Valutivity LLC is celebrating our 4th #RareDiseaseDay2021 virtually "at" the NIH on Monday, 3/1/2021. Last year, I attended #RDDNIH in person at the National Institutes of Health (NIH), met with my doctor at Building 10, and performed piano/vocal concerts at the NIH's Safra Lodge (for adult patients) and their Children's Inn. These events were very memorable, given their proximity to all of the COVID-19 closings.
We had rolled out Tryptasemia.com / Tryptasemia.org in preparation for #RareDiseaseDay2020. In the 12 months since then, we've amassed over 12,600 hits!
Is HAT / HATS rare?
Rare, in the medical sense, has a precise definition--and by that definition, HAT is not rare. Somewhere between 2% to 5% of the Caucasian population carries the trait--so if everyone were diagnosed, quite a few people would have it. So, although about half of the people with HAT develop the symptoms associated with HATS, even that category is not rare.
So why do we celebrate #RareDiseaseDay?
For starters, we carry several comorbidities which are rare: Vibratory urticaria, Congenital laryngeal palsy, Mastocytic enterocolitis, Multiple basal cell carcinoma in 20s, Idiopathic hypersomnia, Hypermobility spectrum disorder, familial migraines, etc. Lipedema, like HATS, is not rare, though it is unfamiliar in the US and very rarely diagnosed.
Before we were diagnosed--and our new diagnoses continue at a rate of about one per quarter--our doctors considered our cases rare. They used words or phrases like "unique" and "never saw a case like this."
HATS is new, uncommon and unusual, although not technically "rare." At last count, fewer than 1,000 people have been identified in the world with HATS. Those with HATS virtually never run into anybody in the medical profession who have heard of the disorder. It was first mentioned in medical papers less than five years ago--and we are still awaiting having the disorder added to ICD-10 (which should happen in April 2021, for both HATS and Lipedema).
Lastly, there is a common set of challenges and strategies that patients with rare disorders often need to utilize to become diagnosed and to receive the most effective treatment. Attending events like #RDDNIH2021 connects us to people who know how to advocate for their own disorders and for others. When patients and their caregivers *partner* with researchers, doctors, manufacturers, and politicians, their advocacy pays off in stronger relationships, thoughtful/valuable outcomes, and the reward of more productive lives--if not for our generation, then certainly for the next.