Diagnosed at the age of 10 2 months, doctors discovered Nick to be a medical mystery. His skin and blood tests indicated that Nick is a classic case of MSUD but should not have survived that long without severe disabilities or death. However, clinically Nick responds as a variant form of MSUD, a type all his own.
He is doing very well. Physically he has some tightness in the tendons of his legs, otherwise he is like the rest of the kids. He goes to physical therapy twice a week. After this month it will change to monthly visits since he's doing so well. He is 14 years old, slender and 5' 3". I have Nick in a private Christian school, mainly because he's not very motivated. He is a very social child and loves people. His school work ranges in the low to average scale. He loves sports, especially basketball.
Nick is seen every year or so by the University of California Medical Center (UCSF) in San Francisco. They try to follow him closely. Since he is a medical mystery, his tests are done for research and costs have been covered by the hospital. On these visits complete testing is done: blood work, X-rays, MRI and neurological tests, dietary and orthopedic check-ups, and psychological tests. It has been very encouraging, although we have had a few scares. Two years ago osteopenia (thinning of the bones) showed in the hand X-rays. Luckily this year there was no sign of it. The MRI does show some strange things, but it has not changed since the first one over 6 years ago.
I used to weigh and measure all Nick's foods, but now I just try to use good judgement. Nick is very good about his diet. Not that he's always happy he is on a restricted diet, but he knows the consequences all too well.
The first five years of his life were full of hospitalizations, only two extremely serious ones. He was flown down to UCSF by helicopter once and by airplane once. He is an excellent patient and has only whacked a doctor once. We still laugh about it.
When he was five years old, he spent a day with relatives and ate much more than he was allowed. After several hours in the hospital with an IV, we went home.
In the last five years Nick had two hospitalizations-once for the flu-once with fever. It seems the older he gets the less hospitalizations he needs. We handle most illnesses at home. Apple juice is a "lifesaver." Before the apple juice we used Pediatlyte. I just added Kool-Aid to it. I still get very worried and scared. We can't do much but work together and pray.
He has taken the MSUD Diet Powder since diagnosis. He does not like to drink it and mixes it as a thick milk shake. He uses it on his cereals and likes to dip and crunch up his potato chips in it. Without it, I notice quite a drop in his energy level. Nick eats a lot of potatoes ( fixed every which way), vegetables, fruits and cereals.
Nick has some limitations. He tires easily. I have worked very hard at keeping communications open so that he lets me know at all times when he's not feeling right. I try to have consistent bed times and luckily Nick is a good eater.
It has been a learning experience raising a child with MSUD. It is only recently that I allow myself the luxury of thinking of a future for Nick. What profession will he be able to enter? Will he be able to marry and raise a family? So many questions. UCSF has just begun giving Nick genetic counseling. They will help teach him how to handle situations on his own and help him to better understand MSUD.
Nick's dream for the future is to be a basketball star. Isn't this the same dream as thousands of other little boys? I let Nick dream and one day we'll get down to reality. We have a computer in the bedroom and a hoop outside. He loves them both.
Family Histories - Nick's Story
- Category: Volume 11-2