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Classic MSUD

After I was born, on July 24, 1990, in Malden, Massachusetts, I had to spend my first week in the hospital for swallowing muconium during birth. After antibiotics I was sent home and everyone thought that there were no other problems. I was a happy baby. Shortly afterwards I stopped drinking my bottle, in fact I would take my hand and literally hit it away. When my mom contacted the hospital in the middle of the night they just said she was feeding me wrong. In the morning she called my pediatrician, who was about to call her to come in. At the time of the visit he informed my parents that one of my newborn screening blood tests had come back positive for a rare metabolic condition, Maple Syrup Urine Disease. My parents then had to take me to Massachusetts General Hospital (MGH) right away where I underwent dialysis. During this time my parents quickly were informed about the dietary restrictions that I would have to live by and my mom had to then find a pharmacy that knew what MSUD was and that would order formula for me.

After this surgery I spent the next month in the hospital, before finally going home. Since that time I have been hospitalized three times. The first one was when I was two and a half, which was the first time I was sick. At that time I was in the hospital for approximately a month. I was then hospitalized for three weeks when I was five and a half, for a sore throat that prevented me from drinking. The next time that I would have to face an IV and everything else that comes with being hospitalized was when I was eight and a half, for a week, but it still took my body months to fully recover. I think I have been able to keep my hospitalizations to a minimum by taking a lot of precautions in school. The schools I have been in always sent letters home to the school families about me and how I needed to be careful about not getting sick. The parents would usually let the school know. The school would then tell my mom if my classmates were sick and the kids would usually let me know if they didn’t feel good. I would then sit on another side of the room or the school would make other arrangements for me.

As I grew up, I have learned to accept MSUD as just a way of life, even though it has not always been easy for me. For me, MSUD also led to some neurological impairments, including learning disabilities and a speech disorder. When I was three and a half I was diagnosed with a severe articulation disorder and started Speech Therapy. I remember as a toddler I used to use hand movements like charades in order to even communicate with my parents. Now after fifteen years of speech therapy I am now hopefully understood by all, as long as I slow down and articulate each word. I have even spoken on live TV through my local cable station, where I have volunteered for five years and am now interning.

When I was in third grade I had testing done and it was found that I had learning disabilities and started a phonetic reading program. Since then I have had extensive lessons going back and forth between the Orton-Gillingham and the Wilson Reading System. It was at this point that I actually started to learn to read and spell. Later on it was found that I had a form of dyslexia, an executive functioning disorder, which is when it is hard for someone to organize and keep track of things. In addition, I had fine and gross motor skills problems, which I was able to improve with the help of eight years of occupational therapy.

When I entered high school, I could not read the majority of the materials on my own. For those first few years my mom would read me my homework. In school I was not able to complete much work as teachers would just say, "try" and "try harder". Then I started to read by means of books on CD and a computer software program that reads to listeners whatever they scan into it. I have always been a hard worker and it has paid off. I have been able to earn high grades in school and was an advocate in bringing the National Honor Society to my high school, which I am now a member of.

Throughout high school I was in many clubs: Math Club, Science Club, Moot Court, Movie Production Club, Student Outreach Group, Class Rep. and more. I also created my class’s senior DVD yearbook on my own and helped out with the computers in my high school. On June 10, 2009 I graduated high school two days after completing the reading program that I had been learning from for ten years. In the fall I will be a commuter student, at Wentworth Institute of Technology in Boston, Massachusetts, where I will be majoring in Computer Networking and Information Systems (BCNS).

My Trip To Israel

I met Avi, Dikla, and Tamar Starr last year at the MSUD Symposium in Raleigh, NC. Tamar, classic MSUD, was 2 ½ at the time, and they invited me to come to Israel and stay with them for a year.

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From The Chairman’s Desk

On July the 21st the MSUD Board of Directors traveled to Bethesda, Maryland for our annual Board meeting. We stayed at the Hyatt Regency in Bethesda.

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In The Professional Journals

A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate

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Advocacy

As our legislators headed home for their August break, Rare Disease Legislative Advocates got busy.

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Metformin As A Possible Therapeutic Agent In The Treatment Of MSUD

The MSUD Family Support Group has provided funds to Buck Institute for its preliminary studies investigating metformin

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Indigo Charlie Mays - Variant MSUD Age 4

Meet our girl Indigo Charlie Mays. After a smooth pregnancy and delivery, she was born on July 21st, 2013 in Seattle, WA.

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A Child's Life

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