Rare Disease Day 2018

Today is one of my favorite days of the year: Rare Disease Day. Held annually on the last day of February, it is a day to celebrate those living with rare diseases, and also to raise awareness for the many different types of rare diseases that exist in the world. And there are many.

I consider it to be one of my favorite days, not because I enjoy having a rare disease (let’s be serious!) but because it brings out all the wonderful feelings that make life so meaningful – love, community, passion – just to name a few. What you won’t find, however, is pity – just the opposite, in fact. Rare disease patients don’t want you to feel sorry for them, just to understand what it’s like to walk a mile in their shoes.

Continue reading “Rare Disease Day 2018”

5 Years

Five years ago today, my coworker and good friend Carly Hughes passed away from cancer at age 24. The day is forever etched into my memory. Part of me still wants to believe that she got better, came back to work, and resumed her life. It still seems inconceivable, even after all this time, that she is actually gone.

Continue reading “5 Years”

Happy Father’s Day!

Happy Father’s Day to all the wonderful dads out there! Here is an article I wrote for MDA about my dad, similar to the letter I wrote to my mom for Mother’s Day:


To be a parent of a child with a rare disease is no easy task. It takes a special kind of parent, and a special kind of love.

Happy Mother’s Day!

Hello everyone,

I just wanted to write a quick note and say Happy Mother’s Day to all you wonderful moms out there!

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Book Progress: 115 Pages

I am finished with the first draft of my memoir!

It checks out at 115 pages, single-spaced, give or take a few placeholders and incoherent ramblings.Screen Shot 2017-03-14 at 11.29.07 PM.png

This is a big deal for me. I’ve attempted to write my story many times, always failing. This time, though, is different. I am motivated, and it just feels like the right time. My transition into a wheelchair is nearly complete. It is a natural bookend to my journey.

The key to writing a book, I’ve found through trial and error, is to take a seemingly insurmountable project and break it down into manageable pieces. My immediate goal was to write out, chronologically, all the important events that have taken place in my life between 2008 and the present day. I have accomplished that. The next step is to go through what I’ve written again, and start to turn it into a story. Then in subsequent steps, I’ll add more detail, quotations, and finally, give it one final run-through.

This next step, I believe, will be the most difficult. Continue reading “Book Progress: 115 Pages”

Interview on WebMD

Today I am featured on the WebMD website for Rare Disease Day! It is very exciting. I was interviewed a few weeks back (many thanks to NORD for connecting me) for a series they are running about patients living with a rare disease.

The interview gave a brief overview of my condition, my patient journey, and advice I’d give to others who are newly diagnosed with an adult-onset disease. I always enjoy being able to use my story to raise awareness and offer advice to new audiences.

You can find a link to the interview here.

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At least I am the face people will see as they type in their symptoms mid-panic.

Rare Disease Day

Today, February 28th, is Rare Disease Day around the world. Celebrated annually on the last day of February, it is a day to celebrate the millions of individuals living with rare disorders who persevere and thrive against tremendous odds. The truth is, many of these diseases (there are over 6,000) are so rare, no one has ever heard of them, including doctors and those who work in the life sciences industry. Consequently, rare diseases get virtually no research funding when compared to the more common diseases that affect millions of people. Even with government incentives the funding gap is astronomical. Worse, some rare diseases have so few patients worldwide that it is nearly impossible to organize a foundation, raise money, and offer support and resources. This only magnifies an already frustrating situation.


That’s what makes Rare Disease Day so important. It is a day where all rare disease patients, collectively, come together as one community. It provides a platform to impart on lawmakers, scientists, and the general public how important it is to support rare disease research, and to raise awareness for some of these conditions. Around the world, ceremonies take place in civic spaces and government buildings, allowing for a diverse set of stakeholders to see firsthand the human impact of living with a rare disease.

I was honored to be part of the festivities last Rare Disease Day at the Massachusetts State House in Boston. I was invited by MassBio to be a patient speaker in the celebration, and gave a short speech in front of over 400 people. It was both thrilling and therapeutic. I met many wonderful patients with other rare diseases, along with advocates and scientists committed to finding treatments and cures. Several people had never heard of my condition (Miyoshi Myopathy), so it was also a great opportunity to educate.

This year I will be working, so I will not be able to make it to my local ceremony in Hartford. However, my thoughts will be with those who will share their patient stories and captivate audiences around the world.

On this day, our collective disorders are not so isolating. It is hard to put into words how much that means.