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Helping Doctors Understand a Rare Genetic Disease

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Amy and her son Mitchell, who was enrolled in a study to observe patients with urea cycle disorders.

Amy’s newborn son was very sleepy and difficult to feed when she brought him home from the hospital. At first, she wasn’t worried. She remembered that when her daughter had been a baby that drowsiness is not unusual in an infant. In Mitchell’s case, however, a standard newborn screening test revealed that he has a rare form of a group of diseases known as urea cycle disorders. Due to a missing enzyme, he is unable to process protein normally, causing a dangerous buildup of ammonia that can be toxic and ultimately fatal. When Amy asked her husband to take a photo of Mitchell asleep on her shoulder the night before he was diagnosed, she had no idea her son was dying in her arms.

Today, Mitchell is a happy and energetic little boy who is thriving. His parents are able to keep him healthy by controlling the amount of protein he takes in each day through a restricted diet and by giving him medication to help get rid of any excess protein. But for them, that’s not enough.

When he was 10 months old, Mitchell’s parents enrolled him in a study to observe patients with urea cycle disorders over several years. The study involves periodic blood work, which he needs in any case, and provides information about Mitchell’s health and medical history. While his parents hope that being in the study will help Mitchell, their main focus is that others will benefit from the information he provides. “Although the study may not assist in finding a cure for Mitchell during his lifetime, it will save other families from having to go through this in future generations,” said Amy.

Gathering information about diseases like the one Mitchell has helps doctors understand such disorders so that they can find ways of preventing damage and develop better treatments. “It’s so critical to helping children living with these disorders and future children. Collecting all this data could help make their lives better,” said Amy.

Like many families whose children suffer from a devastating disease, Mitchell’s parents have many questions about what’s in store for him. Their hope is that studies like the one he’s part of will provide answers.

We had no hesitation about putting him in this study. To know what Mitchell’s future might hold and how we might be able to stop some of the effects of this disorder is so valuable.

Amy, Mitchell's mother

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