Caroline's Story: Parent's Letter ProjectInborn error of metabolism - Caroline and Stephen's parents
You are probably feeling incredibly overwhelmed and scared with such a rare diagnosis for your child. I experienced that feeling twice when two of my children received such a diagnosis. At age 3-and-a-half, in the summer of 2001, our son Stephen, was diagnosed with the metabolic disorder isovaleric acidemia. His disorder was not screened for at birth and the late diagnosis resulted in severe neurological damage. After a long hospitalization and rehabilitation, Stephen became a regular patient at Children's National, because of its metabolic geneticists who are experienced in caring for children with these rare disorders. It was a lot to absorb at first, but we immediately felt comfortable and confident with the hospital and staff. Stephen has had a few hospitalizations since then, which is not uncommon for these kids, but the metabolic geneticists and dieticians have always been on top of things, and together we have kept him metabolically stable. We are convinced that if Stephen had been diagnosed early and brought to Children's for treatment when he was born, he would be living a typical childhood with his disorder.
Our daughter Caroline is a testimony to the amazing expertise at Children's National and what early intervention can do for a child with a rare metabolic disorder. Before she was born, she was diagnosed with the same disorder that Stephen has, and treated right at birth in September of 2002. She has only been to the emergency department three times for IV fluids and is really doing well thanks to the metabolic team at Children's.
You are probably still trying to remember how to say your child's disorder. Don't worry. It took me three days when Stephen was first diagnosed! You will be asked to bring your child in for frequent visits to the hospital for extensive lab work and examinations. This too is normal for a child with a metabolic disorder, because the right nutrition and monitoring is important in keeping your child healthy and stable. The team will continuously calculate your child's dietary needs and provide a nutrition plan specific to your child that you will have to follow every day. You will immediately feel like part of a team thanks to the family-centered care focus that this hospital prides itself on. Don't feel bad if you are a little confused or overwhelmed. It's normal and it takes time to get used to it all and the staff is sensitive to this need. What's great is that there is always a geneticist on call happy to answer any of your questions and provide you with guidance. Don't ever hesitate to call regardless of the time. He or she will work with you, and together you will determine if your child needs to be seen. The IV fluids are normal and sometimes necessary for these kids. They help to keep them stable and get them through whatever illness they may have.
You are going through a lot right now, but I assure you that it will get easier in time and your child is definitely in good hands at Children's National. I will always wish that Stephen had the opportunity to have been diagnosed early like Caroline and begin immediate care at Children's. I am convinced that it would have made a profound difference in his life like it has for Caroline. I wish you all the best.
Stephen and Caroline’s parents, Jana and Tom