Rare Disease Day 2020

Although Rare Disease Day (Feb. 29th) has come and gone, the afterglow remains. It is one of my favorite days of the year now, right up there with Christmas, Easter, my birthday, and any day when I have a fantasy baseball draft.

I always try to attend or take part in a Rare Disease Day event when possible. This year, I had the honor of participating on a panel with my fellow rare disease advocates at MassBio’s Rare Disease Day celebration on Friday, February 28th.

It was a whirlwind of a day, but tremendously gratifying. To be in a room full of rare disease advocates, family members, state representatives, industry and nonprofit leaders, and other stakeholders was an empowering experience. We represented dozens of different diseases, but shared one purpose: to celebrate those living with a rare disease and to raise awareness for the thousands of diseases that often are forgotten and overlooked.

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Busy Busy

I find that weeks quickly turn to months when I procrastinate writing blog posts. It’s been over a month since my last post, but at least this time, I have a good excuse: I’ve been busy! And this excuse involves several speaking and writing opportunities, which is even better. If I’m going to temporarily neglect my blog, it better be for something worthwhile, and everything in the last month falls into that category. I figure I’d let you in on what I’ve been up to.

It’s funny – most of the opportunities in the last month popped up last minute. Although being unemployed has its downsides, this time off has at least given me flexibility, which has allowed me to say yes to things that I otherwise would have turned down.

It all started in late February. As I mentioned in my previous post, on February 22nd I had the opportunity to appear on a local morning show to promote a Rare Disease Day event taking place at Quinnipiac University. I wouldn’t call myself a TV star by any stretch (although the bar has been set pretty low these days so maybe I am?), but I felt like a natural in front of the camera. As I talked to the host, it didn’t sink in that I was being watched by eyeballs all across the state. Looking back at the video, I was impressed by how comfortable I looked, which is a major change from my demeanor even a couple years ago. I don’t mean that in a self-congratulatory way – just that I used to be realllly nervous. Like, voice-cracking-from-nerves nervous.

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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.

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The Reluctant Traveler: TV Star(?)

Today I had the pleasure of appearing on WTNH’s Good Morning Connecticut, which is Ch. 8 here in the state. It was a great opportunity to raise awareness for Rare Disease Day, which is taking place this year on February 28th, and also to talk about my personal experience with a rare disease. I always enjoy opportunities like this to break out of my shell and reach new audiences. Many thanks to Quinnipiac and Ch. 8 for setting this up!

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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.

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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.

Rare Disease Day

What a day.

Last Monday – February 29th – was Rare Disease Day around the world. The day exists to raise awareness about rare diseases and the urgent need for increased funding in order to bring about treatments. Just as important, the day celebrates patients like myself who are living with a rare disease, and helps to reinforce how we are part of a much larger community. According to Global Genes, there are approximately 350 million people around the world living with a rare disease, which shows that collectively, we are anything but rare!

I had the honor of speaking at the Massachusetts State House as part of their ceremony to commemorate Rare Disease Day. I was actually supposed to speak at this event last year, but, as I’m sure you all remember so fondly, it was a terrible, terrible winter. I simply could not make it downtown with all the snow on the ground. Fortunately I was invited back this year, and I gladly accepted. Even better, there was no snow to be found.

I had not been to the State House in many years, and had never been in the Great Room – a large, open room on the second floor with high ceilings and natural light shining through the roof. It was 65 and sunny out, so there was plenty of sunshine in the room, which set the mood for the uplifting ceremony.

I was the third of four patients to speak, after opening remarks from the emcee and a state representative. There were over 450 people registered for the event, and almost all of them showed up, as all the seats were full and the back area was standing-room only.

When I got up on stage I was a little nervous, but then I calmed down and started talking. I reminded myself that I had given this talk many times before. I could have used notes but decided not to. For some reason I am more comfortable when I memorize what I am going to say rather than referring to notes as signposts. Every time I watch a speaker look at notes I get distracted, so I try to not be that person, even though it is perfectly ok.

My speech turned out well, although I always feel like I can do better. I am a bit of a perfectionist. Afterwards, I was approached by several people in the audience who enjoyed hearing me speak, and wanted to connect after the event. Perfect speech or not, this why I do it. I enjoy using my story to help inspire others and to open new doors for myself that would not have opened otherwise.

The only downside to the day was that it was exhausting; I just don’t have a lot of energy anymore. I tired out quickly from standing and talking to people, then sitting down for long periods of time, then alternating sitting and standing as the photographer took pictures. I got home afterwards and took a nap, and ended up missing class.

Nonetheless, it was an exhilarating day. In addition to speaking, I also had an article published on STAT, which has been a goal of mine since it launched late last year. STAT is a life sciences website owned and operated by the Boston Globe. I am one of the first patients to be featured on the site, which is quite exciting. Hopefully there will be more opportunities for me to write for them in the future.

I heard from people from all parts of my life who liked and commented on the article, and who wished me well as I spoke at the ceremony. All in all, this was a day and an experience that I will never forget.

Here are some links to the pictures that were taken at the ceremony: 

https://www.massbio.org/events/signature-events/rare-disease-day-43537

https://www.facebook.com/media/set/?set=a.10154569351133448.1073741930.377893583447&type=3