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.

Reality check

That was really hard.

We were invited to my uncle's house for shabbat dinner tonight. My husband Noah couldn't go because he had his holiday party for Kaiser at the same time (doctor's and nurses only). My dad was also going to my uncle's and together we decided he would come over early so we could drive together, mostly because I was concerned about coming home alone with both boys and getting them both inside safely.

So, all was running according to plan, (except for the addition of my 4pm visit to the ENT doc to evaluate my month-long laryngitis spell). At the last minute, I decided that my dad and I should just take our own cars. I was going to leave around 9pm (that's early for Persian shabbat dinners) and I didn't think it was necessary for my dad to drive all the way home with me, then pick up his car and then head back to my uncle's for the rest of the evening. Plus, he was on-call and what if he had to go in to the hospital for a delivery? I honestly thought it wouldn't be that big of a deal.

But it was.

When I brought both boys home, Lev was already asleep in his car seat. Asher was easy. He got out of the car and just wanted me to let him in the house because he was cold and tired. I said he could climb into bed and that I'd be there to tuck him in. I never made it in time. He eventually fell asleep. But that was not such a big deal. Better, in fact, because then I could take my time strategizing how I was going to get this 22+pound baby into the house without waking him. Meanwhile, Noah kept texting me asking if he should leave the party to come home and help me, but I genuinely thought I'd be fine.

The first challenge was just getting the car seat out of the car. Because my left wrist and fingers on my left hand are weak, I can't really get a strong enough grip on the bottom end of the car seat, so I always have to be right next to the stroller and hope my fingers don't slip. (I would never risk his safety, I somehow always manage, but it's always a major accomplishment. Luckily, tonight was fine). Then, I strolled him up the path and got to the two steps. I usually use the other stroller when walking (or someone's always there to help me) and in that moment I realized that no matter how many different ways I tried, I wasn't going to be able to get the stroller up the stairs. I tried to tilt it going one way forward and another way backwards. Then I decided I would just lift the whole seat off the stroller, and onto the top step. Okay, I was able to do that. Then I carried the stroller up separately. And that's where I really got stuck. I thought I could just put the car seat back onto the stroller and stroll him right into his room. But I cannot lift the car seat up off the floor. No matter how hard I try. Then I thought if I shifted the big handle forward, I could hold it by the handle rather than from underneath. The problem with that plan was that my left hand isn't strong enough to squeeze down on the part of the handle that releases it to pull it up. So I tried to release it with my right hand and quickly move my left hand there to keep it, but I just couldn't do it. By then I turned off the bright light on the patio because he was waking. I stood there in the dark, staring out into the sky, trying to juggle wanting to give up and break down and feeling proud of myself for not completely losing it in utter frustration.

Then I saw some dinner guests leave the house of the neighbors across the street. Ahhhh, this was my chance. My neighbor came out with her dogs and her girls and I called out to her. But then another neighbor with a dog walked up to her and their dogs started playing, loudly, on their front lawn. I called out to her a few times, but with my scratchy, quiet laryngitic voice, she just couldn't hear me. It also didn't help that I was wearing all black while waving and standing in the dark night.

By then I gave up. After all, was I seriously doing all of this in an effort to avoid waking my sleeping baby? Yes, but it was clearly more than that for me. I bent down to the floor, unbuckled him, and with all the strength I had, lifted him up and out and managed to stand back up. Of course, because I did it so clumsily, he woke up, but I managed to get him into his crib where he fell right back asleep.

If you're reading this, I imagine you may be thinking of all of the practical, wiser ways I could have avoided this: have my dad drive home with me, tell Noah to come home and help me, hire a babysitter, decline the invitation to go out, etc. But it's not the rational thinking that's hard. I know all of that. It's times like these when I am reminded of how hard it still is for me to accept that this process is happening to me, to my body and that I have to take responsibility for it and act accordingly.

I know the game I'm playing with myself. I know that I still sometimes turn to denial to cope with this disease because that's the safest place for me. I'm trying to hold onto the hope, maybe even the fantasy, that I can still do this. That I can be like so many other moms, like so many other people. That I can still be independent, that I can still be capable, that I don't have to inconvenience others.

But the simple truth is, I can't.

And sometimes there's just no way around it.

When a cold was just a cold...

This last month has been tough. I have literally been sick with one cold after another for what has felt like an eternity. And though, like most people, I've never enjoyed being under the weather, ever since being diagnosed with HIBM, being sick or suffering some sort of physical discomfort has taken on a whole new meaning.

In the old days, pre-HIBM, being sick meant feeling temporarily miserable. It was an annoying interruption in my day-to-day routine, but nothing that I ever really spent too muh time worrying about. Sure, it was frustrating not getting to the gym, but I could force myself to enjoy the down time and even the side benefit of not having an appetite and maybe losing a few pounds. Most of all, I could look forward to when I would feel healthy again and get on with my life.

These days, I long for when it was simply annoying to be sick. Now, being sick triggers a cascade of anxious thoughts and fears, some irrational and some, unfortunately, completely legitimate.

The first stressor is the fact that I can't exercise. Between having two kids and working more and more, exercise has been cut down to about once, maybe twice a week. People talk about how exercising keeps them sane, but for me it's so much more than that. It is almost the only way for me to have some peace of mind that my body can still do certain things. It is one of the primary ways in which I cope. It used to be about staying in shape and keeping my figure. Now it is just about trying to momentarily reassure myself that my body isn't completely failing me.

But it's not just the psychological benefits that I gain from working out. The truth is, my muscles are always atrophying at a slow rate. If I don't actively work on maintaining what I have, I will lose that strength. And thus far, that loss is irreversible. It's not as if I can get back in the gym after a few weeks and regain that strength or rebuild that muscle. So every day that passes without exercise brings with it a heaviness, a deeper awareness that I am losing strength and not doing anything to prevent it.

When I'm sick, I can't afford to not eat right or get enough sleep, despite my lack of appetite or tossing and turning in the night. I don't get to not take care of myself without paying a high price. I don't get to skip breakfast or eat cereal for dinner or be up half the night coughing without wondering how that's affecting my disease, my muscle strength, my future. The pressure can get intense. Sometimes, I just want the luxury of not caring.

When my body is even weaker and clumsier than usual, I am more dependent on others, namely my husband, and that awareness catapults me into a dark place. As I lay in bed in the early morning and hear the footsteps of my four year old down the hall or the cries of the baby who needs to be picked up from his crib, I am often overwhelmed with panic. The thought of pulling my body out of bed and shuffling across my room is too much in that moment. And when I'm sick and I can't even force myself to motivate to get up and out, I start to have flashes of what my future may look like. I start to hear in my head the words that are always used to describe HIBM, "severe incapacitation within 10-15 years of onset." I start to quickly re-calculate for the umpteenth time how long I've had it and how much longer until then. Worst of all, I start to wonder/dread what it will be like for my dear, sweet, loving husband, who already has to bear so much of the burden on my behalf. I look over at him, knowing he just wants to stay in bed for 5 more minutes and I am so in touch with the hatred I have for this disease and the fact that he has to be in this with me. No matter how many times he reassures me, I always return to the same thought, "he doesn't deserve this."

Living with HIBM means constantly trying to balance staying engaged in the present and feeling grateful for all that I do have against being overwhelmed by my reality, by the ugliness and inevitability of this disease and by the frightening unknowns of my future. I know I am always saying this, but it's the greatest challenge for me. I devote so much psychic energy to trying to stay calm, to trying to live in the now, to trying to not fast-forward every time there's a new loss. I suppose it's no wonder that I always get sick these days. I can only imagine the stress hormones that are being released on a daily basis as I try to keep the low grade, baseline level of anxiety under control. When my defenses, both psychological and immunological ones are lowered, I am much more in touch with what's really happening to me and I have much less strength to fight it. I become too aware of the fact that even when I do recover from my cold, I will still have to continue to fight this disease.

There's just no way around that reality. Sometimes all I can do is accept it. And that's just so incredibly unsatisfying. Especially when I'm sick.

Bittersweet

It's been a while.

Life has been a whirlwind and I haven't really had a moment to take it all in. I am grateful for the chaos though, as it keeps me too busy to get stuck inside my head for too long...

Today marks the beginning of an exciting new chapter in my life. After eight years of marriage and with our two beautiful healthy boys, my husband and I moved into our very first home. And in so many ways, it is all just so perfect- sunny and bright little Spanish-style, a nice quiet street, shops and restaurants near by and friendly neighbors with young kids all around us.

But as hard as I've tried to just stay with the joy, this stubborn, scary, nagging little voice has been haunting me. And it's been getting louder. I've done my best to ignore it until now, but I'm afraid that what it's been saying all along may be true.

You see, we spent many months looking for a house. There were some basic requirements, such as it having to be a one-story and on the smaller side, for obvious reasons. But in the neighborhood where we were looking, it seemed that we couldn't avoid a house with just a few steps to the front door and a few steps to the backyard. And all of them had layouts that included a hallway of sorts. At a certain point I realized that I had to accept that I wasn't going to find everything I wanted in one house.

Since I wear leg braces every day now, I had only ever gone to open houses with them on, partially because I didn't want to accept/believe that something as silly and minor as a couple of steps could come between me and my dream or worse, my husband's dream. So, we found this lovely little house. Just what we were looking for. And I convinced myself that the steps in the front and the back would be manageable. I decided that if I ever got to the wheelchair phase, then I could easily put ramps in. And if not, then I would just get railings installed on the sides of the stairs. And because of the long hallway, I would just keep my leg braces on all day and night, despite the callouses and the sore spots. That was my logical, rational mind talking.

And here I am. Our first night. I have been on my feet all day, moving since early this morning. It's 9:30pm and I have yet to take off my sneakers and leg braces. I am too afraid. Too afraid of how my body may (poorly) navigate through this beautiful new house and too afraid of how I will then handle it emotionally. Though I have tried to prepare myself for this moment for months- talking myself through the possible problems and potential solutions- for now I want to just live in the fantasy/ denial just a little bit longer: what if it's not as big of a deal as I thought? What if I won't trip on the slight elevation in the floor between the tile and our new hardwood floors? What if I actually will be able to carry a bag of groceries through the front door by myself without losing my balance?

Eventually, I will have to stop stalling, get off the computer and enter into my new life, but not because I want to. Mostly because I have no other choice. As anyone with HIBM can tell you, it's the initial feelings of loss and shock that come with navigating new territory that are the hardest, but eventually we find a way to adjust.

I am still amazed by how I can feel so extremely happy and grateful and blessed while simultaneously feeling so angry and sad and scared. How could I have looked forward to this day with as much passion as dread? How can I be so lucky to get to own a new home, be in love with my husband, have these two smiling little faces to wake up to and be surrounded by such wonderful family and friends AND have this nasty disease that continues to rear its ugly head in my most joyous moments?

I try not to question it.

I try to hold onto both extremes in one hand and try not to interfere with process that takes over in my mind and heart.

And most of all, I try to be in touch with the truth that some things are beyond the physical...

Just ask me.

A couple of days ago, I asked my four year old son if he wanted to come change his baby brother's diaper with me. As I slowly made my way over to the changing table, he ran (as he often does, because everything seems to be a competition these days) and arrived there first, stating, "I won Mommy! I'm faster than you. You're slow. You wear leg braces."

As I carefully placed the baby on the table, I was surprised by how little his statement bothered me. I didn't burst into tears. I didn't feel hurt. Nor did I feel angry. But why not?

Maybe because what he said was not a judgment, not a criticism, and not mean-spirited in any way. It was simply a descriptive, factual statement. He was merely commenting on what he has observed in his most innocent, untainted four-year old way.

It's been said plenty of times before- children bring a fresh, unfiltered honest perspective to our reality. They have not yet been influenced by the stigmas that seem to plague our culture and society. After I was diagnosed with HIBM, one of the many thoughts that kept recurring in my mind was the impact my disease would have on my future children and/ or on my relationship with them. I imagined angry outbursts on their behalf, "Why can't you just be like all the other moms?" Or sad moments, "I wish you could come ______ing with us (insert your favorite family fun sport- skiing, playing tennis, hiking). Or most devastating, "I'm embarrassed." Let's face it, kids don't like to be different. But where did that come from? Why is it that having a disability often provokes embarrassment, shame and a desire to hide? I should re-frame that. Why is it that I felt such feelings when I was diagnosed?

I suppose it's no surprise, for in my culture, disabilities, weaknesses, diseases and defects of any kind are considered taboo. But it's not just within the Persian community. Based on my personal experience, it seems quite pervasive. People are so uncomfortable around those of us who are different in this way. In the beginning, it took me a while to "come out." I went from keeping my HIBM diagnosis a secret from most to now wearing my AFO's (lower leg braces) out in public with a dress and sneakers for the world to see.

It continually surprises me how comfortable people are to stare at me or rather, to try not to stare at me, and yet how uncomfortable they are to ask me about my braces for example. There's a natural curiosity to their stares. And I get it. And that's okay. So just ask me. Ask me what they're for, how they work, what they feel like, etc. It's as if asking me about them or what's going on with me will somehow be upsetting to me or "make me feel bad" about it. But I am living it every day. It's already upsetting at times, whether we talk about it or not. It's when people don't ask, that it can feel hard. It can feel lonely. It feels as if it's too much for other people to hear, to take on. That's when it feels like it actually is a bad thing, something that shouldn't be discussed and something that I should try to hide.

Life can be difficult and challenging at times, but it doesn't have to be bad. We don't have to be afraid of the hard stuff. Sharing experiences and trying to understand what it's like to walk in someone else's shoes is what brings people closer and ultimately what fosters acceptance.

I happened to have been born with a certain genetic mutation that caused certain symptoms in my body. That's all. I have accepted that. I have made peace with it (or at least I try to most of the time). I wish that others could more easily accept it too. And not be afraid to look, to ask and to try to understand...