Delft, The Netherlands
At 6 months Jim had his first seizure. Although it was an awful sight, we weren't very concerned because seizures with fever runs in our family. Jim was sick very often, he was falling behind on his developmental milestones and his motor skills were poorly developed, but his doctor wasn't concerned. Eating was getting to be a major problem because he refused to eat nearly everything. The seizures got worse and Jim was hospitalized very often. Blood tests (also metabolic tests) were taken but nothing seemed to be wrong. Jim started walking at 20 months but he still fell down very often, therefore he started physical therapy. Still it was very difficult to make contact with Jim, he nearly didn't show any affection, At that time we even thought Jim could be autistic.
When Jim turned 2 he was hospitalized because he had a seizure for 24 hours. An EEG was taken and also an MRI scan. Because the scan showed "something unusual", we were referred to a university hospital. There the neurologist put Jim on Depakote for his seizures. Because Jim didn't seem to improve, in fact he started having more seizures, the neurologist decided to put Jim on a special screening program for "children with mental development problems". This meant Jim had to go to an eye specialist, pediatrician, geneticist, and dermatologist. This took a few months and in June 1999 (Jim was 2 years and 4 months) we got a call from the neurologist. We had to come to the hospital the next day because they found something. That day we were told Jim was suffering from a metabolic disease called ASA. The dermatologist was the one who found it, because Jim's typical brittle hair (he actually recalled seeing it in a medical book with photos, so he started to look for it). The pediatrician told us that very little was known about this disease and therefore she couldn't tell us anything about the prognosis. We were told to put Jim on a low protein diet and give him arginine, 12 grams a day. This conversation took maybe 10 minutes and by the time we got home we realized we were just told Jim was suffering from a chronic disease. The following months the pediatrician wasn't very helpful, we had many problems giving Jim his arginine. She also didn't want to respond to our questions about the prognosis. He had to have Jim's blood taken once a month and that was all. Jim started to improve very slowly, but he still had seizures.
At that time we started to look on the internet for more information on ASA. AT the NUCDF site we contacted a metabolic doctor and he responded to our e-mail. He strongly advised us to contact our doctor about the Depakote Jim was taking, because it was very bad for the liver, and especially for children with ASA (because it can cause hyperammonia). We also contacted Jamie through the NUCDF site and this was such a relief as she understood the things we went through. She also gave us the golden tip for a formula for an arginine drink (with orange flavor). We contacted the pediatrician about the Depakote, but she didn't want to put Jim on another medication.
In October 1999 we finally found a great pediatrician in the children's hospital. He was familiar with ASA and was wonderful. He explained as much as possible about ASA and took all the time. In November 1999 Jim was hospitalized at the children's hospital because he was dehydrated and refused to take any food. At that time, they stopped the Depakote and Jim was put on Trileptal for his seizures. He had to have a nose tube because he still refused to eat. After 2 months, finally Jim's tube was taken out. Jim improved very rapidly, he started talking, his fine motor skills improved, he reacted better to his surroundings and finally he showed affection (this was wonderful).
At age seven, Jim is now attending a special school for children with learning problems. The classes are small (10 children) with 2 teachers. The classes have been classified differently than in a 'normal school' on developmental level, not on age. The children get much individual attention and moreover if it is necessary special therapy. Jim gets once a week physiotherapy and swim lessons. He likes school very much.
Although he has a developmental delay, Jim progresses good. He learns now to recognise letters, but reading is still too difficult for him. He can run if the bests, but we are still working on cycling on two wheels. He loves to swim but he can't swim without bands. He can use a scissor, but he needs help with his buttons. Jim loves to play outside with his friends, to bake pies and cookies or just play a computer game. Actually, he enjoys a lot of things!
Medically Jim is doing great. The seizures are under control (knock on wood) and he's growing and gaining weight. Jim is a joyful, bright boy who always has a smile on his face. Okay, he also can be stubborn and naughty (but even then he is adorable). We are very proud of him.
Home: Delft, The Netherlands Age at diagnosis: 2 years, 4 months
Other Diagnoses: Seizures, Carnitine Deficiency Protein Allowance: 16 grams per day
Weight: 34 pounds Liver status: Not enlarged
Medications: Arginine,Trileptal, Carnitene, Developmental status: Delayed, about age 5
Vitamins, calcium, Essential amino acid mix