Rare Disease Day is on February 28. To find out more or participate in Rare Disease Day, please visit rarenewengland.org or rarediseaseday.org.
February 28 is a special day in our family. Our son Isaac was born with a rare disease called Glutaric Acidemia Type 1 (GA-1).
When he was diagnosed via newborn screening he was the only child in Vermont who had the disorder. We took Isaac home with very detailed instructions: keep him from getting sick, follow a strict diet, and give him a special medicine every day. Illness and GA-1 do not go well together, it can cause irreversible brain damage especially in young children. It is very important that illnesses are caught early and that he is hospitalized to prevent him from having a metabolic stroke. Isaac’s precious little life was in our hands.
Rare Disease: The Early Days
The early days after Isaac’s diagnosis were some of the hardest of our family’s lives. We were so scared that we would miss a sign of illness. We didn’t know what his future held. We didn’t know if he would ever walk or talk. The doctors gave us all the information they could but we still felt helpless. We felt alone.
Connecting With the Rare Disease Community
I reached out to Isaac’s nutritionist to help us find some way to get in touch with other families going through what we were. Through her we were connected with the Organic Acidemia Association. This was our first time talking to another parent who had gone through what we were going through. The doctors had given us statistics about what we could expect, but statistics are numbers on a page. I wanted so to see and talk to some families and see that they were ok and that they had made it through this very tough time.
My conversation with the founder or the Organic Acidemia Association led me to join Facebook and a group that had GA-1 families from all over the world. I cannot put into words how amazing this group has been for our life. We found out what to pack for hospital stays to make them a little easier, how to approach insurance issues, and so many other things. The greatest part of this group, though, is seeing other families and their beautiful children. We go through our biggest challenges and greatest accomplishments together. We cheer on first steps and give an ear during hospital stays.
Today, Isaac is three years old. He goes to Pre-K and is one of the happiest kids you would ever meet. We have adjusted to the changes. We can weigh out food super quick and my husband and I like to joke that we can pretty much weigh out 50 grams of any food with just our hands now.
On February 28 we celebrate Rare Disease Day. This is our day! There are more than 7,000 rare diseases. The diseases are so different from one another, yet many of the struggles we go through are the same. If you would like to find out more or participate in Rare Disease Day please visit rarenewengland.org or rarediseaseday.org.