Ashley Smith: Born June 26th 1992
Update from Ashley's mum Alice in June 1998
"Dear Family and Friends, June 9th 1998
Hi,hope you all are doing well. We've just finished Ashley's kindergartin year. This year Ashley was on the Homebound program. Week before last, we went to the school she would have attended for the presentation of awards and certificates. Ashley received a special award for 'super worker' and met the children in her class. They had corresponded with her through the year. Writing letters and sending pictures.
Ashley played the triangle in the family band at St Mary Magdeline school at the end of their school year. The recital was in the church with alumni and family members of all ages. She played with her best friend Molly helping her. I know her talent is in music .She enjoys it with such enthusiasm!
Ashley has stayed well this past season and we have seen good progress in her strengths. She has mastered the alphabet, counting by tens, phonics, beginning addition (likes to add in her head),subtration and is starting to read.
Her latest science project is the caterpillar in stages (metamorphosis-Ashley says). Her caterpillar is in the chysalis stage . We await the'opening' and the butterfly immerging any day now. We had to bring the caterpillar-in-jar (Harry Woozle-Ashley had named) to Shreveport for Mothers Day. Ashley didn't want to leave 'Harry' with Molly. He made his cocoon just as we returned.
We have had Ashley on cod liver oil for a few months and will start her on a derivative of the oil DHA (Docosahexaenoic acid) in a week. The doctors at the Biomedical Research Unit have researched this therapeutic approach to peroisomal-disorder patients. This is similar to patients with TPI. Such as generalized spasticity,mainly in lower limbs,hypotonia and lateral and rotatory nystagmus(rapid eye movement).These patients have low levels of DHA in the brain and other tissues. By giving DHA in the form of fish oil etc. it is easily incorporated into phospholipids membranes with an increase in red- cell DHA levels.Since she has started taking the oil we have noticed with Ashley she has lost most of the rigidity in her arms and fingers.This has allowed her more freedom of movement and increased confidence to use her arms, hands and fingers. Her hands and fingers are more relaxed (they had become almost stuck in a claw-like position).She is starting to push her wheelchair forward and backwards now. She uses her right hand mostly but still she gets to most places she wants to without us pushing her everywhere. Ashley can use her arms now to hold on to me when I pick her up and transfer from her from one place to another with her actually doing most of the work transferring.. Like reaching up to hold-on and learning to hold-up her legs. She can give a good HUG again. I get lots of them to make up for the years she hasn't been able to. Ashley can scratch her nose and rub her eyes now. Some other things she has accomplished since starting the oil are rolling over from her back to side (I never thought I would see her do this again) She can pick her head up off the mat by herself and hold it up for a short period of time even push up onto her elbows. In physical therapy we have been exercising Ashley walking and on a moveable pony-walker. She is now picking her legs up in a marching-fashion instead of the forward scissor motion she had before. She is slowly learning to walk with the pony-walker as another means of independence. This is hard for her since the muscle tone is so weak now. She insist on weights to exercise to hurry the muscles-up. Ashley neck and head control is so much better. This time last year she could not hold her head up off her chest. It listed to each side when she would tire. She holds it up and turns with great ease now.
We have weaned Ashley off the O2 during the day ,no more naps with supplimentary O2. She still uses BIPap (Inflo &Exflo of air) and a litter of O2 at night . This gives her a good night sleep without wearing herself out to breath,since she still has sleep apnia . This has been an accompishment on Ashley's part that has taken me by surprise. Since last September to go through what she has and see her as strong as she is truely amazing. I'm in awe how God works. I know this is such a struggle for her (just to speak a few words or move) but you'd never know it by her determination and will to go on.Ashley has opened doors we thought were closed. She challenges every obstacle with her own creativity and smiling way. We leave this Monday for two weeks to vacation in Shreveport, a trip to Florida with the Senffs in July and back to Shreveport for another visit in August before the new school year. This is our time to get Ashley away from the Childrens hospital where she spends most of her time. Clinics are put on-hold for the summer.
God-willing Ashley will continue to as she has these months past. Thanks to all of you for the prayers . We have seen results. They help give us the strength we need in our daily lives.
Warmest wishes, Ashley, Alice and Brian"
How Ashley's family found the Stewardson's
Ashley Smith lives in Louisiana. We only found out about Ashley in January 1996, her mother Alice wrote to us after finding our names were the only ones present on the National Organisation for Rare Diseases (NORD) register for TPI deficiency. We immediately telephoned Alice to let her know her family was not alone. Ashley was again a typical TPI child, with similar symptoms to Marissa Buchanan the other American TPI child, she was relatively unaffected until 18 months of age, but then things started to happen.
Ashley was in and out of hospital and was even at one point mis-diagnosed with Spinal Muscular Atrophy. Ashley was eventually diagnosed with TPI deficiency after blood samples were sent to California and analysed by Dr Beutler. Dr Beutler is an eminent scientist in the field of TPI deficiency and has on many occasions met the the leading European TPI specialists, Professor Bellingham and his team to discuss TPI deficiency.
We sent a package of information to the Smith's with regards the charity and research project, plus lots of information about TPI deficiency, we hope they will be able to stimulate some support in the USA.
Ashley's Story told by Mum Alice in March 1996
"Brian & I had been married seven years before I became pregnant with Ashley . We were on top of clouds with news of her arrival. The pregnancy was uncomplicated, but her arrival two months early was unexpected and she was born with a very the high billirubin level and was jaundiced. After a blood transfusion she recovered quickly and all seemed to be normal, her hemoglobin level was normal, although there was some hypotonia present. We went to a Early Development Centre to have the Doctors work with Ashley, but we discontinued after three months because she was progressing so well.
She continued to do as any normal child with motor skills & intellect until she was 18 months old when she caught the flu. By chance she had her blood taken for a H& H & her hemoglobin was extremely low. It continued to drop & Ashley was admitted to the hospital. She was jaundiced with a high fever and had become listless. They immediately decided Ashley needed a transfusion, in fact they had to transfuse her twice to raise her blood levels. After this she regressed to a point where she could not stand ,walk, crawl, or sit anymore. This took about ten months.
For the next year we had her monitored for her hemoglobin levels & had various Neurological tests done. They all came back negative. She continued to have these tests every four months, until July 1995.
While in the hospital in February 1995 they questioned whether she might have Triose Phosphate Isomerase (TPI) Deficiency, that was the first time we had heard of TPI as a possible diagnosis. Ashley's blood was again tested, this time in La Jolla Calif. by Dr. Beutler, the result came back as TPI deficiency. Once we knew Ashley had TPI Deficiency our search began for anyone, any information, anything that might shed some light on this very devastating diagnosis. Most of all we didn't know what might lie ahead for Ashley.
Ashley is now three & a half years of age and she is a very bright child, but TPI deficiency has left her with severe hypotonia to the muscles, respiratory weakness and she is unable to do most things for herself. We know when a crisis is about to occur, ( her temperature is high, she becomes listless , her Hemoglobin drops and her Reticulites go up, white blood count drops and she becomes jaundiced). Her pediatrician has told me Ashley takes about three days to become critical and she then needs to be put on IV 'S fluids & requires two blood transfusion’s to get her levels up. When Ashley has one of these episodes it is like a domino effect , the high fever, cold or viral symptoms, Listlessness , haemolytic breakdown, then the worst , the enzyme or muscular breakdown . When this happens she becomes totally rigid, in her extremities especially & has no control of her legs , hands etc.. This has always been so frustrating for her, one minute she can feed herself the next she has no control over what her brain is telling her to do . This has been the hardest of all for her. Still her determination is what keeps us all going , she never gives less than 120 % and always with a smile. Sometimes she fights back, but this again is her determination and spirit.
We know there are Great Doctor’s doing what they can, hopefully it will be only be a matter of time before there is a treatment or cure for Ashley."
If you would like to contact the Smith family, please E-Mail them at:
Send E-Mail to Brian and Alice Smith (parents of Ashley)
If you would like to help, or find out more about TPI deficiency, please E-Mail Dave Stewardson at:
Send E-Mail to Dave Stewardson (Father of James)
