My Holiday

Today is Rare Disease Day. And despite all of the talking, sharing, writing and public speaking I do about my rare disease, HIBM, it is still hard to believe that I actually have one.

I still can't fully take in the fact that I have a disease that only a handful of people in the United States are living with and that less than 1,000 people have been diagnosed with in the entire world. (Half of them in Japan living with the Japanese variant of HIBM). Of all the 6 billion people in the world, I am one of the few who got this disease.

There's no point in dwelling on this fact for too long of course, but every now and again, like when there's an annual day to acknowledge rare diseases, I am reminded that I am one of those people, for example, in that video that is circulating about rare diseases. (You can check out the one minute video at http://www.youtube.com/watch?feature=player_embedded&v=LBVug-GVLg0).

So, in honor of Rare Disease Day, I am posting a video of the talk I gave in San Diego last Friday at the 3rd Annual Sanford-Burnham Rare Disease Day Symposium. I was invited by the organizer of the event, Dr. Hudson Freeze, who is probably one of the most compassionate scientists I have ever met. The symposium is based on the concept that "treatment of rare diseases requires participation and exchange among all stakeholders—scientists, physicians, affected patients and their families, support groups, granting agencies, industry, and philanthropists." Since this talk was to be of a more scientific nature, I was not expecting the kind of response I received from the audience. And I wasn't expecting to have the emotional reaction I did while speaking. When I have given speeches at the NDF galas in the past, it has been to a ballroom full of familiar faces, but this was in a brightly-lit auditorium, essentially full of strangers (except for my sister and an old friend from residency). I wasn't expecting to look out and see people staring at me intently, hanging onto my every word, their eyes full of compassion and concern.They quickly transformed from being complete strangers to members of my new community, my people. We were all there fighting the same fight- to raise awareness, to share research, to brainstorm about treating rare diseases and to explore everything from the scientific aspects to the political realities of therapies and interventions for rare diseases.

So, here is the video. It is about 15 minutes long. If you only have 5 minutes, I would ask you to watch the last 5, as I believe those to be the most important.

Thank you as always for your support.

Jennifer's NDF-HADASSAH Speech from the Fundraising Gala for HIBM Resear...

When the disease is only half the battle.

This week was one of those weeks when I was made acutely aware of the fact that most people in the world-or at least, in my world in West Los Angeles- are not disabled. And as such, most people just don't get what it's like to not have their body function as it normally "should."And therefore, they sometimes simply are not able to put themselves in my shoes or worse, not willing to even learn more about what it may be like to try to walk for a day in my shoes. Because I imagine if they were able to do so, then experiences like the one I had this week wouldn't be so painful.

I honestly don't want to get into the details, just because I'm not in the business of bashing people, but the short story is that the accessible disabled parking spaces at a place I go to and from quite frequently became inaccessible overnight, literally, and it seemed that no one really factored in, at the time, how that would impact the very few of us who rely on those blue spaces to make just one part of an otherwise hassle-filled day a tad bit easier. So of course, when I discovered this, I immediately starting asking questions of the "higher-ups" and what I found along the way was not what I expected. My requests were met with resistance. Attempts were made to offer me options that simply were not realistic given my limitations, and when I tried to explain why, I was essentially told that clearly there were options, I was just not willing to accept them. If I were only willing to do things a little differently, then everything would work out fine. I started to feel like I was being demanding, as if there were something wrong with me. I was told that I was being offered "accommodations" and that I should try to "work with them" as they were trying to "work with me."

So, what was wrong with me? Why couldn't I just be more gracious that they were supposedly doing the best they could? Why did I have to be so difficult? Why couldn't I stop crying about it? Because it triggered a cascade of deeper, more devastating thoughts- painful reminders that I do have this nasty, awful disease which does make doing everything in life so much harder and more effortful and that I am different and that I do have certain needs and requirements that others don't and that I do have to sometimes burden others with them.

But after the sadness (and fears and anxiety) about this being the rest of my life, the anger set in. It didn't take long to realize that rather then they accommodating me, I was having to accommodate them. It was unfair. It was shameful. It was infuriating. And it was just another small taste of what it's like to live as a disabled person in this world.

Yes. I am disabled. I am handicapped. I am whatever you want to call it. I am one of those people whom you try to look away from yet you can't help but stare. I am that person whom you don't want to take into consideration when instituting a change because it's simply too much of a hassle. I am that person who seems to get around just fine in my leg braces, so what would be the big deal in walking around the building or going up a few stairs? I don't think it's peoples' fault necessarily. We are taught in school about discrimination based on race, color and gender, but are we ever really taught about discrimination against those who are disabled? Are we taught to look at them, to see them, to ask if they need help? I remember in my first year of med school, in my "behavioral science" class (one of the few courses that called attention to the non-medical issues of humanity), the professor asked us what we did when we saw someone in a wheelchair struggling to open a door. Do you ask if she needs help? If you do, is it an insult to her ability to perhaps be self-sufficient? Is it awkward to even call attention to the fact that she's disabled? Could it even be rude? I was so ignorant then. I was one of the many who didn't quite know how to approach a disabled person. I'm embarrassed to admit it.

So I get it. I get that I can't expect everyone to accommodate me. (Even though it's the law). But it's no longer just about me. It's about all the other disabled people out there without a voice. It's about all of the disabled women, even if just one other, who comes after me looking for a disabled parking space. It's about standing up for my rights, advocating for fairness, setting an example for my boys to fight for what they believe in and ultimately, educating others. Life is already so hard, life with a disability even harder, and life in a world where you have to defend and explain yourself and your disability, even harder still. It's one thing to live with a disease. It's another thing to have to regularly and painfully confront how much it gets in the way.

By the end of the week today, I finally reached out to someone at the top who did get it. Someone who apologized for those I confronted along the way. She reminded me that not everyone understands, not everyone is capable of doing so, and not everyone may know when it can be okay and even indicated to "break the rules" or be more flexible. And she reminded me that there are people in the world who do in fact get it and for them, I am so grateful.