Maple Syrup Urine Disease- It’s Not Sweet

Eight day old Anna was diagnosed with Maple Syrup Urine Disease (MSUD) also known as branched-chain ketoaciduria, a rare metabolic condition caused by her body’s inability to break down certain amino acids. From then on, Anna’s life changed drastically.

Anna has been made to follow a restrictive protein-free diet of no meats, dairy products, chocolate or soy. Every day, she has to consume a special high-calorie formula, which consists of mainly carbohydrates, to compensate for her missed nutrients.

“It is a hard life,” said Anna, a chocolate lover like any other girl.

The disease has also caused Anna to have a lower immunity than the normal people, causing her to be susceptible to diseases such as Urinary Tract Infection (UTI). When subjected to stress (e.g. infections, physical stress), it will trigger her 2,4-Dinitrophenylhydrazaine(DNPH) levels to elevate to high levels, causing her to miss classes.  

Additionally, due to brain damage caused by MSUD, she suffers from cognitive impairments. For Anna, this has led to speech, occupational and physical therapy over the years as well as placement in a special education classroom.  

Having her life dictated by numerous blood tests and the constant fear of having elevated amino acid levels that could lead to metabolic crisis has led Anna to struggle emotionally. Tears, anger and meltdowns have become more frequent.

“She’s starting to show the beginning signs of self-harm. Something seemingly insignificant will cause her to just fall apart. She is seeing a psychologist now, but so far I haven’t seen any changes. I just wish I knew what to do or say. I hate that she’s hurting inside, and it’s a hurt I don’t know how to fix.” said Paula Ruter, Anna’s mother.

Having to battle with her illness has not stopped Anna from living her life to the fullest. She competes in track and soccer through Special Olympics, also participates in the yearbook committee in her middle school and volunteers at an equine therapy ranch.

“I’m just an average normal kid, I am in a different class, I don’t care, I’m still a kid, I have a heart, bones and brains, I’m okay.” says Anna.

References: 

Central Michigan Life, 2010. Local Girl copes with rare maple syrup urine disease. [online]. Available at:< http://www.cm-life.com/2010/04/14/sweet-smell-of-courage-local-girl-copes-with-rare-maple-syrup-urine-disease/>

The Global Genes Project, 2012. Maple Syrup Urine Disease-It’s Not Sweet. [online]. Available at:< http://globalgenes.org/patient-stories-of-hope-and-inspiration-meet-anna/>

Ruter, Paula,. 2012. Our Transplant Journey. [online]. Available at:< http://www.ourtransplantjourney.net/>