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This is What It Means to Have a Rare Disease

Alethea Mshar
Special needs mom and Blogger
02/28/20  8:00 AM PST

Searching For a Diagnosis

In the months before his diagnosis, I spent every single one of my son’s naps and hours after he went to bed Google searching, doing anything I could to figure out the source of his problem. I brought Ben to his pediatrician numerous times and called countless more times. I zoomed past hysterical mother and sped my way right to crazytown. His pediatrician kept telling me that constipation and slow growth was “normal” in a child with Down syndrome, and reminded me to give him Miralax so much that I’d bet the stock on the company went up substantially in those days.

When we finally got past the gatekeeper to the GI doctor he was diagnosed with Failure to Thrive because he was under the first percentile for weight for his age, and things kicked into high gear. Ben was assigned a surgeon and more tests than I could fathom, before finally getting the diagnosis of Hirschsprung’s Disease. I’ve spelled out “Hirschsprung’s” more times than I could ever count in the years since.

It took my son 15 months to his diagnosis for his first rare disease, others he’s had since then have taken even longer. His Primary Immunodeficiency wasn’t diagnosed until he was 11. rare disease

What it Means to Have a Rare Disease

We were shrugged off by doctors who treated me as if I’m out of my mind, had serious health consequences, multiple specialists, and dozens of tests to get his rare disease diagnoses. We endured fear, doubt from professionals, sleepless nights and he has long term health consequences from not being diagnosed promptly.

Rare diseases are tough. Doctors get a few pages in their books in med school about each of them and are told “when you hear hoofbeats, think of horses, not zebras”. That means that instead of thinking of that cool disease you heard about in med school, think of all the common things it could be instead. So then, when faced with the rare disease, which happens only a handful of times in a career, they’re geared to think about what it probably is instead of what it might be. Too often rare diseases are missed.

There are no awareness days for many of the rare diseases out there, they’d hardly register with a hashtag for many of them. Instead, we fall under the umbrella of “Rare Disease Day” which falls on February 29 this year (the rarest day of the year). Together, we share our experiences of going undiagnosed and fighting to get treatment. Though each rare disease by itself might not register, together we make a difference.

 

inclusion on the playground

Alethea Mshar is a Special Needs Mom and Blogger.

Read her blog, Ben’s Writing, Running Mom

Follow her on Facebook

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