Fast-Moving Research Boosts Hope and Health for Maddie

When I think of all the things our family is thankful for, improvement in our daughter Maddie’s health tops the list. We would not have had this success and joy without care from Kimberly Chapman, MD, PhD, a former medical geneticist, and other physicians, at Children’s National Rare Disease Institute.

Nothing is easy about having a child with a rare disease. But Maddie's care team always does their best to improve Maddie’s health and quality of life. Dr. Chapman also encouraged us to be patient because genetics and metabolism research knowledge is expanding and moving forward quickly.

Maddie's providers help keep our daughter’s hope alive. Maddie, who is fun, creative and energetic, had grown weaker and more dependent on medical supports over the years. But Dr. Chapman and team always encouraged her to enjoy doing what she loves. Figuring out the logistics for field trips and sleepovers took a lot of effort, for example on-the-go IV pumps for fluids and nutrition, emergency meds and other things, but her physician knows it’s important for Maddie to have as much normalcy as possible.

Maddie is part of a genetic research study that involves patients with metabolic disorders who don’t have a definite diagnosis. She also receives highly individualized care. When she was 15, we had a big breakthrough. Treatment enabled her to walk without severe fatigue. Her body began functioning better in many ways. She left her wheelchair behind and weaned off intravenous nutrition. Now, she takes less medication. In many ways, she has the strength and energy of a typical teenager. She’s excelling in school with a full honors course load, an active social life and many extracurricular activities. We’ve gotten a lot of happiness from the everyday things through the years, like being able to go to Grandma’s house, take family vacations and watch her perform in theater productions.

This very special team in Genetics and Metabolism at Children’s National Hospital made Maddie the incredible young woman she is. They have never stopped looking for answers. This means we have many family memories we otherwise might not have had. They have given Maddie the best life possible. We’re still waiting and hoping for more answers that only additional research can bring. We could not be more grateful.