Fortunately, much has changed in the past 25 years and the diagnosis of maple syrup urine disease is handled and not construed as the end of the world. When I was born in 1988, the diagnosis of MSUD (if diagnosis took place at all) signified the beginning of an impeccably scripted horror story that was about to begin. In general there was lack of knowledge by virtually every doctor you would come across and utter frustration (mentally, physically, and even financially) for both the parents and child. I was one of the lucky ones. I was diagnosed at 16 days old and was treated just in time leading to no permanent damage, but it was not easy on my parents. As I look back on it, it was a nightmare for them those first few days, weeks, and years as they tried to pay for my medications and keep me healthy.  As rough as it was they persevered and I survived.

By the time I reached the seventh grade, I was curious about “what was wrong with me.” I knew I was not allowed to eat any pizza or hamburgers, and I had been in and out of hospitals. However, I still knew little more than that. That spring, my biology teacher assigned open topic research papers. Mine…was MSUD. I began reading and learning and for the first time I had an idea about MSUD. I can honestly say I appreciated understanding a great amount of the details that seemed unclear at the time. I now may have even known more than my parents. However, the true benefits would come from the research itself. Until then I viewed science as just another class that was pretty easy, and I was pretty good in it. The class I had really enjoyed was math. However, following that project I developed a passion for science, in particular the biology and the chemistry. Fast forward 18 years, and I have graduated from the Georgia Institute of Technology with a degree in Biochemistry with honors, and am currently pursuing a PhD in the field of analytical chemistry at The University of Georgia.  Yes, being born with MSUD is difficult for all those involved. It is difficult road, but in my case it also shaped who I became. That day in seventh grade, if I had not found a project that inspired me…who knows? I may have been a mathematician today.  Life with MSUD has lead me to this. So, as tough as it may be, MSUD is a part of me in more ways than just a disease. So, as tough as it may be, just remember: Keep looking. Every cloud has a silver lining…I have found mine.

In The Professional Journals

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

Read More

Galen Carrington Classic MSUD age 27

Galen Carrington is a 27 year old Indiana resident who has classic MSUD. He underwent liver transplantation 5 years ago at Children’s Hospital

Read More

Cambrooke Foods Hosts Local Event

Cambrooke has been doing cooking demonstrations, social meet ups and educational events for patients, their families and the clinician’s that support them for many years.

Read More

20th Annual White Horse Beach Charity Golf Tournament

On July 29, 2017 Charlie O’Rouke and his committee held the 20th Annual White Horse Beach Charity Golf Tournament.

Read More

From The Editor

Hello to my MSUD family! The power of this family hit home this summer, when Hannah (Classic MSUD age 23 years) and I visited Israel.

Read More

Adjusting Protein In An Adult With MSUD

A little over a year ago, in January, Jeff was just not himself. He had limited energy, was not eating well, and often appeared slightly agitated.

Read More


A Child's Life

Subscribe to our mailing list

Signup To Our Newsletter Signup with your email address to receive news and updates