From butterfly to battle cry: How Rare Disease Day has evolved

Happy Rare Disease Day! I’m curled up under my blankets, willing my body to recuperate after traveling for a family emergency, and reflecting on how much heavier this day feels to me this year.

Since its creation in 2008, Rare Disease Day, on the last day of February, has been a way for people in the rare disease community to share their experiences with family, friends, and policymakers. There’s hope in the idea that a few small voices can become a powerful roar if we all come together. By doing so, we can accomplish real change as a community.

My relationship with Rare Disease Day has evolved over the years. Originally, it was a catalyst to share my own diagnosis, something I’d been quiet about when I was growing up. I’d been told by too many people that no one wanted to be around someone who is sick. But seeing other people’s stories and struggles helped me to not only come to terms with my own diagnosis but also to embrace my disability. I finally learned that disability isn’t a bad word.

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On Rare Disease Day in the early 2010s, I used to share my diagnosis on my social media accounts. I’d make one post on the various platforms with a butterfly, the symbol of hypoparathyroidism, and then go on with my day. After all, for me, every day is rare disease day!

In 2020, a few months after the pharmaceutical company Takeda issued a U.S. recall for Natpara (recombinant human parathyroid hormone), my posts became like a prayer asking people to spread awareness about hypoparathyroidism so that clinical trials could garner attention and a solution for the recall could be found. Due to the COVID-19 pandemic, that prayer became like a flare I sent up asking people to be considerate of high-risk populations.

In 2024, the day finally became like a celebration for me. I’d joined a clinical trial for the now approved medication Yorvipath (palopegteriparatide), and I felt better than I ever had since my diagnosis. Yorvipath is currently the only treatment for hypoparathyroidism approved by the U.S. Food and Drug Administration (FDA).

So, this year, Rare Disease Day has become a battle cry for me.

We must not become collateral damage

With today’s political climate in the U.S., the future of the National Institutes of Health (NIH) is uncertain. A hold on submissions to the Federal Register means that researchers can’t schedule required study sections and advisory councils can’t secure funding. This is important, for example, because researchers at NIH were the first to explore parathyroid hormone replacement treatment for hypoparathyroidism in the 1990s.

There’s a boulder in my stomach as I wait for news about hypoparathyroidism studies connected to the NIH. SHINE, a natural history study of hypoparathyroidism spanning several years, examines how the disease progresses and which management strategies might be effective.

Encaleret, an investigational oral tablet, is currently being tested for its effectiveness in a pair of clinical trials for autosomal dominant hypocalcemia type 1 (a genetic disorder that causes low blood calcium) and postsurgical hypoparathyroidism.

Xuewei Wang’s research into a long coveted at-home calcium blood tester is partially funded by NIH grants. Unlike other endocrine disorders, there is currently no way to do a serum calcium blood test — which measures both protein-bound and free calcium in the body — at home. A patient must either go to a lab, get blood drawn, and wait up to 24 hours for results, or go to the hospital emergency department. Imagine having diabetes and not being able to check blood sugar levels with a handheld tester or wearable monitor. If my calcium level drops too low, I’m at risk of complications like heart failure and seizure.

Other hypopara complications include chronic kidney disease, kidney stones, anxiety, depression, muscle spasms, cardiac arrhythmia, calcium deposits in organs and soft tissue, and cognitive dysfunction. For 12 years after my diagnosis, there was no FDA-approved treatment for it, leaving my body at higher risk for complications and giving me a significantly lower quality of life. I never want to go back.

I’m not alone in my concern. In a column titled “Are hemophilia treatment centers in danger?” fellow Bionews columnist Jennifer Lynne recently discussed how changes in federal funding could affect her own treatment for hemophilia.

This year, I hope more people will amplify the voices of rare disease warriors and the risks we’re facing due to federal policy changes. Rare Disease Day is no longer just about my own personal story of fighting for a diagnosis and treatment. It’s a movement to scream and shout and let people know that we’re here and we need our healthy peers to pay attention and support us, before we become collateral damage to unclear policies and budget cuts.

Note: Hypoparathyroidism News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Hypoparathyroidism News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to hypoparathyroidism.