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When Even the Doctors Haven't Heard of Your Child's Rare Disease

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Imagine taking your child to a new doctor for the first time. You sit in the exam room and give a detailed medical history for their chart. You mention the rare genetic syndrome that your child was diagnosed with in infancy. A concerned look washes over the doctor’s face. “Can you spell that, please?” they ask.

The minutes that follow are filled with questions from the doctor to you about this condition. At this point in time, in this room, you are the expert on your child’s condition and not the medical professional sitting across from you. This can be a scary and unsettling feeling, and to families affected by rare diseases it can be commonplace.

My husband and both my children have Alagille syndrome. This is a rare genetic disorder that can affect a variety of organ systems, including the liver, heart, skeleton, eyes and kidney. It affects somewhere between one in 30,000 to one in 45,000 people. This disorder is also autosomal dominant, which means since my husband carries this gene we knew there was a 50 percent chance that each of our children would also have Alagille syndrome.

The symptoms and severity of Alagille syndrome varies greatly between people. While my husband and son have only been monitored for symptoms they experience, my daughter was born with a very serious congenital heart defect due to Alagille syndrome that needed immediate intervention. While some people may have only one organ system affected, others may have several.

Because Alagille syndrome is so rare, we often get questions from doctors. The thorough and interested doctors often inform us that they will “read up” on it after our appointment. At this point my husband and I can have a little laugh when we realize we have stumped yet another medical professional, but it hasn’t always been that way. In the beginning I would feel frustrated and worried that I knew more about the condition affecting my children than the people caring for them. Things have improved over the years, and as knowledge about Alagille syndrome and awareness grows, things will continue to get easier. This is my hope for all families affected by rare diseases and conditions.

Today is Rare Disease Day. According to the National Organization for Rare Disorders, the main objective of this day is “to raise awareness with the general public and decision-makers about rare diseases and their impact on patients’ lives.” After reading this article, please take a minute to think about families in your life affected by rare diseases and the struggles they face every day.

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Thinkstock photo by Leonard McLane

Originally published: February 28, 2017
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