James Stewardson History
Last updated: 20th November 1999
The following is a record of James's progress, recorded by his family.
Born 29th May 1993 - Passed Away 8:20pm 12th November 1999
Delivery: Emergency Caesarean Section, brought on by Foetal Distress, Maconium Staining and face Presentation.
At 8 hrs 20 mins post delivery James was noticeably jaundiced, had a Billirubin level of 252, a blood transfusion was given 2 hrs later, at which time his billirubin level was 198. A complete exchange transfusion was given.
Up until this time no noticeable abnormalities in James's development apart from a problem with his eyes, the GP had noticed that James had Nystigmas, a condition that causes the eyes to have difficulty in fixing on a target, and his stance became awkward with a definite lean to one side. Also when lay on his back his posture was a bit twisted from the bottom of his spine. The GP. arranged for a Hip Xray which indicated all was OK orthopaedically.
We were still worried about his posture and insisted on a Orthopaedic opinion, a spine Xray was arranged which again found nothing wrong.
James started to become lethargic and his head started to drop backwards onto the back of his neck from time to time. Looking back this may have been happening for days or even weeks, without it really being apparent.
James was obviously not very well, and we went to our GP. who gave him a thorough examination and prescribed anti-biotics, said he had a throat infection. James became very irritable later on that day.
We noticed James was slightly jaundiced and called out the GP. She immediately admitted James to Stepping Hill Hospital, Stockport. On admission James Haemoglobin level was very low at 6.3 and he started to stiffen up noticeably in his arms. At this time for few days he struggled to eat and drink, but the eating came back the drinking did not. We have had problems with his drinking ever since, but his eating is fine.
James was left to fight whatever the infection was alone due to the need for various blood tests etc,etc. But his haemoglobin level increased to about 9.3. At this stage James was transferred to Royal Manchester Children's Hospital for more tests, and underwent a MRI scan, and various other tests.
After seeing the Neurologist Dr Clark, it was determined special blood tests would have to be carried out, for which they would have to get prepared, we decided to take James home. At this stage James could hardly support his head, had the lost the ability to sit unaided and refused all attempts to get him to drink. Within a day of James arriving home he began to pick up in all aspects apart from the drinking.
James had improved remarkably and was not far off physically from before he took ill, his mental capabilities are still very good and he seems to be very bright. We are told James is suffering from Triosephosphate Isomerase Deficiency (TPI). The prognosis we are given is death before the age of 6, but usually within the first 2 years of life.
Went to visit Professor Bellingham at Kings College, London, he had diagnosed James and were told he was the leading person in England. Again we are given no hope for James but are told they are researching TPI to locate the faulty gene.
Visit RTMDC in England.
James continues to get stronger, still stiffness in his arms, stance seems to be improving, drinking also better but not normal.
Professor Bellingham agrees to put together a research program into TPI to be funded by a charity we will set up. I have formally requested in writing that he submits a program with all the costs etc,etc involved, and returns ASAP.
The JAMES STEWARDSON RESEARCH AND WELFARE TRUST FOR CHILDREN WITH T.P.I CHARITY is launched, application forms sent to Charities Commission.
Dr Will at Royal Manchester Children's Hospital takes more blood to determine James's ability to fight infections, quite a complicated white blood cell test.
Bank account for above charity opened at Barclays Radbroke Hall branch, account No 20585599.
James is now sitting up on is own albeit not as well as before his illness, he can clap hands, kick a ball and stand up. His Nystagmus appears to be improving, his eating and drinking is very good and he continues to improve in all aspects.
James's starts to become lethargic, and he becomes reluctant to eating and drinking.
James develops a temperature of 101 to 103'. Over the following weekend we struggle to keep his temperature down and visit the GP each day, she suspects a virus, he will hardly eat or drink. GP prescribe Amoxycillen.
GP admits James back to Stepping Hill Hospital. Blood count down to 5.3, James is put on a drip. Over the next 2 days James hardly moves and sleeps most of the time. Develops spots on his neck and upper body, these seem to change into small blemishes.
James Blood count drops to 5.1, James becomes very irritable, will not eat or drink.
James starts to improve and his Blood count goes up to 6.3.
James continues to improve, starts to eat and drink a little, Blood count up to 7.0. We take him home for the weekend. Over the weekend James continues to improve in all aspects apart from sleeping, he has become very attached to Mum, especially when he wakes up from his not too often sleeps.
Back to hospital, Blood count now 9.1, James allowed home.
Apart from James's reluctance to sleeping and the 'panic' he seems to experience when he wakes up, all seems to be as before the virus of last week. No apparent further loss of skills.
Dr Will advises James does not have MMI immunisations until further blood tests.
James has made a remarkable recovery and is doing very well, getting stronger by the day.
Attend meeting at Royal College of Pathology in London to discuss and agree Research program to help James.
Official charity number 1039664 is granted.
Dr Will advises James can have MMI immunisations, this goes ahead and James shows no adverse affects.
James continues to improve, he is almost sitting again now, can kick a ball, stand up, eating and drinking normally. He seems determined to fight this all the way. Generally, he is mentally normal but physically affected. He still refuses to stay on his stomach, but we are encouraging this more and more now. His weakness appears to be in his Trunk area.
James gets stronger each day, he is achieving more and more physically, we are very encouraged.
James develops a slight temperature, over the next few days his eating goes off and he develops a choking type of cough. G.P. thinks it is just catarrh that he can not clear.
James seems to be over the worst after a few sleepless nights during this bout of minor illness. It now seems to have developed into a cold, his head was very sweaty at times, very clingy to mum.
James is improving all the time. Managing to sit on his own for longer periods now.
James starts to look very tired, intermittent temperature, generally looks unwell.
Starts to refuse food and drink, very irritable. GP checks him over and can find no problems with chest, ears, nose throat etc,etc. We alert Stepping Hill Hospital with a view to taking James in.
Take James in to hospital for blood count which is down to 7.0. James still very reluctant to eat and drink. We see no point in keeping James in hospital, preferring to nurse him ourselves at home.
Back to hospital for blood count, still no improvement, blood count down to 5.3. James is now being tube fed 600 ml's of milk per day. We return home with James, nurse will visit twice a day. However, James has developed a cough which appears to be caused by phlegm collecting in his throat. The cough causes James to vomit most of the milk each time he his fed.
Return to hospital with James, blood count up slightly to 5.5, thoughts of a transfusion put off. Slight infection in James ears and chest, azithromycin prescribed. James is still being tube fed.
James now eating and drinking again, tube out, blood count 7.0. James slowly recovers from what Dr Lacey thinks was a virus.
James's 6 monthly heart check at Royal Manchester Children's Hospital proves all is normal. Blood count taken, back up to 9.0
James's talking, sitting and general well-being is improving daily.
James has been saying a few words for about 6 months, recently he has added a few more. His current vocabulary consists of:- mama, daa, car, up, down, in, out, book, more, brm brm, bath, back, apple, pat, jack, that, track, door, draw, choc choc, yum yum, bus, yuk, yes no.
James's eating has been very bad for about 2 weeks now, manages only about 6 teaspoons of most meals, if any at all. Will eat spaghetti though and the occasional yoghurt and he drinks a lot during the night. Despite this he his still developing mentally and physically. Although he is losing weight, he has started to crawl on his own. albeit only 4 or 5 yards. He definitely understands all we say to him, and takes delight in doing or saying the opposite of what you want him to do, and his vocabulary now includes:- 'in dads car', 'open door', 'in door', 'there it is' 'airplane in sky' and more.
James has started to purposely make himself vomit when upset, typically when we are trying to give him folic acid or sometimes feed him. This has happened about 6 times in recent weeks.
James was weighed on Monday 20/03/95 and his weight is still dropping, was 20lb 5oz on Thursday 9/3/95, now 19lb 10oz, although his eating is a lot better. Dr Lacey is still monitoring the situation and James is now being weighed weekly. He seems OK in himself and his understanding and vocabulary continue to improve. We have made James a set of parallel bars about shoulder height and 6 ft long, which he happily uses to walk along.
We made the decision today to start tube feeding James due to his weight loss and reluctance to eat. He immediately became very upset and lethargic and clung on to mum for dear life. It was hoped we would be able to feed him normally and supplement his feed with the tube, but James refused to eat normally.
James has slept for virtually all of the 10 hours the tube has been in. We decided to remove the tube due to how traumatised he has become, he immediately picked up and within a few minutes was back to his normal mischievous self.
James's eating is quite good and he is in fine form!
James's eating still not consistent. He is being weighed now every Monday, weight today 19lb 12oz.
James sees the neurologist Dr Clark, he is very happy with his improving motor skills but notices James's weight loss and muscle wastage! He is of the opinion James is fed directly into his stomach ASAP. We decide to leave a bit longer but making that decision.
Bad day for eating, Yvonne has James weighed and he is 20lb exactly.
Try a different eating strategy of making no fuss with his meals, seems to work he has a good eating day without any histrionics. Weight 19lb 12oz.
James weighs in at 20lbs exactly.
James is being awkward with his eating again, forced himself to vomit after his dinner 2 days ago because we tried to make him eat all his pudding! Otherwise he seem very bright.
James's weight is fluctuating at about 20lb 5oz, is eating is still very awkward, and it is hard work for mum and dad. He is looking much better though and he seems much stronger, his crawling is also improving, he must be burning up more calories now. Generally he seems very happy, his talking and understanding are excellent. The problem areas are definitely his eating and the fact that Yvonne has to sleep with him to make him go to sleep. He his still forcing himself to vomit from time to time when he gets upset.
Still having problems with James's eating, although he seems very happy, alert and content. His weight is now 20lb 8oz.
James has a very complex MRI Brain Scan in London under the supervision of Dr Mark Layton. The test was to look for any signs of brain damage or metabolic disorder, none was found. James had to undergo a general anaesthetic prior to the scan.
James has not starting eating properly since the general anaesthetic, his weight has dropped to its lowest ever 19lbs 11oz and he is very thin and weak. We are currently waiting for him to have a gasterostomy.
James starts to eat very well, we don't know the reason why, but his weight starts to increase.
James is eating well and now weighs 19lbs 15oz.
James weighs 20lbs 6oz and he seems very happy and strong, he has recently managed to climb the stairs unaided.
James has lost 2oz this week and he is starting with a cold.
James is still progressing well physically, his height is about average and he continues to do a little more week by week. He is now managing to climb the stairs, albeit very slowly. His ability to ride the motorised 3 wheeler motor bike improves all the time, he can now very easily negotiate the steering.
James weighs in at a remarkable 21lbs 6oz.
James becomes poorly, not sure if it is Flu or a Cold. GP examines James and prescribes Amoxycillen anti-biotic, his chest appears to be clear but his throat is sore. Over the next 3 days James eats and drinks very little and spends most of his time on mum's shoulder.
James seems to be a lot better and he is eating and drinking again. He seems no worse for his illness.
James weighs 21lbs 2oz, not bad considering his recent illness.
James has a Flu jab today, seems to have taken it OK.
James's conversation skills are very good, he fully understands most conversations and is now putting together more than 5 word sentences.
James has recently undergone a barium meal test to look at his swallowing and stomach muscles, all seemed relatively normal! He has also had a echo cardio test, which again seemed normal.
James's weight is now 21lbs 8oz, we can not understand how he is slowly gaining weight, his eating habits are still awful. What we are managing to do is get 10oz of milk with polycell added into him overnight. Very bad last 3 days, only eaten small amounts of ice cream. We decided to take him into Stepping Hill Hospital because he was getting weak and floppy due to his lack of eating, on the way he decided to eat most of his dinner rather than go to hospital, so we relented. He fully understands our concern over his eating and seems to be playing on it!
James's has weight gone down to 21lbs 4oz. We are not surprised his eating has been awful this last week.
Weight still 21lbs 4oz. Slightly relieved because he still refuses to eat normally, he seems to have gone from eating either chocolate cake for most meals to bread, butter, sugar and milk in a cup!
James's physical progression appears to be in a state of limbo and has been for some weeks. I think this is mainly down to his starvation diet, when he does eat a good meal he seems a lot happier and stronger. His understanding and vocabulary are improving all the time, he can sing several verses of his favourite carols and recites his favourite nursery rhymes. He loves being with other older children who will play with him, his face lights up when his cousins or young friends play with him.
James's weight is still slowly climbing, weighed 21lbs 13oz today, Dr Will is quite concerned and notes that James was similar weight at the age of 18 months, his height is average though. James seems very strong and lively at the moment.
James has an appointment with Dr Andrew Will at Royal Manchester Children's Hospital, we have not seen Dr Will for quite some time. James haemoglobin level is good at 10.9. Dr Will is going to start the search for a bone marrow transplant donor, this is to ensure we do not waste valuable time if it is thought at a later date James will benefit from a bone marrow transplant.
We are beginning to find more evidence that James's vision is not 100%, he does not seem to be able to fully dustinguish people at more than about 5 metres, although we can not be sure.
James's weight still climbing, 22lbs today! Started to sleep through the night last few nights and even managed a long sleep during the last 2 afternoons, most unusual!
We have struggled with James this past week, he has become more lethargic, possibly weaker and is proving more difficult to feed. Not surprisingly he has lost weight, back down to 21lbs 8oz, a loss of 8oz in a week!! However, he continues to amaze us with his mental capacities, seems to be very bright and intelligent! His grandmother recently told him that her dog Bonnie had gone to heaven, James replied 'To be with God nana?' . We have recently started to massage James much more often, he loves having his neck, tummy and back massaged. This may well be having a positive effect in him, there seems to be a sensitivity about James and his skin, and we have had this confirmed from other TPI parents.
James's height is measured, he is 89 centimetres, which is within the normal range for a child of his age.
James's weight is 22lbs 13oz, he is gaining 3 or 4 ozs most weeks now.
James becomes poorly, not sure if it is Flu or a Cold. GP examines James and prescribes Amoxycillen anti-biotic, his chest appears to be clear but his throat is sore. Over the next 3 days James eats very little.
James looks very poorly, he seems to be going downhill very quickly. We decide to admit him to our local Hospital, Stepping Hill. The consultant was very concerned, his pulse was down to about 80 and his red blood count was down to 6.4. After much difficulty, James's veins were very difficult to locate, a Plasma intravenous drip was inserted into James's foot.
James began to respond to the Plasma quite quickly and his pulse returned to a relatively normal 120. At this point the consultant applied a strong anti-biotic via the drip because he thought James had a chest infection
James has suffered diaoreha for the past 24 hours, his regular consultant Dr. Lacey thinks that James's chest is not infected and stops the anti-biotics. His red blood count has risen slightly to 6.6. and his reticulites are measured at 56%, this means his bone marrow is working overtime to produce red blood cells. James is slightly better but still poorly, eating very little. James is put on a fluid drip overnight.
James much brighter today, red blood count up to 7.6. He has started to eat again so we decide to take him home.
James continues to improve, red blood count up to 8.3.
James has had a mixed month. His weight has fluctuated between 22lbs 13oz down to 22lbs 5oz, his weight on Monday April 29th was 22lbs 10oz.
James had his 3 monthly appointment with the Haematology Senior Consultant DR. Andrew Will at Royal Manchester Childrens Hospital a few days ago. The search by Dr. Will for a 6/6 bone marrow donor was unsuccessful, he will now try for a 5/6. This is in readiness for a bone marrow transplant, should it be seen as beneficial.
James seems to have lost a little strength in his arms since his illness a few weeks ago, although Yvonne and I differ on this, Yvonne does not think James is any different! I base this on the fact that James does not want to crawl around as much, when he does crawl he soon stops to rest his arms. Another factor may be that he wants to walk all the time, he is forever asking to be walked. To achieve this we hold him under the arm pits to support him and he throws his liitle legs forward, he can work up quite a pace! The only problem with this is the back pain we now all suffer from.
Over the last few days James has been experiencing little blisters/spots, in small proportions, all over his body, but mainly on his arms and legs. At first we thought it might be chicken pox, but we are now sure it is some form of reaction to cold and heat. James has always had a problem controlling his body temperature and we know his skin is very sensitive.
James has put on weight over the last 2 weeks and seems to be very well, his blisters seem to have gone. He now weighs 23lbs 8ozs.
James has continued to put on weight and seems to be very well. He now weighs 24lbs 2ozs. On Monday June 24th 1996, James is due to start a form of treatment under Professor Bellingham at Kings College Hospital, London. This is the first ever attempt to treat the enzyme deficiency. We expect to be in London with James for about 2 weeks, it should be apparent within the first few days of treatment whether it may be successful.
James has continued to make some noticable improvements since his return from treatment in London on the 5th July. This is remarkable considering James had an allergic reaction to the treatment on the 5th and final day, which resulted in him spending 48 hours on a ventilator in intensive care. We are still however at the moment awaiting the results of the treatment from London. James weighed in today at 24lbs 9ozs.
Dr. Will checked James's red blood count during our regular 3 monthly appointment, it was very good at 11.0.
James continues to improve, his weight is now 25lbs 7ozs. James has started to crawl around the house again much more often, and he now seems to be quite happy and content playing with his assortment of toys. He no longer requires almost 100% attention! His general well being does seem to be very much on the up. We have recently successfully taken James off nappies, he now only wears trainer nappies during his sleep, which are mostly dry each morning
James weighs in at 26lbs, his eating is continuing to improve. He is now back at his special needs school, which caters for able and disabled children and he seems to be enjoying it much better each time. They have specialists to help James and he very much enjoys swimming twice a week. There have been lots of coughs and colds going around, Yvonne and myself have not been well, yet James has not caught anything yet! James has now been completely out of his nappies for some weeks and apart from the occasional accident is managing very well.
James is besotted with his new baby sister Georgia, he seems to be very happy at the moment and his improvement continues. He weighed in today at 27lbs 8ozs, thats about 3 lbs he has gained in just 3 months. James was stung by a wasp whilst at the Alton Towers Theme Park, which upset him greatly, then he fell off his battery operated motor bike the following day. This led to him being very drowsy for a day or so, but he seems fine again now.
James weighs in today at 28lbs 2ozs and generally seems well. The clock change seems to have made no difference to James, he just wakes up an hour earlier now! This has led to him flagging towards the end of the day, although he noticeably comes alive again when one of his bigger friends comes around to play. James is given some foot/leg braces up to just below his knee to try and make him use his thigh muscles more when standing, currently he bends his knees back to stand, or when he his walking with support.
James weighs in today at 28lbs 7ozs.
James weighs in today at 28lbs 2ozs, not been a very good last 2 weeks eating. He has been struggling a little with a cold. Generally he seems OK.
James has recently undergone his 12 monthly heart check, which involved a ECG and ultra-sound series of tests. These checks are required because some previous TPI cases have been affected by cardiac problems. All seemed normal with James's heart. James has been eating quite well and weighed 28lbs 10ozs when weighed today.
James weighs in today at 29lbs 12ozs, a gain of 1lb 2ozs in just 2 weeks!!.
James weighs in today at 30lbs 12ozs and his height is 94cms, his eating is much better of late.
James continues to improve with his eating habits and is generally a very happy little soul, he dotes on his baby sister Georgia. He seems to be finding it more and more difficult to crawl, the strength in his arms appears to be reducing, this could be his weight gain making things harder though. He attends his nursery school 3 days a week and is quite happy to be left there without a relative in close attendance. This is amazing considering he would never leave his mothers side less than a year ago, he is becoming quite independant.
James weighs 31lbs 3ozs and is continuing to eat well. He seems to be in very good health at the moment, in fact James has not been really unwell for a considerable time!!!! He is becoming more and more determined to try and do things for himself, unfortunately his shaky hands prevent him from holding objects very well.
James weighs 33lbs 3ozs, a gain of 2lbs in 4 weeks and his height is 96cms!! On the down side, his hands are beginning to really hurt and frustrate him, especially his right hand and his big toes are beginning to curl more, his right toe being more pronounced. Dr. Mark Layton at Kings is hoping to arrange a meeting soon for James with their Neurologist, Dr Elaine Hughes to assess the situation. He can still manage to crawl around the house, albeit very slowly and he seems to be adapting to whatever his physical situation is at the time. He continues to be very happy mosty of the time and very alert. His favourite occupation at the moment is watching his 'Barney' videos, although with his nystagmus (shaky eyes) we can not be sure how much and clearly James can actually see. James is becoming more and more aware of his situation and seems to be very intelligent, he has started asking very specific questions if he overhears us talking about him.
James gains 7ozs, he now weighs 33lbs 10ozs. James recently underwent a session with his consultant neurologist Dr M. A. Clarke. Some comments from the report include:-
- Suspect an element of dystonia in James's hands
- Swallowing disorder with a significant degree of neurogenic dysphasia
- Marked hand tremor
- James is of normal intelligence
- Very ataxic
- Dysarthic, probably not weak
- Reflexes present in upper limbs
- Diminished knee reflex
- Ankle reflex certainly present
- Present planters are extensor
- James has pendular and rotory nystagmus
Dr Clarke added that he was pleased to see how James was, particularly how he is intellectually.
James has to have a general anasthetic to have 2 teeth fillings. Within a few days James is not very well and we have to eventually take him to hospital. Doctors can find no problems with James's chest, yet during the night he wakes during heavy coughing fit. It seems he can't clear his lungs of the phlegm, at one stage he literally couldn't breathe. Gradually over the next 2 weeks the coughing decreases and James recovers. Although no trace of infection could be found a small dose of penicillen was given to James.
James weighs in at 35lbs and is back to his normal self. The weight gain coupled with his continual degradation of his hand control make crawling more difficult, he is not crawling anything like as much as he was, although he is still able to. He is still managing to ride his battery operated car and motor bike, and peddle his special bike!
We take James to Birmingham to be fitted with a 'second skin'lycra glove for his left hand. We hope this will help him use his hands and fingers better, first signs are not very encouraging, but we will perservere. James has recently acquired his first wheelchair.
James underwent 4 days of tests at Kings College Hospital at the beginning of August (see news updates for further details) he came through the tests very well even though he required a general anasthetic. James starts infant school in 2 days time, we are very apprehensive for him but at the same time very excited.
James has now spent 4 weeks at Etchells Infant School in Heald Green, Stockport and he has loved every minute of it.
James recently had further eye tests at the Royal Eye Hospital in Manchester. The preliminary results are very bad and have more than confirmed our worst suspicions about James's ability to see. We know he can see to a degree but are never sure, these tests indicate there is damage to James's optical nerves and that his ability to see is very limited. We constantly test James just to see what he can see and I am sure as he grows older he will soon be more able to convey how much he sees. In the meantime James will be registered as partially sighted. Looking back we think this damage was done during his traumatic birth. James had nystagmus from a very early age.
James Stewardson begins a series of red cell blood transfusions on Monday 5th 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!
7th Nov 97
James underwent his second transfusion at the Royal Manchester Childrens Hopsital. Because James's blood count had stayed relatively high, it was 12.3, he could only be given 200mls. The medical team had terrible problems finding a vein, James's veins in his hands and feet are very small due to the limited use.
16th Dec 97
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's HB was 11.3 prior to and 12.8 after the transfsuion.
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.
10th Jan 98
James underwent his 4th Red Cell transfusion on January 9th. This was an exchange transfusion involving about 500mls being extracted and about 360mls of purified red cell blood going in. James's HB count was 11.5 prior to the transfusion.
James continues to show signs of general improvement, especially in his hand and arm movements. James underwent a series of neuro-physiology tests at Kings on January 7th and saw neurologist Elaine Hughes. These tests will hopefully allow some comparison with the same tests James undertook in August 1997. Elaine Hughes remarked on the improved flexibility in James's hands.
23rd Feb 98
James underwent his 5th Red Cell transfusion on February 11th. This was an exchange transfusion involving about 1200mls being extracted and about 860mls of purified red cell blood going in. James's HB count was 9.6 prior to the transfusion and 12.3 immediately after. 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. It is more than likely James will undergo a bone marrow transplant from sister Georgia within the next few months.
James continues to show signs of general improvement, especially in his hand and arm movements. James has started to roll over across the rooom, something that didn't seem possible prior to the transfusion treatment. James's current weight is approximately 47lbs and his height is 104cms.
15th March 98
James continues to show signs of improvement whilst on his transfusion treatment. James had further eye tests at the Manchester Royal Eye Infirmary, which again confirmed damage to James's optic nerves. It was evident that James could see better from his left eye, but his general vision is very limited. James tends to half close his eyes to help him focus. We think the eye damage probably occurred at birth as we noticed when James was only 2 months old he was not following any movements beyond a certain distance.
James has his next transfusion on March 19th.
5th April 1998
James had his 6th transfusion on March 19th, approximately 830mls of red blood. The transfusion was performed in about 2 hours, the fastest yet, and James had a slight reaction soon after when he vomited. The significance of this is not known, although I suspect the speed at which over 1200mls of James's blood was exchanged was a factor. James had no long term reactions.
At the request of Prof. Susan Hollan we have taken James off his 5mls of daily cod liver oil, this is because a sample of James's blood will be sent to Prof Hollan later this month and she requires this sample to be free of the effects of cod liver oil.
James continues to do well and his strength seems to be growing.
7th May 1998
James started having breathing difficulties on Sunday 26th April, brought on during sleep with catargh collecting on his chest. At one stage his lungs seemd so clogged up he could hardly take in a breath. Eventually with some physio and plenty of coughing we managed to calm him down. Since then this has been happening most nights, be we now have a nebulisor and other breathing aids to help. We hope this will pass!
James continues to do well otherwise and has recently started to attend the odd afternoon at school as well as morning. We hope to soon have him attending school full time.
Taking James off the cod liver oil has not had any remarkable affect, although I think his hands and fingers are beginning to get stiffer. This could be because he has not had a red cell transfusion since March 19th, his next one is due on May 18th.
24th May 1998
James started with a bad wheezing cough 4 weeks ago, during the night we heard James struggling to breath and really wheezing. After a lot of back slapping and coughing James recovered. Although not quite has bad as this first episode, James has continued to have coughing fits up to 6 times a day, usually during the night and first thing in the morning. the coughing fits usually end with James wretching and being sick. We are sure this has been caused by cataarh collecting on his chest, which he has been unable to clear.
We have had James checked out by many Doctors over the last few weeks, he has also had an x-ray, but his chest seems clear. He was given a dose of anti-biotics when the problem first started and since then has been regularly given Salbutamol and Filair 100 inhalers.
James received his 7th red cell blood transfusion, this time at Kings College Hospital, on Weds 20th May. See latest News Pagefor the traumatic details. James was weighed whilst at Kings and is 3st 7lbs.
It is now 4 days since his transfusion and James seems to have recovered from the problems associated with it. The cough is less severe and James seems to be much livelier than before the transfusion. One change has been his voice, it has at times been much higher pitched than normal, this could be down to the chest problem?
14th June 1998
On June 2nd we became very concerned with James's cough general appearance, he was very pale and we could tell his HB levels were very low, and on the GP's advice James was admitted to the local Stepping Hill Hospital. James was thoroughly checked over and his chest again seemed relatively clear. The Registrar knew very little about TPI Deficiency and therefore found it difficult to say what was wrong with James, he suspected it could be either virul or a reaction to his recent red cell transfusion. However, after consultation with his Paedeatric Consultant he decided to give James a short course of Azitramycin. Over the next few days James did start to improve slightly and by June 10th was back to his normal self.
James restarted his daily cod liver oil intake, this time 10mls as opposed to 5mls, on or around June 1st. James stopped the cod liver oil at the beginning of April at the request of Prof. Susan Hollan as she wanted samples of James's blood to be free of the effects of the oil treatment. Prof. Hollan was sent samples of James's blood on May 19th.
25th July 1998
James has generally been very well over the last few weeks and continues to have a daily 10mls of Cod Liver Oil.
Being at school full time seems to be making James very tired in the evening, he tries so hard at school and is determined to do as much as the other kids as possible. James has a full-time helper with him at school, to tend to his physical needs and other aids such as a CC TV which magnify's words etc,etc to help him read and a specially adapted computer.
James had a bad nights sleep last night, awake for long periods, and as I write this he is sleeping in. When he first woke about midnight, he was very hot all over, yet he was shaking uncontrollably throughout his body. Eventually he stopped shaking and then complained of a headache and stomach ache and wanted to be sick. After a few hours and some Calpol he went off to sleep. We have had many episodes of James's temparature fluctuating, but this is a first for the uncontrollable shaking.
22nd August 1998
James doing well and wanting to walk, supported by Mum or Dad, more and more. His general hand function continues to improve slightly, as we speak he is painting to the best of his ability.
He recently had his HB count taken at 10.5
22nd September 1998
James developed a high temperature on September 5th and became very lethargic and generally not very well. Within about 24hrs he began to recover and a few days later had no ill effects.
Shortly after we started James on a new exercise regime based on advice from the "The Care and Advice Trust for Children with Handicaps (Catch)" They sent two of their volounteers to show us the routine, which we will follow daily.
From the outset James seemed to get a little better at some of the exercises.
Today James has just completed his exercise routine with a little difficulty, we have noticed James has been getting floppier over the last week or so, this is usually a sign of his HB levels dropping. His recent HB count was measured at 9.6. We hope James can bounce back as he usually does.
James also had his long awaited measles booster today.
13th October 1998
James continues to improve and is in a good general condition at the moment. His HB blood count measured 10.2 when last measured about 2 weeks ago.
We are perservering with the daily exercise routine for James and he does seem to be improving, quite dramtically with some exercises, notably the crawl.
James is now attending Etchells in Heald Green, Stockport, mainstream school full time and without the need for mum to attend at lunchtimes. James has a full time helper by his side all day at school to help with his physical needs. James can now read many words, if suitably sized due to his sight limitations, and has started to do sums.
12th November 1998
In the last week James 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.
9th January 1999
James enjoyed a wonderful christmas and has been generally quite well since his hospitalisation in November. His last 2 HB readings have been 10.5 and 9.5, the latter on Weds 30th December.
We have noticed his speech is getting worse and we are finding it more difficult to understand him. We have started to encourage him to concentrate on his deep breathing and shown how this does improve his speech. We will continue to monitor and try to get the speech therapists more involved. As you will see from the January 9th 1999 News Update James is about to start a treatment of batyl alcohol suggested by Professor Susan Hollan.
6th February 1999
James's red blood count was at a healthy 10.4 when checked during his monthly portocath line check on February 1st. James also seems to be getting his voice stronger again and is generally very well.
James had 2 of his back teeth removed under general anaethsetic on Friday February 5th at the Royal Manchester Childrens Hospital. James came through the procedure very well.
2nd March 1999
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.
11th April 1999
James back from 2 weeks in Orlando and seems to be generally very well. In fact, his Physiotherapist thinks he is getting stronger when doing his excersise routine with her!
We took James off Cod Liver Oil on March 16th in preperation for blood samples being sent to Prof. Susan Hollan in Budapest.
James's last HB count taken on March 16th was 9.5
James had the meningococcal vaccine on April 6th and is scheduled to have the varicella (chicken pox) vaccine in about 4 weeks time.
5th May 1999
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.
20th June 1999
James has been slowly deteriorating over the last few months and having difficulty with his breathing during sleep, he is noticably restless whilst sleeping and sweats very heavily around the head and trunk area of his body that he lies on.
He has become more floppy and finds it very difficult to hold his head up straight for sustained periods. His hands and wrists are becoming noticably more clenched and twitchy and this is bothering him very much.
These problems led us to believe his HB levels were dropping as this is the usual course James follows when not too well. However, when his HB level was tested on about the 8th June we were surprised it was at 11, James usually varies between 9 and about 10.5 when he is well.
We thought it best that James should again start a series of blood transfusions to see if this would give him a boost as it has done in the past and Dr. Andrew Will at Royal Manchester Children's hospital agreed to do this if things didn't improve within about 4 weeks. Dr. Will would like to be sure the Shark Liver Oil treatment James is having is given a bit more time to see if it helps. A week later James had showed no improvement and Dr. Will agreed to start the transfusions on Tuesday 22nd June.
We had a O2 probe monitor at home to check his levels whilst sleeping and overnight Friday 11th June we monitored James, although it was not ideal because of James's movement whilst monitoring, his O2 sats went down to about 50% and his pulse up to about 130 when in a deep sleep.
His O2 levels during the day were between about 88 and 93. We then arranged for a overnight sleep study at Stepping Hill Hospital for Friday 18th June. Over the next few days things got slightly worse and on Thursday 17th June we decided to take James to Stepping Hill Hospital to see the consultant paedeatrician Dr. Lacey. He couldn't see any obvious problems e.g chest was clear etc, etc and suggested we bring the sleep study forward to that night.
About 2 hours into James's sleep his sats had dropped to 45% and his pulse was about 135, he was then given oxygen assistance via a mask located near his face, not pressed to his face. This improved things and James had much more comfortable sleep with his sats varying between 65 and 75.
It was agreed James needed oxygen assistance overnight to get him over whatever his problem was and it meant James going into hospital for overnight oxygen assistance until we could have the means from home. Over the next 2 nights James had the oxygen mask attached to his face and his sats were kept at about 97 with a pulse of about 100. This helped James sleep much better but he was still not too good during the day, he seems very tired and his sats are only in the 70's.
James's urine showed high protein levels when tested this moring and this is being investigated further.
23rd June 1999
James underwent a exchange red cell transfusion today he had 600mls of red blood mixed in with about 350mls of albumen. His HB was 10.2 yesterday and 12.9 after the transfusion, just over a week ago it was 11. The high HB is apparently a side affect of low oxygen levels in his blood, James's HB is normally under 10. The better sleep of recent nights is perking him up a bit and the transfusion today has improved things even more. We will monitor him closely over the next few days.
The urine test mentioned in the previous update was negative.
James's O2 levels during the day are much better and are at about 94 to 95%
4th July 1999
James didn't require oxygen assistance overnight following his red cell transfusion on June 23rd, the nurse reported that his sats did not fall below 70. James did require the oxygen the following night 24th June.
On Friday the 25th June we received the rather antiquated looking DeVilbiss oxygen machine for James's overnight oxygen assistance. That night we tried using the mask giving James 4 litres of oxygen, this wasn't enough and we upped to the 6 and then 8. James's sats stayed in the 90's for a while but then started to drop, eventually after many waking episodes we got James to sleep. The following night was a similar struggle to keep his sats up and get James to keep the mask on. The struggles we had were reflected in James the following day and he was very tired, this culminated in a coughing fit and James really struggling to get his breath. At this stage we took James back into hospital for some oxygen assistance and he quickly perked up. James was checked out and given a chest X ray and all seemed OK. However, we decided to keep James in hospital overnight to enable a better sleep.
The following night we tried James at home again but this time with a nasal tube rather than mask for his oxygen, this worked really well and James's sats stayed in the 90's at 1 to 1 1/2 litres.
During the next few days James slowly started to improve in his appearance, awareness, strength, demeanour, alertness and even his stiff hands / wrists became quite loose again.
We had another coughing fit in the bath which seemed to be brought on by some sort of panic and lasted for about 5 minutes. He was quite OK afterwards.
Today Sunday 4th July James is noticeably better in all aspects from where he was 2 weeks ago, his eating habits have improved and he is getting a good 9 to 10 hrs sleep each night. Each night we start him without the oxygen to allow him to get to sleep as he still won't voluntarily have the mask or nasal tube on him. His sats are fairly consistently anything between 85 and 94 just before bedtime. During the first hour or so of sleep his sats will drop slowly to the 70's and then he seems to go into a deep sleep and then they will go down quite dramatically to the 40's and 50's at which stage he will rouse slightly and they will go back up again to the 70's or 80's. This is when we start the oxygen assistance and keep his sats in the mid 90's.
He is still sweating profusely in the early stages of sleep some nights, not all, and we are not sure why? The sweating is mainly on the areas of his body that he lies on, side and back of head and upper body.
James will have another exchange transfusion on the 13th July and about every 3 weeks thereafter for the next few months. If James can show noticeable improvements and become less reliant overnight on the oxygen assistance, the medical team will again consider James for a bone marrow transplant.
13th July 1999
James underwent his 2nd red cell transfusion within 3 weeks today. All went well and James was given a 600mls exchange followed by a 300mls drip over the course of 2 hours. The blood was a approximate 2 to 1 mix of blood and albumen.
Prior to the exchange his Hb count was 11.8 and following was 13.4.
During the past few days we could see the effects of the transfusion 3 weeks ago were beginning to wear off and he was becoming slightly less strong and alert. This was still a massive improvement though from where he was prior to the transfusion of 3 weeks ago!
Following today's transfusion James was quite irritable, sweaty and pale. This might be partly due to him getting very upset at one stage. However, by the early evening he had perked up and looked a great colour. Before going to bed he seemed much improved in all aspects from the previous day.
James's sats when put to bed were between 85 and 89, as usual we will start the oxygen assistance via the nasal tube when his sats drop below about 70 and he is in a deep sleep.
25th July 1999
James still doing very well and in all aspects. As I write this just after midday James is still asleep after a late night last night, something he would never do in the past.
His teachers, helpers and therapists have all commented in recent weeks on how well James has improved.
7th August 1999
James had his 3rd of recent exchange transfusions yesterday, 6th August. Approximately 1200mls of red blood and albumen, with a 2 to 1 ratio of the mix being blood.
Unfortunately too much red blood was given to James and his HB count went up to about 18.2. Dr. Will though thought this would be OK and James came home. He seemed OK.
James's oxygen levels (sats) have been dropping during the day in recent weeks. We test James each morning after the oxygen assistance has been removed, sometimes during the day and again before he goes to bed. On some occasions his sats can be above 90 and on others below 80, the average tends to be about 85.
This variation could be down to his position when measured and how active he is. We have founf that if he sits more upright or mves and talks a little his sats shoot up. One assumes the movement is stimulating his muscles and helping the breathing?
James is generally still very well and walking a lot with assistance, his special bike is still being used, although he finds it harder to stay upright is his special seat and will slump onto the chest support when tired.
12th August 1999
For the first few days after James's transfusion on the 7th August his sats were worryingly low, mid 70's to mid 80's during the day. They have never been this low before. James was also a much deeper red colour during these few days and didn't seem very well at all. However, he has picked up again and his sats are now in the mid 80's to 90 and he seems much stronger and brighter. His voice is much improved also.
The exchange transfusion he had last weeks was his third during the last 9 or 10 weeks. We are beginning to wonder what the actual benefit is to James? I suppose if we go back those 9 or 10 weeks, he was in a very bad way then, so they are undoubtably helping him.
His next transfusion is in about 4 weeks. I doubt if James will be considered for a BMT until his condition improves even further?
21st August 1999
James spent 2 days in a Claire House Hospice with mum, dad and Georgia for 2 days last week. Claire House is located on the Wirral, near Liverpool. We wanted to see how James would react to spending time there, the intention being Claire House possibly helping in the future for the odd day or two.
Claire House is a brand new Hospice opened in April this year. The facilities there are second to none and the staff were wonderful with James. James thoroughly enjoyed his stay and apart from insisting mum slept with him, he allowed the staff to look after him most of the time.
During the last few days James has probably been as bright and strong as at any time during the last 4 months!! His oxygen levels (sats) have been in the low 90's for the last few days and he is definitely much stronger in all aspects.
30th August 1999
James continues to be well and strong and seems to be getting stronger!! His sats are still improving also. Just this evening I took James for a walk, with his splints on and me supporting him under the arms he manages to walk with difficulty, we have small field just at the back of our garden which is about 100 metres long and James insisted on "running" the length and back. I think he got the idea from watching the World Athletics on telly!!.
However, over the last week or so we have been having increasing difficulty getting him off to sleep, he seems to be scared of something but he won't tell us what!! We are sure there is nothing physically wrong with James though and will continue to monitor him closely and try to work out what is going on!!
Our sanctuary used to be when he went to sleep about 9:30, not anymore!
1st September 1999
James had his 4th exchange transfusion on Sept 1st, as usual about 800 mls was exchanged. James's HB count prior to the transfusion was 12.1.
Immediately after the transfusion James developed a sever all over body rash caused by an allergic reaction. This was quickly treated first with piroton and then hydrocortisone.
30th September 1999
James has been steadily deteriorating over the last 2 weeks, with his sleep problems not improving and his eating becoming worse by the day. His oxygen levels (sats) had been steadily improving since his last transfusion on the 1st of September, nearly always in the low 90's when measured first thing in the morning and last thing at night. However, during the last 2 weeks they had been dropping below 90 on occasions.
Today James had his 5th exchange transfusion and as usual about 800 mls was exchanged. This time he was given hydrocortisone before the transfusion to avert an allergic reaction. James's HB count prior to the transfusion was 9.7, it was 11.3 when taken 9 days ago.
Already we can see the benefit from the transfusion, his talking is louder and his sats are higher.
20th October 1999
James's improvements after his last transfusion only seemed to last a few days. Since then he has continued to deteriorate with regards his eating, sleeping and general strength. This has been seen in his oxygen (sats) levels dropping.
On the 5th October James saw Dr. Rob Yates a Paedeatric Intensive Care Consultant at Booth Hall with regards his deteriorating breathing. He recommended a sleep study to determine James's CO2 levels during sleep, although the oxygen he has during sleep solves one problem, it is possible he is not able to exhale properly and therefore retain too much CO2. This would explain the sweats and irritability James goes through when trying to go to sleep.
A few days later James spent a night a Booth Hall Childrens Hospital undergoing a sleep study. This confirmed that James's CO2 levels went much higher when in a deep sleep and the oxygen was turned off. Dr. Yates recommended James use a Bi-Pap ventilator when he goes to bed, this machine will ensure James inhales and exhales normally.
Dr. Yates has written to our local health authority in Stockport to raise the necessary funding and hopefully James will have the bi-pap machine in a few weeks.
On Sunday 17th October James was struggling with his breathing and had a slight temperature, we took him to the local hospital for a checking over. Blood tests showed his white blood count was high, possibly indicating some sort of virus or infection. His HB count was quite good at about 11.6.
James improved over the next few days and when the blood results came back nothing untoward had been found. He continues to be much weaker than normal and seems tired all the time, hardly surprising considering the lack of sleep and his eating habits!!
4th November 1999
James's condition has continued to deteriorate over the last few weeks, despite having an exchange transfusion on October 28th. See Latest news page for details.
20th November 1999
Our wonderful son James passed away at home in our arms at 8:20pm on Friday 12th November at 8:20pm. 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.