Maple Syrup Urine Disease (MSUD) is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected infants' urine. MSUD is inherited, which means it is passed down through families. People with this condition cannot break down the amino acids leucine, isoleucine, and valine, leading to a toxic buildup of these chemicals in the blood.

In the most severe form, MSUD can damage the brain during times of physical stress (such as infection, fever, or absence of food). Some types of MSUD are mild or come and go. Even in the mildest form, repeated periods of physical stress can cause mental disability and a toxic build-up of leucine. If untreated, MSUD can lead to seizures, coma, and death.

Living with MSUD is difficult for patients and families. Diets must be very strictly controlled. Special metabolic foods are essential for survival, but are expensive and not always paid for by insurance. Individuals with MSUD remain at high risk for developing episodes of acute illness necessitating immediate medical intervention throughout the duration of their lives.

MSUD has no known cure and affects an estimated 1 in 185,000 infants worldwide, qualifying it as a rare disease. As with most rare diseases, research for MSUD lags far behind other diseases due to technological and funding limitations.

Thanks to early diagnosis and adherence to his special diet, Carter has grown into a happy and very active boy. However, we will never be "out of the woods". He cannot grow out of this disease. He will remain on this diet for life. He is always susceptible to brain damage should he go into a metabolic crisis. We are reminded of this every so often when Carter is hospitalized during an illness. We have seen high leucine levels make him act loopy and cause him to hallucinate. Unfortunately, we don't know the lasting impacts these episodes have had on his brain.

We are participating in the Million Dollar Bike Ride to raise money for MSUD research. Our group was asked to participate again after another strong fundraising effort in 2021. To date, we raised enough to fund four research projects. While we are so thrilled to have funded these projects, we know many more studies will be needed in order to find a cure for MSUD. The Penn Orphan Disease Center matches all funds raised, up to $30,000. There are so many exciting opportunities for MSUD research on the horizon, your donations will help us move closer to more effective treatments and a cure.

We believe Carter deserves a life where he can continue to thrive and chase his dreams without his disease slowing him down. Please help us realize this dream.

Thank you for your support,

Jordann & Andre Coleman