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Zachary was born on Sept. 6, 1995 to Ron and Denise Pinskey. He was a beautiful boy who nursed great before we left the labor delivery room. He had a sister, 19 month old Alexandria. We could not have been happier - two beautiful children who appeared normal.

Unfortunately, a lot has changed since that day. Zachary stopped nursing on the fifth day of life. By his seventh day, a breast feeding specialist said Zachary kept his tongue on the roof of his mouth and sucked on his lip; that was why he could not nurse. She gave me some instructions and we were on our way.

That same day I received a telephone call from the doctor who delivered Zachary. She explained that he tested positive for maple syrup urine disease, which can cause brain damage and death if not treated quickly. Needless to say, everything was a mess. I couldn't reach my husband because he was at a training class for work and I didn't know the number. I had to drive Zachary to the local hospital for a blood test. Then at the doctor's office, I had to wait for an hour. Our doctor was unsure if his diaper smelled sweet. She had never seen anyone with this disease, so she wanted me to go to the University of Michigan. It was almost two hours away and I had never been there. Fortunately, our luck changed, and my sister was able to drive us to the hospital.

When we got to the hospital, Dr. Richard Allen smelled Zachary's diaper and felt very positive that he had MSUD. He explained that the disease is treatable. During this time Zachary had his eyes closed the entire day and didn't open them up for a day or two. Unfortunately, Zachary's levels took their time coming down, and he had lost his suck reflex. He was hospitalized for two weeks and went home on a feeding tube. The feeding tube was a horrible contraption. Zachary's condition did improve. But within a month, he got a cold, which turned into pneumonia caused by aspirating due to the cold and the feeding tube. Fortunately, his levels did not rise with this illness. After a few days in the hospital he began sucking from a bottle full time. YEAH! It has been a year since he was hospitalized with the rota virus, which was as hard on him and us as when he was diagnosed at the hospital.

Zachary has steadily improved. He sat up at 9 months and crawled at 10 months (combat crawl). He walked around furniture for 4 or 5 months before he finally let go. He walks on his own more and more, but he really likes to walk on his knees. Zachary likes to feel very safe, so that's why he walks on his knees and eats very basic things. He is very social, loves people and smiles a lot. He is currently receiving physical, occupational, educational, and speech therapy through our county which has helped a lot. He is developmentally behind 4 to 6 months, which we hope he will overcome with good health.

Zachary has tested every belief we ever had, but he has also rewarded us with all his smiles, hugs and kisses. Right now he is very active and can't wait for summer to come, because he loves it outside and loves to swim. We once again feel that we are very lucky in life.

CHANGE THE LIVES OF MSUD ADULTS AND CHILDREN

The MSUD Family Support Group is currently funding several research projects and we are proactively looking for researchers interested in developing new treatments or finding a cure for MSUD. Significant funding is necessary if we are to accomplish this goal.
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