I am a parent of three children. Our two sons are medically complex with an unnamed syndrome. Through our parenting journey, we have faced epilepsy, autism, ADHD, global developmental delays, factor XI deficiency, hypoglycemia due to a suspected congenital disorder of glycosylation (CDG), severe reflux, dysphagia, rare surgical complications, as well as subtotal villous atrophy, splenomegaly, and enlarged abdominal lymph nodes of unknown etiology. Our sons have a duplication of 1p36 partially encompassing CAMTA1, and we are waiting for further genetic testing to narrow down possible syndromes. All possibilities are incredibly rare.
People don’t understand how hard it is when your child has a rare disease, let alone one that doesn’t even have a name yet. It’s scary, overwhelming and incredibly isolating. The rare community has provided endless love and support to our family.
Isolation is so hard. When people don’t understand the disease, they apologize and try to move the conversation along. They don’t know how to react, especially when it is something they’ve never heard of before. Instead of isolating us, ask us about the rare disease we are facing, hear us out and love those with rare diseases as you would anyone else.
Undiagnosed Day takes place on April 29. All diseases were once undiagnosed. Join NORD as we honor the undiagnosed rare disease community throughout the month of April.