Columns

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…

I favor running analogies — even the name of this column pays tribute to the sport. But I’m not the first patient advocate to evoke that ancient sport of quicker-than-average terrestrial locomotion. After all, we are racing to treatments because time is critical. But in the fight against a rare…

The therapy development process is a marathon, not a sprint. But unlike a marathon, the road any treatment must travel from the laboratory to the marketplace is filled with roadblocks. It’s often nonlinear, with starts and stops, backtracking and reworking. Because science, like life, can be unpredictable. The road to…

This month marks 13 years since my sister’s diagnosis of CLN1 disease, or Batten disease. That means I’ve had 4,745 days — or 113,880 hours, or 6,832,800 minutes — to get used to the thought of outliving her, even though she came into the world on a warm August…