Today is Rare Disease Day.
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.
Both Evalyn and Weston have Alagille Syndrome – a rare genetic disorder that can affect a variety of organ systems, including the liver, heart, skeleton, eyes and kidney. In our case, it is the reason that my children have Congenital Heart Defects.
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 often felt 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.