February 28th is Rare Disease Day. As parent to a child with two rare diseases, this day is particularly important to me.
We adopted our son Benjamin after we discovered our biological son Alex, had Down syndrome. We thought our family would be completed beautifully by adopting a second child with Down syndrome. When we brought Ben home, at 3.5 months old, we figured we were in for a similar experience to having Alex. We couldn’t have been more wrong.
Ben had constipation. I suspected that being on a high calorie formula was the biggest reason, but as his constipation worsened week by week, I realized that this was no normal constipation.
By the time Ben was 6 months old, I was hounding our pediatrician for help. She kept tweaking his laxative dose, and telling me how common constipation is in children with Down syndrome, and that the only reason Alex didn’t have constipation was because I had breastfed him. My maternal instincts were raging, something was wrong, but our pediatrician insisted that this was well within the bounds of normal.
At his one year checkup, Ben was diagnosed with congenital thyroid failure. I breathed a sigh of relief, knowing that hypothyroidism can cause constipation, and hoped that treating this finding would correct the constipation. That was not the case.
I asked his doctor about Hirschsprung’s Disease, knowing that the rare disease is more common in individuals with Down syndrome. Our pediatrician ordered a lower GI x-ray series with contrast, to see if his large intestine was malformed. She reported the result as normal, and continued to recommend laxatives.
By this point I was terrified. Ben was severely constipated, and could not eat or keep his bottles down. He vomited frequently and heavily when he did eat, failed to gain weight, and looked sickly and malnourished. I called the pediatrician’s office every single day, thinking that if I kept bugging her long and hard enough, she would see that our problem needed more attention. She had remarkable patience, and just kept sending messages through her nurses. I finally asked for them to just give me a referral to the GI doctor, which they did.
The GI doctors were scheduling months out, but I was able to get an appointment with a nurse practitioner the following week. When we arrived, Ben weighed in at just under 15 pounds at 15 months old. The nurse practitioner was alarmed, seeing acute Failure to Thrive. She consulted with the GI Chief of Staff, ordered a series of tests, and referred Ben to a pediatric surgeon for suspected Hirschsprung’s Disease.
After the series of tests, including a rectal biopsy, Ben’s diagnosis of Hirschsprung’s Disease was confirmed. His pediatrician apologized to us for missing the disease for so long, citing the conventional medical wisdom of hearing hoofbeats and thinking horses instead of zebras.
Upon recovering from his surgery for Hirschsprung’s Disease, Ben’s second zebra reared it’s head. Ben began having vomiting episodes in which he would vomit every 5-10 minutes, and between episodes of vomiting, lie on the floor with a glazed look on his face, not responding to anything. The only way we were able to stop the vomiting was to bring him to the hospital for medication and IV fluids. After having episodes every 3-4 weeks for about 6 months, Ben was diagnosed and treated for Cyclical Vomiting Syndrome.
Ben is 11 years old now, and the Cyclical Vomiting Syndrome, which was effectively treated when he was a toddler has returned, causing him to have additional hospitalizations and a trip from Michigan to Nationwide Children’s’ Hospital motility clinic for additional tests and consultation with specialists. Hirschsprung’s Disease has impacted every single day of his life, resulting in additional surgeries and hospitalizations for management.
I am eager to speak up about this because the missed diagnosis of Hirschsprung’s Disease cost Ben so much in his early life. Thankfully, there are robust support communities online for these rare ailments, so while we are rare, we are certainly not alone.