Imagine

I am going to post something a little different tonight.

I have always said that one reason I am able to cope with HIBM in the way that I do, is because I am lucky to be surrounded by such a strong support network- family and friends who are there for me in any way I need them to be. 

Last week, I met with the rabbis at my preschool/temple to talk with them about how we can raise awareness and broaden people's understanding of what it's like to be disabled, from the preschool level on up. Just before that meeting, I was talking on the phone with one of my dearest, closest friends, Gabrielle, about what I/we would want to communicate to people about what it’s like for me and others in our community who are disabled. Ten minutes after we hung up, I received the following email from her, sharing with me what she imagined she would say to people if given the chance to talk about my disease. I can’t help but share it with a larger audience and after you read it, I think you'll understand why...

“I remember one early conversation Jen and I had about her disease.  I told her, “I will never be one of those people who tells you ‘I can’t imagine.’”

I don’t believe in that expression.  We teach our kids that they can imagine anything.  Imagining isn’t just for conjuring castles or superheroes.  We can imagine suffering too.  I think we do it all the time.  But somehow, “I can’t imagine” has become this thing people say when they hear about something hard and think, “I don’t know what to say.  I don’t want this person to think I’m so arrogant as to say I can imagine what it’s like to stand in her shoes.”  Although well-intentioned, I think “I can’t imagine” only adds to the loneliness of something painful.  In our unwillingness to risk imagining for fear of getting it wrong, that expression says, whoa, I can’t go there with you, I can’t even talk about it with you. 

So I tell Jen, I will try my best to imagine.  I want to understand this disease. I want to read as much as I can about it. I am grateful for the opportunity to read what other HIBM patients write or draw about their experiences.  I want to listen to Jen tell me as much as she wants to share about what it is like to live and parent with this disease, what it is like for her body and her mind, what the small moments feel like each day, what she panics about in the middle of the night.  I don’t need to preface my understanding with a cap on its possibility – I don’t need to tell her I can’t imagine because I’m able-bodied.  Or I can’t imagine for any other reason.  Because I love her.  So, yes, I can imagine how hard it is for Jen to struggle to pick up her baby or to walk up her two front steps.  I can imagine how scary it is for her to slowly lose her mobility. 

I wish we all spent more time imagining each other. Then maybe we would keep each other better company.  Maybe we would help each other a little more and a little quicker and with a little less effort or awkwardness.  Understanding takes effort and risk.  Sometimes Jen and I talk about how people are afraid to ask her about her disability and disease, but unafraid to stare at her or look away.  Of course, most of them are no doubt kind, caring people, who just worry, “what if I don’t say the right thing? What if I say something that makes it worse for her? What if by acknowledging her disability, I make her think about it?” I don’t worry about those questions.  I know that everything I say to Jen comes from a place of openhearted, pure intention.  I know that nothing I say has the power to make this disease any worse than it is.  I know that if I ask her a question, she will answer it honestly.  I know that if I say something that doesn’t match what she’s feeling, she will tell me and then I will take that learning into our next conversation.  I also know that magic words don’t exist, even though there are times I wish for them more than anything, because let me tell you, I would give them to Jen.

Jen knows that I follow her into her dark moments to keep her company, not to make them disappear.  Same way she follows me into my dark moments, trying to imagine with me about my life, with no cap on her ability to understand me.” 

Dreams Can Come True

Tomorrow my baby boy will turn one.

Not only will I celebrate his first year of life tomorrow, but I will also celebrate the first anniversary of a dream come true for me. I will be reminded tomorrow, and probably every birthday of his thereafter, of all that is good in the world. I will be reminded of the fact that if I want something badly enough, and I'm willing to be flexible in how I go about getting it, I can and will find a way to make it happen. His birthday will always be proof that if I listen to my heart, if I trust my inner voice, if I believe in myself and not let others sway me, I won't go wrong.

I wish I had more time and energy in this moment to really share the journey I traveled along to get here. And hopefully one day I will...To share what it was like choosing to get pregnant with my first son, almost six years ago, months after being diagnosed with HIBM and being told pregnancy would likely accelerate the progression of the disease. What it was like to experience the joy of breastfeeding him exclusively until discovering, when he was 10 months old, that human milk is one of the richest sources of sialic acid (the enzyme that is deficient in my disease) and that nursing him likely leached large amounts of sialic acid form my body and then confronting all of the feelings that came with that ugly realization. What it was like to have all of my friends get pregnant with their second, while I grappled with trying to figure out how much worse I'd be willing to get if I carried another baby, especially after hearing about women with  HIBM who become wheelchair-bound after pregnancy. What it was like to watch my sister, whom I love so dearly, become pregnant with her third child. What it was like to visit her in the hospital the day she gave birth,  me in tears, sobbing in the waiting area, crying in the bathroom, having to leave and go to the lobby, not even being able to bring myself to hold my beautiful newborn niece and hating myself for mourning my loss rather than being able to share in her joy. What it was like to accept the fact that carrying a second baby would be too risky and how desperately I tried to make peace with having only one child. Realizing I didn't want to mourn yet another loss from HIBM and that I did indeed need to find a way to have another baby. Deciding to move forward with surrogacy. Going through the physically, emotionally and financially taxing process of three different surrogates and two  infertility cycles over the span of two years...And then,  finally, standing in that delivery room on the afternoon of March 14th, one year ago, gripping the hands of my husband so tightly, feeling completely overwhelmed by so many emotions at once, watching this new life emerge into the world with the help of a woman who will always hold a place in our hearts and our family, and basking in the joy of knowing that no matter how much HIBM takes from me, no matter how much loss I endure at its hands, no matter how disabled my physical self may become, I didn't let it take from me what matters most in my life.

I look at my family now and I feel complete. I look at my older son and feel my heart at ease knowing that he will now have a partner whose hand he can hold when life with me, a mother with a progressively debilitating disease, feels scary and overwhelming. He will no longer have to be alone in this. He will not carry this burden by himself. I look at my husband and see him experience the joy that he never imagined he would feel sharing life with two kids. I look at my nieces and watch the fun they have in playing with their new baby cousin. I look at the grandparents and see their delight in having another little person in their lives and most of all, I look at me. I look at this beautiful little soul, my own personal miracle, whom I get to love and cherish and watch evolve. And I know, in my heart, that it was and likely will always be my greatest accomplishment in life. There isn't much more I need right now, in this moment.

Sure, it would be nice, to not have this disease. But right now, I wouldn't trade this life that I have for anything...

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.