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If she were still alive, my younger sister would have celebrated her 22nd birthday today. Instead, Taylor died from CLN1 disease (Batten disease) in September 2018, more than 12 years after her diagnosis. Long before I said goodbye to my sister, I knew all of the work our charity,…

Part two of a series. Read part one.  If you’re like much of the world, you’ve spent more time at home than usual in 2020. This is especially true among the rare disease community, where many patients and their families have to take extra measures to avoid contracting COVID-19.

First in a two-part series. With August around the bend, a summer reading list may seem a little last-minute. But if like much of the world, you’re still spending more time at home than usual, consider adding some of these titles to your shelf. From diagnostic odysseys to stories of…

Can you remember a stranger year than 2020? I was a college sophomore on 9/11, but while that tragedy mostly united Americans, the COVID-19 pandemic and growing racial tensions have proved divisive. And while neither of these crises directly relates to rare disease, I can’t help…

The message landed in my inbox just before lunch on Day 61 of the quarantine. I was working from home while making lunch for my 1-year-old son, juggling content strategy with clementines. Shuttling between my makeshift standing desk and Jack’s already messy highchair, I glanced down at my phone quickly,…

Gaining access to lifesaving or even life-altering treatments has never been easy for many rare disease patients — including those with Batten disease. But the landscape is changing. What felt like a slow crawl in my sister’s lifetime (Taylor was diagnosed with CLN1 disease in 2006) is now, if not…

We watched from the dock as sunlight danced on the lake’s surface — a balletic performance for a small but captive audience of one in the quiet cove. Though still a few hours shy of lunch, the day was already hot. We both wore bathing suits, but my sister, Taylor,…

The world will soon celebrate Rare Disease Day. The 2020 edition falls on Feb. 29 — a rare day, indeed. EURORDIS founded Rare Disease Day in 2008 to raise awareness for rare diseases. Patients, caregivers, and stakeholders celebrate recent strides toward…

I miss my sister. Many people in the rare disease community are surprised, even shocked, to learn that I have a full-time job — which, along with my 16-month-old son and writing books and running races, rounds out my life outside of Batten disease. I worked that job from home…

A marathon is difficult even for world-class marathoners. The best of the best have rough days, days when they turn in a subpar performance, or even days when they can’t finish a race or a long training run. They suffer injuries. And usually they need every bit of the aid…