advocacy · parenting · special needs parenting

Rare Disease Day Letter, February 28, 2017


In 2006 & 2007 I spent endless hours Googling, as only a terrified mom can. 

My son had an enormous, bloated belly and emacieated arms and legs. I knew to the core of my being that he was terribly sick.   But our pediatrician, whom we had seen for years and came highly recommended by my physician family member and whose praises I heard sung by local pediatric specialists, kept nonchalantly calling him “just constipated”.  

If there was a way to convey my message, I did it, I even weighed and photographed his bowel movement, which only came every 10 days or do. She just increased his dose of Miralax. 

As a child with Down syndrome Ben was at risk for several types of congenital gastrointestinal diseases, but the one test that his pediatrician ordered came back inconclusive. 

I don’t know why it took me so long to go around her, I certainly wouldn’t take that long today, but I finally asked to just see the GI doctor. By that time my 15 month old was wasting away at barely 15 pounds, he was listless and had long since stopped reaching milestones. 

The GI office was scheduling months out, but had a cancellation with a nurse practitioner, I snatched it up like a drowning woman would grasp at a lifeline. 

I was terrified that she, too, would fail to see the dire condition of my son, but she hustled on our behalf. She gave him a Failure to Thrive diagnosis and marked his chart as urgent. She ordered a slew of tests, and conferred with the practice chief to make sure she didn’t miss a thing. 

Within a few weeks Ben was diagnosed with Hirschsprung’s disease, and had lifesaving surgery performed.

Within the same year he got a second rare diagnosis, Cyclical Vomiting Syndrome

In the 9 years that have transpired since, he has had 2 more surgeries and 2 out of state referrals for care with super-specialized doctors who manage care for a small subset of children with similar diagnoses. We have made gains on his care, but his quality of life is impacted daily by these diseases, including an hour long bowel flush through a stoma in his belly button which is done daily because Ben is completely unable to control his bowels. 

I can’t help but wonder if his life would be better if his a Hirschsprung’s was diagnosed within 48 hours of birth, which is the standard of care, but his doctors saw a constipated child with Down syndrome, rather than a child with a Rare Disease. 

I ask only that you join me in awareness, and if you are so inclined, click this link and share it to generate a donation. http://rarediseaseday.us/thank-you-for-raising-your-hand/

There are many rare diseases, so many that up to 10% of the population has one. Since the people with the individual diseases are few and far between, we have banded together to advocate for ourselves and each other. We are stronger together!

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