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. 
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.
Alethea Mshar is a Special Needs Mom and Blogger.
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This is so hitting home for me. When my son, Jackson, was about a-year-old he started sleeping a lot and buy a lot I mean he was sleeping probably 1718 hrs. a day I brought this to the attention of his pediatrician and she assured me that no nothings wrong he’s just going through some growth and and plus he just got over a cold yada yada I am through the course of the next year I can’t bring him in at least five times and I would get the same thing I know he’s fine don’t worry he just got over this he just got over that well it was February 2007 and it was to be his two-year-old well baby appointment. I walked into the office and unfortunately our appointment had been accidentally canceled. Well at this time Jacksen was sleeping an average of 23 hours a day and I was out of my mind I literally started yelling that somebody will see my son right now, I am getting emotional as I write this, Please somebody see my son. The entire waiting area was filled with people with tears in their eyes out from the back comes a doctor, Dr. Zweng, he had heard me loudly pleading with someone to see my child! He said he would. He was on a lunch break, but he brought us right back and he did a couple field tests, asked us to go to the main branch to have blood drawn, the lab was there and results would be quicker. I thanked him with a tearful face and headed out.
It was 10pm that evening, I received a call, it was Dr. Zweng, he called personally to let me know what I had already feared, that yes, there were abnormalities in his blood.
A week later, we were at Stanford Children’s Health/Lucile Packard Children’s Hospital and about 3 weeks after that, a diagnosis came in, that of Pompe disease.
I’ll never forget Dr. Zweng, he was, is and always will be a special person to me.
Darcey Ebert