In the beginning, after the treatments they gave her,her symptoms got so bad. She had round-the-clock things going on.I was learning how to suction her throat and do the same with her nose. She was having treatments every four hours and then had a close call. We almost lost her during the transfussion. They had given her Benedryl before the transfussion so she wouldn't have a reaction to the blood. When Respiratory tried to do an arosol treatment, then suction her. A plug was dislodged and got stuck in her windpipe. She postured, turned blue and her eyes rolled back. It was very scary, but from past experience with her, I grabbed her BiPap mask,covered her face with it, yelled for Michelle to turn her machine on and started knuckling her on the chest and air went in and she started crying. We were all crying by this time,she pulled through. Had to suction her throat to clear it all the way afterwards.She was not at all happy with us.
The trip to the hospital was hair-raising too. It was 1:00 AM and we had unhooked her from her machine for the drive. Brian put Ashley in my car and I drove ahead. Brian grabbed her machine and followed. The fog was so thick along river road. Ash was having a hard time breathing even with 2 litres of O2. By the time I got there, after going 60 MPH, I grabbed her (she was struggling and clear phlegm was coming out of her mouth) and ran into ambulance entrance with her in my arms. I had a doctor grab her and put her on a table. Brian arrived shortly afterwards. I met him in the parking lot and we ran the BiPpap machine inside. We got her stabilized within minutes, seemed like an hour. She had mostly air in her stomach causing her breathing problems.It pushes on her lungs making it hard for her to breath and with the other symptoms she was stessed. Gave her a suppository, that helped to get the air out.
The problem with RSV virus is the thick clear phlegm or mucus is so sticky and is hard to get out except with a yanker on Ashley. She gets too weak to cough or blow her nose. Her CT scan showed she had severe sinusitus(I kept telling them) they put her on some power antibiotics.
She will take Augmentin for 6 weeks for the sinus infection and then maintain low doses until the summer.
Ashley is just about back to her old self. She has cleared up and is zooming around as usual. She completed her standardised testing last week.
Her teacher came to the house every day to test her. She did well. Monday 19th March, we will join Alice and Betty in Florida for five days at Disney. We will pace ourselves.
I'm still trying to get over this experience. It was tough and my knees were knocking and shaking a lot, I was so scared at times to lose her and see her like this. I know the little angels and God were right beside her, I could feel the closeness of a powerful force and knew we were in good hands. How else could she have pulled through.
Thanks for having Ashley in your prayers. They Do make a difference! We will see you at Easter with baskets in hand.
Lots of love and hugs, Alice
Dec 7th 2000 - 17 Month old 2nd Twin Nicole Fernandes Passes Away on Nov 27th
Nicole Fernandes passed away on November 27th aged 17 months. Nicole joins her twin sister Amanda, who passed away on October 2nd.
The twins are together again now in a better place and free from the struggle for life living with TPI deficiency.
Our thoughts and prayers are with parents Ricky and Beth Fernandes.
The Fernandes family live in Arlington, Virginia, USA.
Nov 20th 2000 - Devastatingly Ebony Corscadden Passed Away on Nov 15th
Ebony passed away on November 15th after being admitted to hospital on Nov 10th with breathing difficulties.
Initially Ebony's Doctors didn't think Ebony would make it through the day, but Ebony fought on for a further 5 1/2 days before finally succumbing.
Ebony's parents Andrew and Kelly are so very proud of their beautiful little girl, whose braveness in the face of so much adversity has given them strength.
Below is a poem from James Stewardson to Ebony, written by James's parents:
"Our lives were short and full of pain
Endless frustration as our lives ebbed away
But we were brave for our parents sake
Because their pain was for all to see and bear
One day we will meet them again in heaven
Our pain no more we will jump into their arms
Welcome to heaven Ebony
Nov 12th 2000 - Snapshot Pictures of James Stewardson's Life
Go to "James's Story Index" page to see a pictorial year by year look at James's short life.
Oct 22nd 2000 - TPI Research Project in Australia should Start in Early 2001
17 month old Ebony Corscadden's family have been raising funds for TPI research ever since Ebony was diagnosed with TPI deficiency in June 1999.
The initial intention was to help fund the TPI research project being carried out at Kings College Hospital in London, funded by the James Stewardson Research and Welfare Trust for Children with TPI. However, major tax implications regards sending funds out of Australia and the fact that the London project ended in December 1999 forced the Corscadden family into considering funding a project in Australia in collaboration with Dr. Mark Layton at Kings College Hospital, London.
In recent months the Corscadden family have been in touch with Professor Bob Williamson of the The Murdoch Children's Research Institute (MCRI) and agreement has been reached for them to start TPI research in early 2001.
Below is an extract from correspondence by Panos Ioannou, Head of the CAGT Research Group at the Murdoch Children's Research Institute
"Following the meeting between Prof Bob Williamson, myself, Mr Anthony Blecher and Ms Pauline Apiata last week and our telephone conversation earlier this week, I would hereby like to confirm in writing that the Murdoch Children's Research Institute is committed to initiate a research project on Triose Phosphate Isomerase (TPI) deficiency in 2001.
It is our considered opinion that at this early stage of the project, research should be initiated by the awarding of a PhD scholarship to a suitably qualified candidate. As there is already detailed molecular information available for the TPI gene, the project will concentrate on developing pharmacological and gene therapy approaches to TPI, as well as an accurate transgenic mouse model for the disease. Extensive work is being carried out along these lines in our group for neurological, haematological and liver diseases. TPI research should therefore benefitgreatly from the ongoing work on these other diseases.
This is the best time of the year to lookfor suitably qualified candidates for the proposed PhD scholarship. We have already started advertising the proposed scholarship among this year's honours students and we have several applicants that are interested for the scholarship. We will obviously select the best qualified candidate for this project.
Panos Ioannou Head, CAGT Research Group"
Dr. Mark Layton has already spoken to Professor Bob Williamson at length and Mark hopes to visit Australia in the coming months to discuss a possible collaboration project between London and Australia. This would probably involve London sending a scientist to work with the MCRI, funded by the James Stewardson TPI Trust.
Oct 14th 2000 - USA Twins TPI Diagnosis Confirmed - Tragically Amanda Dies
In previous weeks communication with the twins family Doctor pointed more and more towards the conclusion of TPI deficiency for the twins.
Tragically the email from Dr. Amy Lewanda that confirmed TPI deficiency on October 3rd also contained the news that Amanda Fernandes had passed away the previous day. Amanda became ill and caught pneumonia several weeks before she died
The surviving twin's name is Nicole and the family live in Arlington, Virginia. At the moment we are only able to communicate with the family through their Doctor and a family friend. We hope to make formal contact with the family soon.
August 20th 2000 - 13 month old twins in USA Possible new TPI Sufferers???
13 month old girl twins in Virginia USA are being investigated to find out if they suffer from TPI deficiency. A geneticist, Dr. Amy Lewanda, is currently liaising with TPI specialists in the UK and USA.
Symptoms they have are similar to those of a typical TPI child.
July 9th 2000 - Australian Murdoch Research Foundation to Join TPI Research
Professor Bob Williamson of the Australian Murdoch Research Foundation has been in touch with Dr. Mark Layton at Kings College Hospital in London to agree a collaborative approach to continue the TPI research in Australia and London.
Mark Layton has agreed to meet with Prof. Bob Williamson in Australia, probably in August.
This will mean the Murdoch Foundation furthering the TPI research in Australia and thereby allow the money raised by 1 year old TPI sufferer Ebony Corscadden's family to stay in Australia.
The Murdoch Foundation have set the Corscadden's a target of around £20,000 before they can get the project started
If enough funds are available from the TPI Trust here in England, a London based researcher will possibly join the research team in Australia for up to 2 years. This will enable collaboration between the two research teams and build on the last 6 years of TPI research knowledge at Kings College Hospital, London.
Funds remaining in the TPI Trust account in England currently stand at just over £8,000.
April 24th 2000 - Australian Company Fernwood Female Fitness Centres Raising Money for TPI Research
Fernwood Female Fitness Centres based in Australia is committed to raising $100,000 for TPI Research.
The owner of Fernwood, Di Williams, heard about the plight of baby Ebony Corscadden when money they had raised for TPI research was stolen.
Below is an extract from the Ferwood Female Fitness Centre Web site.
"When Fernwood owner Di Williams saw the heart-warming plight of baby Ebony late last year, she knew that something had to be done. Di watched as parents Andrew and Kelly pleaded for the return of stolen money that was to be used for research into their dying baby daughter’s rare blood disorder.
Di was compelled to assist the young family and the result is a national fundraising campaign led by Fernwood that aims to raise $100,000 for research into the disorder known as TPI Deficiency.
Why are Fernwood involved? This is our chance as Fernwood staff, members, friends and family to come together to create a tangible result that may lead to saving the life of a special child.
With Fernwood’s commitment to health, the community and to families, we hope to provide the platform for baby Ebony and other sufferers to grow into happy and healthy human beings."
On behalf of all the TPI families we express our thanks to Di Williams and all the staff at The Fernwood Female Fitness Centres in Australia
April 3rd 2000 - Maria Jesus Candela Unwell
A Prof. J.L. Vives Corrons email advised that Maria Jesus Candela the only Spanish TPI child had been very unwell. After contacting Michelle a English friend who was interpretting for the Spanish family, she contacted the grandparents of Maria Jesus and gave us the latest news.
Maria Jesus had a stomach virus about 2 months ago which led to complications and her needing to be admitted to hospital on the 24th Feb. Maria Jesus then started to have trouble breathing and needed assistance from a oxygen machine.
Soon after Maria Jesus stopped eating and had to be fed through a tube. At one stage she was given 24 hours to live, but soon after started to improve.
After spending a month in hospital Maria Jesus was released and is now at home. She is still being tube fed as she refuses to eat normally. She has oxygen at night, and during the day she often starts struggling to breathe and to go purple, so she has it then too.
In general she is very listless and doesn't have any energy, she doesn't want to walk, sleeps badly and is agitated most of the time. She isn't following the DHA treatment anymore because the tube feeding interferes with the DHA levels and it didn't seem to be producing any improvement anyway.
The doctors have given Maria 6 months to live.
February 24th 2000 - Meeting in London To Decide TPI Research Way Forward
To coincide with the presentation in London to say farewell to the TPI researchers Ann Humphries and Art Ationu, Professor Alastair Bellinghan has suggested a "Think Tank" meeting to discuss the TPI research way forward also takes place.
It is hoped the meeting will take place during March and all interested parties will be able to attend.
February 14th 2000 - Georgia Receives James's Posthumous 'Child Of Achievement Award.'
Georgia and Mum Yvonne proudly received James's posthumous award from former Prime Minister John Major at the Park lane Hilton Hotel, London.
February 4th 2000 - James Posthumously awarded a 'Child Of Achievement Award.'
James Stewardson was put forward by his school, Etchells Primary, Heald Green, Cheshire for a 'Child of Achievement Award.' These awards are made to 150 very special children each year. An extract from the Child of Achievement Web page reads ....
"The Child of Achievement Awards are given annually to 150 children up to the age of 16, who by their everyday tasks to help others or who by their ability to overcome illness or disability are worthy of the title "Child of Achievement."
The Awards act as an inspiration to other young people, their family and friends of what can be achieved against seemingly insurmountable odds. They are regarded as the most prestigious children's awards in the country and recognize the outstanding achievements of 150 special young people each year."
We have been invited to their once yearly awards ceromony at the Park Lane Hilton in London on Sunday February 6th to receive his award, sister Georgia will receive it on James's behalf.
We are so proud to attend this very prestigous event to honour our son James, this tribute is so wortwhile to very brave boy. A boy who live with adversity throughout his short life, without ever complaining once.
James would have truly enjoyed being part of such an event had he still been alive, we will "seize the day" for James and bottle it up in our memories.
You can find out more about the Child of Achievement registered charity @Child of Achievement Web Page.
January 12th 2000 - TPI Researchers Ann Humphries and Art Ationu Finish at Kings
After 4 years working at Kings College Hospital under first Professor Bellingham and more recently Dr. Mark Layton, Ann and Art finished their 4 year TPI research program on December 31st 1999. Initially the James Stewardson TPI Trust were committed to funding the research for 3 years, but extended for a further year in December 1998.
During the 4 years Ann and Art have been progressing the TPI Research, they made many inroads into further understanding TPI Deficiency and were responsible for James undergoing several treatments during this time. Ann and Art's work followed the TPI research initially started by Roopen Arya back in 1994
We are very grateful for their dedication in trying to find a treatment or cure for James and the other TPI children and their true affection for James. We know how hard they have worked during the last 4 years!! We wish them well in their new careers and know they will stay involved in the TPI research at Kings now and when it resumes in earnest.
A current status report of the Kings TPI research will soon be added to the Kings Research page.
Currently the TPI Trust are looking for additional funding to enable Kings to continue the TPI research. When we have enough funds Kings will employ new scientist/s.
The recently diagnosed 6 month old Ebony Corscadden's family in Austalia are fundraising and have already sent £5,000 to the James Stewardson TPI Trust. It is hoped the TPI Trust will soon be able to fund the TPI research at Kings, and in again Hungary under Professor Susan Hollan.
November 20th - James Died in our Arms at Home at 8:20pm on Friday November 12th
Our wonderful son James passed away at home in our arms at 8:20pm on Friday 12th November. James fought long and hard during his last 3 1/2 days. James had been deteriorating with his breathing over the last 3 weeks and we were trying to get him onto a bi-pap (partial ventilator) at Booth Hall Children's Hospital, bi-pap has kept Ashley Smith alive these last few years.
Tragically for James he couldn't take to the bi-pap and in the midst of trying he caught an infection and his body no longer had the strength to work with the machine.
On Thursday morning we decided to take James home to allow friends and family to visit him at home and say goodbye, we still held out some hope that he would get over the infection and stay with us a bit longer.
He kept on fighting during the next 36 hours at home and soon after all his friends and family had spent time with him, he finally went to sleep in our arms knowing he was as loved as any child could possibly be.
We never thought this day would come and are struggling to cope, but James's strength and resolve in fighting this terrible disease for 6 and 1/2 years gives us the strength to fight this last battle for him. James's sister Georgia knows James is now in heaven, where he will be able to do all the things he couldn't do down here on earth.
We have so many very special memories of James and these memories will survive any passage of time and live with us forever. "James our son, you are forever in our thoughts."
James's funeral was held on Friday 19th November at his church, the Hazel Grove Baptist Church in Stockport. We wanted James's funeral to be a celebration of James's life and we were not disappointed. The service was very uplifting for Yvonne and I and was attended by many hundreds of James's special friends and others who only knew James briefly. Such was James's appeal, he will have a place in so many hearts and memories.
At the moment we are thinking of spreading James's ashes at his most favourite place in the world, Disneyworld's Magic Kingdom in Orlando.
In James's memory we will continue to host the TPI web site and front the TPI research at Kings College Hospital, London, and under Professor Susan Hollan in Budapest.
The fight to find a treatment or cure for TPI deficiency goes on and we hope and pray this is achieved in time for Ashley Smith, Ebony Corscadden, Marissa Buchanan, Daniel Johnson, Edwin Bouchard and Maria Jesus Candela.
For information on how to make donations for the TPI research in James memory click here.
James's "Celebration of His Life" Tribute, click here => to Download
(Word97 Doc, 1.1mb)
November 4th - James Poorly Again and Ashley in Hospital
James required oxygen assistance again on Monday 1st Nov after having had a good weekend. The weekend ended with James spending a scheduled Sunday night in Booth Hall Childrens Hospital to try out a bi-pap machine, unfortunately he didn't take to it.
Due to James requiring oxygen again during the day and being generally very tired and lethargic, we decided james was too poorly to go on the Florida holiday, starting November 4th, which was organised and paid for by the "Childflight" charity run from Manchester Airport. As you can imagine James was very disappointed, but understands he is too poorly to have enjoyed the holiday.
We will try James again on the bi-pap machine tomorrow.
Ashley from the USA was hospitalised last weekend also, Ashley caught a cold and became quite poorly. Ashley's HB dropped and she was given a blood transfusion, this helped and Ashley is on the road to recovery.
October 31st - James Recovering after Breathing Problems
James update via email sent to Alice Smith (mum of Ashley) in USA:
Sorry for not being in touch, we have had a bad 2 weeks with James but think today he has turned the corner and is on the road to recovery. It started 2 weeks ago when he had a slight temperature and was struggling a bit with his breathing, his sats had been slowly dipping into the low 80's. We took him into hospital for blood tests to see if he had any sort of infection. His white count was high indicating he had but the tests proved inconclusive and nothing was found, his chest was ok etc,etc. The following week he got weaker by the day and then last Sunday the same sort of breathing problems and we again took him into hospital to get him checked over. Again nothing was found but by this time his oxygen levels were not high enough on his own, they we falling into the low 70's when off the oxygen. So we had to put him on oxygen all day, as you know he has oxygen for sleeping.
This last week he has been very tired and weak and dependant on the oxygen and we feared the worst. We were hoping his next transfusion, which he had last Thursday 28th October, would give him a boost. Unfortunately during the transfusion he had an allergic reaction, he was covered in a rash almost like blisters. He was given piriton and hydro-cortisone and it eventually cleared. During the reaction he was struggling for breath and trying vomit, It was quite frightening. Worse was to come soon after the transfusion finished, he became quite sleepy and his pulse dropped and temperature dropped and he started sweating again this was very scary. However, he eventually pulled through as he usually does.
To make things worse, on Thursday night the Doctor who will be looking after James and some of the other children on next weeks Disneyworld trip phoned to say they wouldn't be taking James because of his current condition. This was because Yvonne had alerted them to the fact that James might need oxygen support during the day and that we might have James on a bi-pap machine in time for the trip. Also the special care consultant who has seen James twice recently recommended he doesn't go. As you can imagine we were devastated for James and Georgia as they are so looking forward to Disney. We have asked that they delay the decision a few more days to see if James improves, but the Doctor seems adamant that James shouldn't go. If he is not well enough we wouldn't want him to go and we feel this should be mainly our decision, as you know Alice, we know much better that the Doctors how our children are!
Today, Saturday, James is much , much better. he woke early at about 6:15am thanks to Georgia running around and after he came around seemed much brighter. We took him off the oxygen for a short spell of about 30 mins and his sats remained in the 80's, great for James!! We then decided to take him shopping to his favourite toy store without oxygen, he just got better and better, perhaps the oxygen has some side effects, higher CO2 or something. Any way he has been without oxygen all day now and seems fine, his sats were around 90 for most of the day. Lets hope he has a good sleep and continues tomorrow.
Couple of things we have noticed recently with James, which you may have experienced with Ashley:-
1) The centre of James's tongue has been a funny colour for a couple of weeks, it started as a browny orangy type colour and today is almost black. It could be the vitamins which contain iron or perhaps the blood transfusion, any ideas?
2) On a couple of occasions these last few weeks he has complained of slight pains in his legs, it started tonight when I put him in the bath, his leg stiffened up a little, almost like a cramp?
3) His involuntary movements of the wrists, hands and fingers seems to have worsened a little. He seems to almost be fidgety, the movements are not dramatic and can vary in time between and sometimes are not there at all. Does Ashley have these?
Tomorrow night James goes into hospital to try out a bi-pap machine, the consultant who is organising this is the one that recommended James doesn't go to Disney. We hope James is well enough tomorrow and the consultant reconsiders. If we don't manage to get on the trip on Thursday, we may come under our own steam to coincide when Ashley is there from November 17th.
James is in bed now with mum and seems to be settling down.
Dave, Yvonne, James and Georgia."
October 21st 1999 - National Lottery to Reconsider TPI Research Grant
Our appeal to the director of the National Lottery Board has resulted in our TPI medical research grant application being reconsidered. No response has been received from the Prime Minister Tony Blair or Culture Secretary Chris Smith.
The TPI Trust has just about enough funds to fund the research until the end of 1999, Kings College Hospital need confirmation soon about funding into the year 2000.
October 19th 1999 - Corscadden Family in Australia Fundraisng for TPI Research
The Corscadden family are forming a charity in Australia to raise funds for the TPI research. They have already raised a considerable amount with the help of Grandad Steve Sawbridge and their determination should ensure funds will be available to continue the TPI research into the year 2000.
They are currently finding out how best to ensure the money they raise goes towards the TPI research and not in taxes to the Australian government.
September 20th 1999 - Letter to Prime Minister Regards Lottery App. Refusal
Letters written the Prime Minister Tony Blair, Culture Secretary Chris Smith and National Lottery Director Gerald Oppenheim asking for their reconsideration of the refused Medical Research grant application made earlier this year.
For more information as to why our application was refused, see here
July 25th 1999 - TPI Research Team at Kings Update
Kings are progressing well with the TPI research program and will provide a full update of their recent progress and future research very soon.
My understanding of current progress on two aspects of the research based on a long conversation with Dr. Mark Layton at Kings is:-
- The development of a TPI enzyme from a cow is progressing well. The TPI gene has been cloned and soon they will purify the enzyme and look to package via red cell transfusion. This work is being done in collaboration with a Scottish Lab. and a team at St George's in London. If the above is successful a manufacturer to produce the enzyme will have to be found, Mark Layton is soon to meet with a major pharmacutical company soon to discuss.
- Testing a drug that will switch the TPI gene "on" in vitro. If it can be proved the use of this will reduce the DHAP levels, it is possible this will be ready for TPI children within months.
- More of the teams research papers are due to be published. News of these to follow.
July 10th 1999 - 2 Month old Australian Child Ebony Corscadden Diagnosed with TPI
Below is the first communication with Ebony's family, sent by Ebony's Grandfather Steve Sawbridge.
"Ebony Corscadden was born 5 weeks premature on 15th May 1999 and 4 hrs after birth she was rushed to Westmead Children's Hospital in Sydney's where she was diagnosed as having very high levels of billirubin. After 2 weeks of blood test's by Dr. Lammi Ebony was diagnosed with TPI Deficiency.
Blood sample's of the family have been sent to Kings College Hospital in London to confirm the diagnosis.
Ebony was under lights for two weeks and the billirubin levels dropped, she was not given a blood transfusion. We are still in the dark about proceeding with anything.
Kelly and Andrew were told to take Ebony home and look for information on the Internet and as they have no means to do this, I am their go between.
Yes I found you from your home page and I have compiled pages of the information together to enlighten us all on the subject. I hope this is not to jumbled I have been reading and printing the information all night and I am just going to deliver this to the kids. Hope to hear from you soon, all the very best to you and your family and send our love to James from across the World.
We will be hoping a solution can be found to save our kids."
Since the first communication we have been in regular contact. Ebony was given a blood transfusion on June 30th and is currently visiting relatives with Mum and Dad kelly and Andrew.
More info about Ebony and family will be added during the next few weeks.
June 13th 1999 - National Lottery Reject TPI Trust Medical Research Grant
On October 31st 1998 and after considerable effort involving Dr. Mark Layton from Kings College Hospital London and Dr. Andrew Will from Royal Manchester Childrens Hospital, the James Stewardson TPI Trust submitted a application to the National Lottery Medical and Social Research Grants body for an additional 2 years funding of the TPI research.
The TPI Trust's 3 year funding for TPI research at Kings was due to end at the end of December 1998, but because it would be April 1999 before we would know if the grant application was successful we committed the TPI Trust to fund the research at Kings until July 1999. This was subsequently extended to the end of 1999.
On Saturday June 5th 1999 we received the awful news that our grant application had been rejected. it had been rejected on 2 grounds:
1)We did not submit 2 independent reviews of the research proposal
2) Our accounts had not been independently audited
With regards to 1) the independent reviews of the research proposal, according to the application pack this only applies to grants for "Social Research" ours is a medical research project and as we understood only required 1 independent review.
With regards to 2) Our Accounts were sufficient to meet the Charities commission's needs.
We will appeal if we can and/or write to the appropriate heads of within the National Lottery to reconsider our case.
When appropriate we will apply again!!
Interestingly, if you check out the National Lottery web site @ http://www.nlcb.org.uk/ (look in the "past awards, specialist page) you will be able to see where almost £25,000,000 pounds went! Of the approx. 150 successful applications, there were 12 projects each in Islington and Camden and many more in London that received grants!!
We will now have to consider how we can raise a further £150,000, on top of the £325,000 we have raised in the last 4 years, to keep the TPI researh going into the the year 2000. This research represents the only chance our son James and the other 6 children world-wide have of finding a treatment or cure for TPI Deficiency.
May 5th 1999 - Ashley OK, James starts on the Batyl-Alcohol Treatment and Ashley soon too follow.
James has started taking Batyl-Alcohol contained in a product called Alko-Mar which is made from Shark Liver Oil.
Alko-Mar comes in small capsules and James has 6 per day, they each contain 500mgs of shark liver oil and 250mgs of alkoxyglycerols.
From various investigations by James's Manchester Haematologist, Dr. Andrew Will, the Alko-Mar seems to be the best product which contains batyl-alcohol.
Ashley is due to start taking Alko-Mar within the next few days.
Only time will tell if batyl-alcohol will help James and Ashley and the clinical analysis of James taken before he started the treatment will be used as a baseline for improvement.
April 11th 1999 - Ashley Smith very poorly on return from Disney World
Within days of Ashley returning from Disney World Orlando, where the Stewardson's and Smith's spent a week together, Ashley became ill and was admitted to hospital. Ashley had contracted the Para Influenza II virus.
The virus affected Ashley's respiratory function quite badly and she required partial ventilation, Ashley's inability to exhale CO2 properly was quite serious at one stage. Happily, Ashley was eventually well enough to go home on Friday 9th April after spending almost 2 weeks in hospital.
During the early part of Ashley's illness she was given 2 units of blood which helped lessen the affects of the hemolytic aspects of the virus. Ashley appears to be none the worse neuromuscularly.
During the week Ashley and James were together, they shared many wonderful moments at the Disney World and Universal Studios Theme Parks.
Photographs will be available to see from this site soon!
March 4th 1999 - James Stewardson should soon Start Batyl-Alcohol Treatment and James and Ashley Smith to meet again in Florida
In recent weeks Professor Susan Hollan (Budapest), Dr. Mark Layton (Kings College Hospital) and Dr. Andrew Will (Royal Manchester Childrens Hospital) have progressed with getting James started on the batyl-alcohol treatment. Susan Hollan and Andrew Will have both contacted Dr. Holmes of the University of Michigan, USA, and determined the suppliers of batyl-alcohol (Sigma) and the recipe used for treatment in perixsomal disorders. They now have that information and Andrew Will is pushing forward. We hope to get James started as soon as we return from Florida on April 1st.
On March 18th we go to Orlando, Florida with James, sister Georgia and older brother Christopher for 2 weeks holiday. We have arranged to meet Ashley, Brian and Alice Smith (Ashley also has TPI Deficiency) who will be there from March 20th to 27th. This will be the 2nd time we have met the Smith's in Orlando, we spent 4 days with them in January 1998.
James loves the theme parks in Orlando and can't wait to ride again on Thunder Mountain! Ashley meanwhile can't wait to see James and Georgia and to repeat the wedding ceromony with James, last acted out in a Orlando restaurant!
James is doing very well and continues with his daily 10mls of folic acid and 5mls of cod liver oil.
James is still doing his special exercises almost every day and continues to improve slightly.
James was given a nerve conduction test at the Royal Manchester Childrens Hospital on the 12th February 1999, this was to get a baseline before the batyl-alcohol treatment programme starts.
The comments from the test were: Motor nerve conduction units are slow. Muscle action potentials are low and no response was obtained for the common peroneal. Sensory nerve action potentials are normal but sural sensory conduction velocity is low.
February 6th 1999 - Sarah Jane Gladhill Memorial Donation of $1,395.00
We received a donation of $1,395 (£827.00) raised separately by the Camby Community Church, $895 and the Monroe Guaranty Insurance Company $500, in memory of Sarah Jane Gladhill.
The TPI Trust very much appreciate the donation in Sarah Jane's name, but are very very sad that Sarah Jane succumbed to this terrible disease. This donation will, in part, hopefully ensure the TPI research teams at Kings College Hospital in London and Professor Susan Hollan's team in Budapest can continue the search for a treatment or cure.
Sarah Janes family will be promoting TPI awareness in the USA over the coming months and hope Sarah Janes passing can motivate others to help the TPI Trust research project in finding a treatment or cure for the remaining 6 TPI children still alive.
January 9th 1999 - Professor Susan Hollan's New Treatment finding
Professor Susan Hollan is suggesting some alternative treatments aimed at supplementing the decrease in plasmologens she has found in James and the Hungarian brothers, this moves on a step from the DHA treatment.
Susan Hollan and Dr. Mark Layton met in London during the Christmas period and agreed that James and the other TPI children should start the new treatment asap. We expect James to start within the next few weeks. An extract from professor Susan Hollans papers include:-
"The most important finding from this point of view is the decrease in plasmalogens. This lipid compound of cell membranes is absolutely essential for basic neurological functions. It seems very important to supplement the lacking plasmalogen. This may be achieved by cod liver oil which contains high levels of different kinds of unsaturated fatty acids, essential for the synthesis of plasmalogens. DHA is just one kind of highly unsaturated fatty acid and therefore from the point of view of raising the plasmalogen levels it is irrelevant whether the patient has low DHA levels or not.
There are a number of other research groups who achieved very promising results with the administration of oral ether lipids. In addition they could prove that these are absorbed and put into plasmalogens in different tissues and at low rates evens into the plasmalogens of the brain. The infants who received these other ether lipids , especially who received batyl-alcohol (1-0-heptadecyl-sn-glycerol) exhibited subjective improvement of nutritional status, liver function, retinal pigmentation, motor tone and improvement of the vision impairment due to optic atrophy. We would like to begin clinical trials with the latter compound."
It will be important to accurately clinically assess the TPI children prior to and during the batyl-alcohol treatment to ensure any improvements are clinically noted.
James will undergo his clinical assessments under Dr. Andrew Will here in Manchester.
It is hoped the other TPI children will also take part in this treatment.
December 16th 1998 - James Stewardson and Ashley Smith Well Again
James and Ashley both recovered quite quickly from their recent illness's. James was almost back to his normal self within a few days of his transfusion and was back at school just 7 days after the transfusion.
Ashley also required a red cell transfusion, but because the family and Doctors had acted quickly, Ashley also recovered within a few days. In fact just recently Ashley has for the first time in almost 2 years slept in her own bed, and not with mum and dad!
This is only possible due to Ashley's continuing improvements, which allows mum and dad the peace of mind that she can get through the night on her own OK.
November 12th 1998 - James Stewardson and Ashley Smith Taken Ill and Require Blood Transfusions
In the last week both James and Ashley became ill and required hospitalisation.
James started becoming floppy and had a temperature on Friday 6th November. For the next 4 days James attended the local hospital where is red blood count went from 9.5 on Friday to 5.8 on Sunday. His complexion became very jaundiced and he looked as bad as we have ever seen him and he was very floppy.
On Monday 9th November is count was still only 5.9 and after consultation with Dr. Andrew Will at the Royal Manchester Childrens Hospital and Dr. Mark Layton at Kings College Hospital London it was decided to transfuse James. He was given 230mls of red blood cells and immediately the colour returned to his face.
Now 3 days later James seems to be on the mend and for the first time in a week managed to do some of his exercise routine. The next few days will confirm if he is over the worst.
Ashley Smith only become ill within the last 36 hours, we received a e-mail from Auntie Betty to confirm this. Ashley's mum Alice thought Ashley was going down with something when she last e-mail'd on Tuesday. Her red blood count is low and her spleen enlarged and it seems Ashley will, and probably already has, undergone a red cell transfusion.
October 29th 1998 - Baby Sarah Jane Gladhill Passes Away Peacefully aged 5 Months
Today we received the devastating news that baby Sarah Jane Gladhill lost her brave fight for life aged just 5 months.
We received this e-mail from Sarah's brave and loving family.
"Dearest Dave, Doctors and all TPI families:
It is with our deepest regrets that we must inform you that our Precious angel-Sarah Jane joined the Lord on Tuesday morning at 7:40 a.m. while at home.
We were desperately awaiting an answer about more blood work from the TPI trust info line. Sarah became ill with a fever on Sunday 10-25-98 and late Sun eve she began to have erratic breathing-this continued through Monday and her pulmonary specialist thought she probably wouldn't make the trip back home from his office. We being the optimistic and God loving family that we are, opted to have her closest family and our minister meet at a local park. Sarah regrouped and her color seemed to get better in the sun and she even was able to enjoy a ride down the spiral slide, swinging, a merry-go-round ride and last, but not least a teeter-totter ride with her older brother. We then took her home for a family cookout and after giving her back to the Lord again ventured on through the night. Sarah woke many times and even ate and did her business throughout the night, we read, sang prayed and listened to her favorite instrumental music too. She opened her eyes wide and sighed her last big sigh of comfort and relief at around 7:35 and at 7:40 Sarah stopped breathing, went to sleep and rose to join the Lord! We praise GOD for all the past 5 1/2 weeks that she was able to hang in there and fight to spread God's work throughout the states.
We are appealing to you first, please make Sarah's short but brief part of the TPI experience known via your news updates and homepage.
Secondly, if our bloodwork can help further research, please contact us or our doctors immediately!
Last but not least, PLEASE let us know where we can forward donations to the trust research in Sarah's name ASAP-we are holding services on Thursday October 29, 1998 at our church and her funeral services will be on Friday Oct. 30, 1998. We have requested donations for the TPI trust research be made in Sarah's name to our church and then as soon as you notify us where to send the money, we will forward it onto the program.
Sarah was 5 months & 6 days old. Sarah's blood count on Tues. 10-20-98 was hemoglobin 11.6, hematocrit 37, retic 24. So that aspect was very good. Sarah had been nursing and taking a bottle throughout the last 6 weeks and even through Sunday evening, she continued to nurse.
We will strongly pursue the most rigid awareness campaign here with guidance from Dave (We hope) and we know that the Lord is over seeing this research and wish to continue to be a part in it! **** If you need further verification of Sarah's diagnosis, please contact any of the CC: noted doctors at their addresses.
DAVE--PLEASE- we look forward to seeing Sarah honored on your Home page!
We would also like direct mailing addresses as we would like to forward some info and letters onto you directly via the US postal service.
Thanks again for all the info we were able to obtain and we will continue to pray for the rest of the children and their families. PLEASE Keep in touch--In GOD's Love-
Katie, Ken, Kenis and Justin."
We will of course keep in touch with Sarah Jane's family and put Sarah Jane's story with the other TPI children's on the TPI Trust Home Page.
Here is Sarah Jane's Story
October 22nd 1998 - Spanish family in London for Wide Range of Tests
The family of Maria Jesús Candela, Mum Maria, Father Alfonso, Grandfather Eloy, Maria Candela herself and English translator friend Michelle arrived in London on Monday 19th October for tests.
They will spend about 10 days at Kings College Hospital under Dr. Mark Layton and Dr. Roopen Arya undergoing many clinical tests. These will include blood, neurological and nerve tests. Also, blood from Maria has been sent to Dr. Martinez back in Spain to test her DHA levels. If Maria is proven to be deficient in DHA then a DHA treatment protocol will be agreed. We (James's mum and dad met the family and English interpretor Michelle whilst they were in London) See photograph of Maria and Family in London with Yvonne and Dave Stewardson.
October 13th 1998 - Spanish Child Maria Jesús Candela Diagnosed with TPI Deficiency
In april 1998 the uncle of a Spanish child diagnosed with TPI deficiency contacted us after finding our Web Site. Over the next few months we advised the family to contact our doctors at Kings College Hospital in London to confirm the diagnosis, contact was made but little progress was made. Then in late September we received a phone call from a English woman living in Spain called Michelle, who was translating for the family. Since then we have been in constant touch with the family through Michelle.
Maria's diagnosis of TPI deficiency was confirmed by Dr. Mark layton at Kings College Hospital on Friday 9th October.
It is very likely that Michelle and the family will come to Kings in London for further tests within the next few weeks.
For more about Maria Jesús Candela
September 22nd 1998 - Application to National Lottery for further funding.
Funding by the James Stewardson TPI Trust for the 3 year TPI research program at Kings College Hospital, London is due to end at the end of 1998. However, because of the progress made and the research that is ongoing, the Trust has agreed to fund for at least a further 6 months pending a new proposal from Kings which will be followed by a application to the National Lottery to meet the funding needs.
August 22nd 1998 - Kings London and Hungarian TPI Research Teams to Produce Joint Paper
With the confirmation that James is also DHA deficient, as is the neurologically affected Hungarian TPI patient, the London and Hungarian TPI Research teams are producing a paper regarding their findings. They hope to present their findings to the American Haematology Conference later this year.
July 25th 1998 - Professor Hollan in Hungary Research Breakthrough
Samples from James were sent to Professor Susan Hollan in Hungary to check whether James had a DHA deficiency. Professor Hollan had found this deficiency in the Hungarian TPI brother showing the neurological symptoms of TPI deficiency, the other TPI deficient brother, without neurological symptoms, did not have the DHA deficiency.
Since Professor Hollan discovered the DHA deficiency, the Hungarian brother, James, Daniel Johnson and Ashley Smith have been taking Cod Liver Oil. Cod Liver Oil, in conjunction with a DHA drug was proven to help in cases of DHA deficiency in a paper written by Dr. Martinez in the early 1990's.
The next stage will be to organise a course of the DHA drug treatment for all the TPI children. Professor Hollan and Dr. Mark Layton will produce a treatment protocol in the very near future. In the meantime James and the other children will continue with daily Cod Liver Oil and in James and Ashley's case there are definite improvements in their general movements. Daniel Johnson has only been taking Cod Liver Oil for a few weeks and we have not heard how he is progressing.
July 20th 1998 - James's May Transfusion Analysis Results
The analysis taken after James's transfusion in May at Kings College Hospital, London, has confirmed that his DHAP levels fall dramatically and his enzyme levels increase when given donor red blood. The results were very similar to those obtained from the Royal Manchester Childrens Hospital December 1997 transfusion and analysis.
This leaves us, James's parents, and the doctors with evidence that a BMT might help James, but without conclusive proof the neurological aspects will be helped or arrested. We have decided to allow James to continue with the Cod Liver Oil and DHA treatment for the immediate future, putting off a decision about a BMT until later in 1998.
June 14th 1998 - Ashley Smith Improvements with Cod Liver Oil Treatment
Ashley's mum has recently e-mail'd us to report on Ashley's progress since starting on the Cod Liver Oil treatment about 4 months ag. For more details read Ashley's story home page update.
May 23rd 1998 - James 7th Red Cell Transfusion
James went to London for 3 days on Tuesday 19th May for his 7th red cell transfusion, all his previous transfusions had taken place in Manchester. The transfusion was done at Kings in London to ensure the analysis by the Kings scientists Dr. Art Ationu and Anne Humphries would be on blood of James and the control sample that did not have to travel. The previous analysis on blood sent to Kings from Manchester had produced some unexplainable differences and therefore did not give 100% reliable results.
James was transfused about 1700mls of red cells with about 200mls of saline. The amount he was transfused was based on his body weight of 3st 7lbs and HB prior to transfusion of 8.1. Unfortunately after the transfusion his HB was about 18.8 and James had to have about 300mls of blood removed to bring his HB down to a more reasonable level. The following day James's HB was at about 13.
Due to the traumatic problems associated with James's portacath not working properly when the transfusion started, the transfusion was put back a day until Weds 20th May. James required a line to be inserted near his groin for the transfusion.
After the transfusion, it was intended to put James through some neuro physiology tests and to video James doing exercises etc,etc. However, these tests were cancelled due to James's state, James did however briefly see the paedeatric neurologist Elaine Hughes.
We should find out within the next few days if, as expected, complementation has taken place from the donated red cells of the TPI enzyme to James's white cells and the DHAP levels in James's white cells has reduced. This will help decide if James might benefit from a BMT from sister Georgia.
May 4th 1998 - James London Transfusion
James underwent his 6th red cell transfusion on March 19th and we all expected this might be his last before the possible BMT. However, there was a problem with one of the control samples sent as part of the February transfusion analysis, and to allow the Kings team to be absolutely 100% sure of the complementation from red cell to other cells of the TPI enzyme, James will have his next transfusion in London on May 18th. James will stay in London for about 3 or 4 days for the post transfusion analysis.
April 5th 1998 - James and Ashley's familes Video Conference
At long last we and the Smiths in Louisiana have successfully launched our regular video conferences over the Internet. After many teething and technical problems we started seeing and hearing each other several weeks ago and now conference every few days. This is especially great for James and Ashley as they recently met in Florida. Ashley is also thrilled to see James's sister Georgia, who she adores!
James underwent his 6th red cell blood exchange on March 19th at the Royal Manchester Childrens Hospital. James was given approximately 830mls of red blood and this time had a reaction shortly afterwards when he vomitted. The reaction seemed to be a one-off and James was fully OK soon after.
The recent analysis taken after James's 5th transfusion will be repeated when James undergoes his 7th Transfusion in late April. This is required because some of the control samples taken with James's blood during the recent analysis did not travel too well from Manchester to London and could not be used. The corresponding samples from James were OK and clearly confirmed complementation was taking place. However, the next transfusion will take place in London and the various samples will be analysed immediately at Kings College Hospital by the Kings TPI research team.
Once the results from this transfusion are fully known a meeting will be set up in London of all concerned to discuss the next step. Because the next step for James may well be a bone marrow transplant (BMT), it is imperative that we, James's family, and the Manchester and London doctors and scientists are in agreement that a BMT is the right thing for James.
March 15th 1998 - James Transfusion Confirms Good News
After James's red cell transfusion on February 11th, samples of James's and scientist Trevor Carr's blood were taken before, immediateley after, 24hrs after, 6 days after, 8 days after, 2 weeks after and 3 weeks after transfusion and sent to Kings at London for analysis. Trevors blood was taken to be used for control purposes in the analysis due to the need to package and transport the samples to London.
The analysis results have still to be officially confirmed by Kings, but it seems the enzyme levels in the white cells and plasma rose by up to 100% immediately after transfusion with the DHAP levels falling by a similar amount. Over the next 3 weeks of analysis, after 1 week the enzyme and DHAP levels in James's white cells and plasma were at about 75% up and down respectively, at 2 weeks 50% and at 3 weeks almost back to the levels prior to the transfusion.
This confirms the earlier research undertaken by Art Ationu and Anne Humphries at Kings when complementation of the TPI enzyme was achieved on James's cells in vitro, now we know it actually works in James cells via the red cell transfusions.
The net effect of this indicates that James should benefit from a bone marrow transplant from 18 month old sister Georgia, who is a perfect match. The decision regarding James undergoing a BMT now rests with Dr. Andrew Will, Dr. Mark Layton and ourselves, James's parents. The likelyhood is that James will undergo a BMT in May or June 1998. If the BMT is successful, it should mean that James will have the normal levels of the TPI enzyme in his red cells, which will then complement other deficient cells.
The net effect this complementation will have on James is still unknown, but we do know that James has benefited from these red cell transfusions and when you consider the low volumes of blood used, apart from his last transfusion when he received about 850mls, the effect on James if the BMT is successful could be very dramatic. At the moment a BMT is James's best and probably only chance to either correct or redress the effects of TPI deficiency.
James will continue to have the 5 weekly transfusions for the time being.
The TPI Trust has sent a further £20,000 to Professor Susan Hollan in Hungary, this brings the total to £55,000 which the trust has granted to the Prof. Susan Hollan's TPI research. It is expected that Prof Hollan will soon receive cells from James to enable her to extend her research.
February 23rd 1998 - James undergoes 5th Red Cell Transfusion
James Stewardson underwent his 5th red cell transfusion on Wednesday 11th February. James was given approximately 850mls of purified red cells. As usual the effects were immediate regarding his skin colouring becoming more normal and less anaemic looking. James general movement and strength also appear to be much better. The analysis following this transfusion should determine the way forward for James. Samples were taken before, immediateley after, 24hrs after, 6 days after, and 8 days after transfusion and sent to Kings at London for analysis. These samples were also shipped with control samples taken from one of the Royal Manchester Childrens Hospital (RMCH) Scientists, Trevor Carr. It is hoped the results are similar to those after the December transfusion, which showed a reversal in the metabolic block in the glycolytic cell pathway in James's white cells and plasma. This indicated that complementation from the donor red cells to the white cells and plasma had taken place. Early indications of the analysis are "looking promising" according to Dr. Andrew Will of RMCH.
February 2nd 1998 - James and Ashley with their families meet in Florida.
James Stewardson and Ashley Smith and their families spent 4 days together at Disneyworld in Florida from Tuesday 20th to Friday 23rd January. James and Ashley are 2 of only 6 children in the world who suffer from TPI deficiency, a enzyme deficiency. James and Ashley both had a wonderful time at the Magic Kingdom, Epcot and Sea World and got on famously together. Both families were amazed at the similarities of James and Ashley in looks, personality and characteristics. Further details and photos will be added within the next few days.
14th January 1998 - James Stewardson and Ashley Smith with their families are to meet at Disneyworld in Florida on Sunday Jan 17th
The families of James and Ashley will meet during family holidays in Florida on January 17th. This will be the first time that any international TPI children have met. James is very excited as I write this on the evening before we fly out. He is also doing very well and still improving generally, which seems to be as a result of his current transfusion treatment.
10th January 1998 - James December exchange blood transfusion results analysis - TPI Meeting Outcome
Results from the biochemical analysis of James's blood taken before, immediately after and 24 hours after his exchange transfusion on December 12th look very encouraging. In the pre and post transfusion analysis the levels of TPI enzyme found in the white cells were higher and levels of the substrate DHAP were lower. These results indicate that the reversal of the block in metabolism could be detected in James’s cells and complementation of TPI from red to white cells is actually happening. This further indicates a BMT might be a possible treatment for TPI deficiency. These tests will be repeated after James undergoes his next transfusion in February. For more information seeTreatment page.
The TPI progress meeting took place at Kings College Hospital, London on January 7th 1998. Professor Susan Hollan from Hungary, Dr. Mark Layton and Dr. Roopen Arya from Kings, the 2 Kings TPI Research Scientists Art Ationu and Anne Humphries and James Stewardson's parents attended. For more information see TPI Research project progress page "London Meeting."
16th December 1997 - London TPI meeting in New Year and James undergoes exchange blood transfusion
A TPI progress meeting is being arranged by Dr Mark Layton at Kings College Hospital, London for January 7th 1998. Professor Susan Hollan from Hungary, James Stewardson parents and possibly Dr Warrier from America will attend. The aim of the meeting will be to discuss the way forward for James's treatment, in light of his current series of red blood cell transfusions, and to decide which areas the TPI research should go. The treatment route is looking more and more likely to be a bone marrow transplant from sister Georgia early in 1998.
Professor Hollan is hoping that London and Hungary can work together more closely in finding a successful treatment for TPI deficiency.
James underwent his 3rd blood transfusion, this time an exchange, in 3 months on December 12th. The transfusion was preceded by the insertion, under anaesthetic, of a porta-cath. This was required to enable an exchange transfusion to go ahead, James's veins are too collapsed in his hands, arms and feet to easily insert lines. James was given about 450mls and blood samples were taken before, immediately after and 24hrs after for analysis. The samples should give the team at Kings some indication as to whether the successful work in the lab on James's red cells, which proved the enzyme levels could be increased by complementation, is working now in James due to the transfusions. James continues to do well and it does seem he is benefiting from the transfusions. Further nerve conduction tests on James will probably happen on Jan 5th or 6th 1998 when we are in London. These tests might prove categorically that James is benefiting from the blood transfusions. They may also be inconclusive.
9th November 1997 - New American TPI Case
The Auntie of a 17 year old American boy with TPI deficiency, Sue McBay, has found our Internet site by chance. Her Nephew Steven Brewer was diagnosed with TPI deficiency in the first few months of his life in 1980. Steven has been on a ventilator since he was 1 year old. The family did not know of any other TPI cases world-wide!! More about Steven will appear on the American cases page as soon as his family provide more information.
23rd October 1997 - James is showing slight signs of benefit from his first of a series of monthly blood transfusions in Manchester
James has shown signs of improvement since his first transfusion almost 3 weeks ago. For the first few days after the transfusion his cheeks were rosy red and he seems to be using his hands and arms much better, he has started to, just about, put food to his mouth again and he generally seems stronger. We look forward to his next transfusion on November 7th.
5th October 1997 - James Starts Transfusions in Manchester
James Stewardson begins a series of red cell blood transfusions on Monday 6th October at the Royal Manchester Childrens Hospital. Over a period of the next few months James will undergo very specific transfusions of young red blood cells. It is hoped that James's HB levels will rise from his normal range of 9 to 11 to about 15 or 16 and that eventually James's red blood cells will be almost totally doner cells. This should mean that the TPI enzyme levels in James cells will be very much higher than his normal levels. During this period James will be constantly monitored to see how the raised TPI in his red blood cells affects him. It is hoped that the nerves and muscles will respond to the raised TPI enzyme levels. The main benchmarks will probably be nerve tests, as it has been proven by James muscle biopsey tests at Kings during the last few weeks, that the main weakness stems from the nerves sending messages to his muscles rather than the muscles themselves. This treatment will help to prove that a BMT might help James, it will not prove that a BMT will not help James!
2nd September 1997 - James returns from London Tests
James underwent many tests during his 4 day stay at Kings College hospital in London. These included various brain and nerve tests, a bone marrow extract, heart tests, neurological assessments, physical assessments including benchmark video, blood tests and a muscle biopsey. Blood was also taken simultaneously from sister Georgia in Manchester and sent to London. James was very brave throughout. The next step is for the family and medical teams to meet in the coming weeks after further work by Kings on James's muscle and bone marrow to decide a way forward for James. If the research goes as expected, it will indicate a bone marrow transplant might help James. James's 11 month old sister Georgia is a perfect match for James.
21st July 1997 - James to London for Tests
Whilst we await the call from Dr Andrew Will at the Royal Manchester Childrens Hospital to start James on red blood cell transfusions, James goes to Kings College Hospital in London on August 5th for tests. Professor Bellingham's team will take a muscle biopsy and extract some bone marrow from James. This will enable the team to further determine whether a bone marrow transplant or cord blood transfer from sister Georgia might help James. So far the team have been able to reverse the metabolic block in James's blood cells and in donor muscle in cell culture, which is very encouraging. They need to do the same tests with James's muscle. The bone marrow will be sent to Christies Patterson Institute in Manchester for special cell culture tests. James will also be assessed by Consultant Paedeatric Neurologist Elaine Hughes whilst there.
James is doing very well in some aspects but not so well in others. Whilst he continues to gain height and weight, he is now average for his age in both, we can see the deterioration in his ablity to use his hands, arms and lower legs. He can still manage to ride his battery operated car and motor bike and ride his specially adapted 3 wheeler bike, although he needs a very flat or slope to ride the bike!
17th May 1997 - James Treatment?
Whilst the medical teams at Kings College Hospital, the Royal Manchester Childrens Hospital and Christies Patterson Institute continue to determine whether or not a bone marrow transplant might help James, they are considering starting James on a series of special red cell blood transfusions. This could start to happen within the next few weeks and may also help determine how a bone marrow transplant will affect James.
11th March 1997 - Christies to join TPI project
The world famous Patterson Institute at Christies Hospital in Manchester, England is set to join the TPI research project, which is currently working on two fronts, Kings College Hospital, London and the National Institute of Haematology, Budapest. Professor Dexters team at Christies have developed a gene delivery system, which they hope to use soon to help patients suffering from Hurlers Syndrome. This is one of the areas they may be able to help with future gene therapy for TPI Deficiency. Other areas are also being pursued for this collaborative research with London and Hungary. This may result in the 'James Stewardson TPI Trust' funding work in Manchester.
27th January 1997 - Jordan Stokes Dies
Jordan Stokes aged 2 years and 10 months and the youngest TPI patient still alive, passed away peacefully at home in bed with his Mum and Dad, Rachel and Brendan just before midnight on Friday 17th January 1997. Jordan's condition had started to deteriorate on New Years Day and nothing more could be humanely done to prolong his short life. Jordan leaves behind so many people who's heart he has touched. His huge eyes and wonderful smile will stay forever with those people priviliged to have known Jordan.
2nd January 1997 - Australian Family Online
The Australian TPI family the Johnston's are now 'online.' This means that 4 of the TPI families can be contacted by E-mail. For more info about contacting the Johnston family see Daniel Johnston's page.
10th December 1996 - Georgia Match for James
Dr Andrew Will - Consultant Haematologist at the Royal Manchester Childrens Hospital conveyed the news that James Stewardson's 8 weeks old baby sister Georgia is a perfect blood match. This means that the umbilical cord blood taken at Georgia's birth, or her bone marrow could be used for a future Bone Marrow Transplant. It is now the task of the TPI research team at Kings College Hospital to determine if a bone marrow transplant will help.
24th November 1996 - James Treatment Report
See report issued by Kings College Hospital detailing James Stewardson's TPI Deficiency treatment at Kings in July 1996
13th November 1996 - Hungary 1st Year Report
We have received the first year progress report from Professor Susan Hollan of the National Institute of Haematology, Blood Transfusion and Immunology, who has been conducting collaborative TPI research with the Kings College Hospital TPI research team. Her research was funded with the help of a £15,000 grant from ourselves, The James Stewardson research and Welfare Trust for Children with TPI. Professor Hollan is attempting to determine why one of the 2 Hungarian TPI brothers is free of the neurological manifistations of TPI Deficiency. This work is progressing well and they now need further funding to continue this valuable TPI research for another year, at a cost of £20,000. The trustees of the trust are currently considering this request, and if granted it will require further fund-raising by the trust. The TPI research team at Kings College Hospital have indicated their agreement that the collaborative TPI research with Hungary should continue.
14th October 1996 - James Sister Georgia Born
The long awaited arrival of James Stewardson sister, Georgia finally happened on Saturday 12th October at 07:00hrs. Georgia and Mum Yvonne are both doing fine, Georgia weighed in at 5lbs 12ozs. Georgia was tested for TPI deficiency at 12 weeks gestation by Kings College Hospital via a DNA test, specifically developed by Kings. There was a 1 in 4 chance any child of Dave and Yvonnes would be TPI deficient, 2 in 4 chance of it being a carrier and 1 in 4 of it not being affected. Georgia is the latter, totally unaffected. The umbilical cord blood has been extracted from baby Georgia and is being analysed by specialists from The Royal Manchester Children's Hospital, for possible future use as a treatment or cure for brother James. There is a 1 in 4 chance that the 'cord' blood will be a match for James and therefore suitable for possible use in a future Bone Marrow Transplant or gene therapy treatment.
19th September 1996 - Update on TPI Children
We are still awaiting James's treatment results from Kings. This Home Page has now been visited by more than 500 people. Please do not hesitate to e-mail us with information or help, we will respond to all.
Update on the TPI Children
James is continuing to improve slightly in all aspects, and his weight gain now seems to be fairly consistent. James now weighs his heaviest ever at 26lbs.
Edwin Bouchard in France continues to improve, and he is managing to spend a little more time off the ventilator.
Ashley Smith in the USA recently underwent a 'Sleep Study' overnight. The findings seem to indicate that Ashley's breathing in her sleep does seem to be affected by TPI Deficiency. The affects of this are not really known, although there may be a link to the neurological problems in experienced by TPI children.
Daniel Johnston in Australia is doing well.
Jordan Stokes in Chesterfield, England, has been experiencing muscle spasms for some months. His Doctors now seem to have found something that helps to control these muscle spasms, which makes his life much better.
We have heard through the USA Smith family that Marissa Buchanan is also doing well and managing to occasionally come off the ventilator.
22nd August 1996 - Roopen Arya Gene Work
We are still awaiting James's treatment results from Kings. Dr. Roopen Arya of Kings will send the results within the next 10 days. The delay has been caused by Roopen being unable to complete the report detailing the results before leaving recently for further bio-chemical research, which could only be achieved in Boston USA, on the TPI families genes. This work will hopefully explain why non-codon 104 mutations of the TPI gene seem to be less severe.
James is continuing to improve slightly in all aspects, and his weight gain now seems to be fairly consistent. James now weighs his heaviest ever at 25lbs 7ozs.
22nd July 1996 - Edwin Bouchard Update
We are still awaiting James's treatment results from Kings. However, we have seen some definite minor improvements in James since the treatment.
We have received a letter and pictures of Edwin Bouchard from his father in France. Edwin is beginning to show some signs of progress and is slowly being weened off his ventilator. See Edwin's picture and the latest news of his progress at: Edwin Bouchard latest
8th July 1996 - James Treatment Update
James Stewardson has finished his treatment at Kings. The treatment involved a series of tests before, during and after the 5 daily sessions of plasmapheresis, which involved replacing James's plasma with that of donor plasma. Over the next 2 weeks the team at Kings will be analysing the data to determine if the TPI enzyme levels in James were increased during the treatment.
19th June 1996 - James Starts Treatment
James Stewardson is due to start a form of treatment for TPI on Monday June 24th at Kings College Hospital, London. Professor Bellingham's team have devised a experimental therapy that has been successful in the laboratory in enhancing the TPI enzyme activity within cells from James. I am expecting a 'update' regarding this news from Kings any day. This update will be added to the Research Progress page at: TPI Research Progress
16th may 1996 - James's Mum Pregnant
Yvonne Stewardson (James's Mum) is pregnant and expecting a baby girl in October 1996. The baby was given a pre-natal diagnosis test at 11 weeks gestation at Kings College Hospital and found to be clear of TPI, not even a carrier! The test performed, was only possible because of the TPI research work Dr. Roopen Arya has done at Kings on TPI during the last 2 years.
12th may 1996 - French TPI Family Find us on the INTERNET
A French family from Marseille who have a 4 year old boy Edwin BOUCHARD also suffering from TPI, have found us on the INTERNET. I received a e-mail only last night, they are desperate for information about TPI, just as we were when James was diagnosed 2 years ago. I have e-mailed the family and will be sending them information. I will also update the Home Page with all their details in due course.