The write-up below is a paper that I completed for my PEDS class. We were required to write a paper about a person or family who deals with a chronic illness. Having lived with MSUD in our family for almost 24 years, this was one of the easiest papers to write. Thought I’d share with you all!
Maple Syrup Urine Disease – what is it? Maple Syrup Urine Disease or MSUD as it is known is a genetic disorder in which the body cannot break down protein. The inability to breakdown these amino acids result in a toxic build-up in the body. This toxic build-up results in swelling on the brain that leads to brain damage, seizures or death if it is not treated. MSUD receives its unique name from the distinctive aroma of the urine and earwax of these affected individuals. With this toxic build-up, both the urine and the earwax smells like maple syrup. The MSUD individuals will also become lethargic, avoid food or will have difficulty feeding when the amino acid level becomes toxic (MedLine).
MSUD affects the everyday life of the individual in many ways. The individual with MSUD needs to adhere to a strict protein-free diet and daily intake of a specially formulated protein-free formula. Close monitoring is required of these individuals. Any small amount of protein ingested can result in swelling on the brain. These children live with a constant risk of brain damage. Routine blood work must be done to ensure that the amino acids levels do not rise to a toxic level. If blood work reveals a slow increase in amino acid levels, strict dietary and formula intake protocol must be followed to ensure that the amino acid levels rapidly return to normal, placing a huge responsibility on his parents.
For this particular family of ten, having only one child with MSUD was a blessing after meeting another family who had six children with MSUD. But still it came with many responsibilities. After suffering an extended hospital stay at age 3, it became evident as the young man entered school, that he had suffered some brain damage as a young child in the hospital. He required one-to-one tutoring at school, but he still came home with large amounts of school work. This required either parents or a sibling to sit down with him and complete his homework each night. This amount of homework frustrated the young man, because when asked the questions, he could answer correctly. But when required to write down the answer, he just couldn’t do it.
But for this family, especially the siblings who took an interest in healthcare, talking about the effects of the disease and researching it provided them with insights of how the human body worked. For the parents, they were blessed to have a normal child, as many children born prior to 1990, suffered severe mental disabilities. Having been diagnosed early on, within 7 days of birth, allowed for immediate treatment to be put in place.
As he grew older, he soon was able to spend time with young people of his age. But his condition limited him and what he could do. Needing to pack food and formula for each event took time and planning. The lack of electric or refrigeration on some trips made it impossible from him to participate. His sisters often helped him with the planning and preparation of meals when they found themselves at joint youth functions. But this also wore on them, for they enjoyed spending time with friends. They love their brother dearly but taking care of him took away from their ability to socialize with friends.
The older he became, the more frustrating and overwhelming his condition became. He just wanted to be like his friends, eat the foods his friends ate. But he was just different. His condition prevented him from traveling and just being with his friends, especially if the trips were long-distance. He was able to have a full-time job working in finishing and assembly at a local furniture woodworker. But each time he would start getting sick or experience rising amino acid levels, he would miss several days of work until he could get back on his feet.
But as we speak, this young man has since received a life-saving liver transplant. No, the liver transplant did not cure the MSUD, for if you were to complete genetic testing on him, he would still test positive for MSUD. But what the liver transplant has done is eliminated the need to follow a strict protein-free diet or drink the specialized formula. A liver transplant requires him to take daily medications, but the liver transplant has also taken away the continued risk of brain damage. No longer bound by the strict diet, his daily routine has changed. He can now eat what his friends eat. He got to taste steaks, shrimp, fish, sushi, cheesecake and many other things for the first time. And he has not found any food he doesn’t like. Limitations have been lifted; he can now do what his friends do. And he is deeply indebted to the person who lost his life so that Jordan can have this change in his life!
Until the next time,
3 thoughts on “Life with Maple Syrup Urine Disease”
That’s pretty neat, Andrea. Thank you for sharing. 🙂 I’ve been trying to figure out what you meant when you said after the surgery that Jordan was enjoying some food for the first time, but this makes it clear. I’m so happy for you and your family that he was able to get a transplant!
(By the way–in that last sentence, did you mean “he can have this change in his life”?)
Esther, thank you for catching that. I totally missed that when I reviewed it 🙂
That’s okay! 🙂