The Vortex

Today I had an appointment with a new orthotist (a person who fits one with AFOs/leg braces).  I wanted to find out if there were any newer, better options for me. If perhaps there was a new design that could be just as effective but perhaps somewhat more aesthetically pleasing than my black carbon fiber ones that come up just below my knee.

I don't know why, but I thought the appointment wouldn't be a big deal. I have been wearing leg  braces for a few years  now, so I figured the shock and trauma that I experienced in that very first visit (or even subsequent visits) wouldn't revisit me.  I figured by now I had become somewhat desensitized to the whole process. The process of sitting in a waiting room with people over twice my age (like the 80 year old man next to me today who needed AFOs post-stroke), of walking into an exam room with a clinician who of course has never heard of HIBM and who is somewhat mystified and in awe of my array of random areas of weakness, and the process of having to repeatedly answer, "I can't" in response to his requests to lift up my  foot or rotate my ankle. After examining me, he left the room to get a few samples of different braces for me to try on. As I sat there alone, a wave of disbelief came over me. I wondered if this was really happening to me. If this was really my life. If this was really how the rest of my life was going to go, only worse of course because my options would only become increasingly limited. And then I felt it coming. I knew I was slipping into the Vortex. That's the word I use to describe the space I'm in when I let the reality of this disease in, fully and completely. Sometimes I am just powerless to fight it. There is no positive self-talk I can do to try to protect against it. There is no way to avoid getting dragged into it. It's too big, too scary, too real.

When he came back in the room, he asked me if I had heard of electrical AFOs, where an electrode is placed on your leg and stimulates the weak muscle to contract for you. I told him I didn't think I was a candidate because I didn't have enough muscle tissue left and he said in his happy-go-lucky way, "Well, let's give it a shot, it can't hurt." So, he tried it. He kept cranking up the voltage. And though I felt the zap of the painful electrical impulse, it didn't translate into any kind of movement. I stared straight down at my limp, lifeless leg resting in his hand.  He could not awaken it. He eventually gave up telling me that he had turned it up so high that if it had been on his leg, "it would have kicked up to the ceiling." I smiled politely and said I figured as  much. I knew he had no idea how emotionally painful that little experiment had been for me. I knew he was only trying to be helpful. He couldn't know that he had added another little tombstone to my cemetery. It was a loss I had experienced a while ago now, but I was mourning it all over again.

By that point, I just wanted to leave. It turned out there was no newer or, as was my wish, magical brace that was going to change the fact that I have this disease and that I will be living with it in some capacity for the rest of my life. I walked back to my car, parked in the disabled parking space of this random parking lot and  closed the door. I let all the feelings in. I sank to the bottom of the Vortex. I stayed there for a bit. I didn't try to reconstitute myself before I was ready. I didn't try to think of the smiling faces of my children or all of the blessings in my life to make me happy. I gave myself permission to just be where I was.

Eventually, I got back on the road and came home to those joys. And I am slowly climbing back out.

But if there is one thing that I have learned in all of this, it's that the only way I can live most of my life outside of the Vortex is if I allow myself to sometimes fall into it.

One Day

People often tell me that I'm an inspiration. Or that I'm brave. When you see me, I am happy, I am positive, I am active and busy. I work hard, I'm grateful, I'm a mom taking care of two energetic young boys. And it's true, I am all of those things. But brave and inspiring weren't a choice. My alternative to brave is to give up. My alternative to inspiring is to fall into a dark abyss of anxiety and fear.

If you admire it - my happiness, my bravery - I wonder if you should know more about the elaborate coping strategy that goes into maintaining it. I wonder if you should know how hard I fight for it each day that I live with this progressively debilitating disease. I recently came across a video entitled, "Sh*t people say to disabled people." As I watched it, I was again reminded of how little people understand about what it means to be disabled.

Maybe if I share some of the small moments that make up my every day, you will see how insidiously this disease finds its way into so many of my thoughts, how I must confront it with every movement I make. These are the invisible moments that you could never really know unless you live in this body.

Wake Up. I'll start with the morning since waking up and falling asleep are two of
the most difficult parts of my day. I rarely wake up having slept all night,
uninterrupted. Whether I wake up in the middle of the night because a part of my
body has fallen asleep (because it doesn't have the strength to spontaneously
shift positions) and I have to vigorously shake it out or because I simply can't get
comfortable no matter how I try to strategically place the pillows, I usually wake
up feeling exhausted. The first thing I do is take a mental inventory of what's still
working and what's still not working. I try to wiggle my toes though I know it's
futile. Just a wish that I fantasize about, and test out, every day. Then I see if I
can make a fist with my left hand. Again, same outcome every time. I don't think
there's been a morning in the last 6.5 years when I haven't woken up with at
least a momentary panic. Every morning, I have to talk myself down from the
anxiety that sets in as I wonder how I could possibly wake up every morning for
the next 50 years in my body. And not just this body, but the one that awaits me
in my future. Then I hear one of my boys and I know I have to drag myself out of
bed. I place my hand behind my head because I have learned the hard way that
my neck no longer offers my head the strength necessary to support it when
sitting up. It only causes strain if I try. I put my feet on the floor and stand up. Half
of the time, I fall right back onto my bed because I can't maintain my balance. Or
my muscles feel so tight that before I try to take a step, I hold onto my dresser
and try to stretch out my calves. And then, finally, I take the first of the many
wobbly, uncertain, anxiety-provoking steps that I will take throughout my day until
I return to my bed at night to start all over again.

Get Dressed. I miss my pre-disease life when the only real “stress” of getting dressed was about what I was going to wear and whether or not it looked good. Now my time in front of my closet is spent wondering what sneakers I will pair with my leg braces and how much walking I anticipate doing. I have to make an informed decision as to whether or not it’s a day I’m up for the stares and whispers that come from visibly wearing my braces with a skirt or over a pair of jeans or whether I should just wear my wide-legged pants to hide from the world. Once I decide on the shoes, I have to take the insoles out of them, get my braces out from the other shoe and then slide them into the chosen shoe. Often times the velcro is stuck together in such a way that I don’t have the hand strength required to peel it apart.  If I’m lucky, there’s someone around to help. Otherwise, I have no choice but to just use my teeth. Once I get the brace on, I have to tie my shoes. It’s no longer a mindless or quick task.  I can no longer bend my left index finger and my right hand is increasingly uncooperative, so I have to use my other fingers to tie my shoes.

Navigate My House. Although I may complain about my leg braces, I don’t know what I would do without them. We have a love-hate relationship. They take me where I want to be, albeit slowly, but they demand a high price. The carbon fiber brace rubs against the back of my heels and the velcro strap around my shin causes soreness. Sitting with my legs crossed is almost impossible as is getting up from the floor. So I usually leave them off when I am at home to give my legs a break. But when I am without my armor, the fight is harder. Everything becomes even more of a struggle. Whether I’ve left my cell phone in another room of the house only to hear it ring from down the hall or whether my son is on the changing table and I discover his pajamas are in the laundry room, I have to brace myself for the journey. And more than that, I have to continue to increase and practice the level of my frustration tolerance because I simply do not have a choice if I want to move forward in some capacity.

Go To Work. Eventually, I make it out of the house. I fish around in my purse for my keys, cursing the fact that I can’t get a good grasp on them once I locate them. I get into my car. The first thing I usually like to do is put the window down, which is relatively easy. But putting it back up is a different story. I have to try to hook my weak fingers under the controls and lift my entire arm up to get it going. Sometimes I reach over with my right hand to do it and sometimes I just skip the fresh air all together. Once I get to work, I drive into the parking lot praying that one of the three disabled spots will be available. I walk down the hall as quickly as I can, hoping not to encounter any patients and once I get into my office, I close the door behind me, relieved that I made it once again without getting caught. (I still haven't quite figured out how I want to navigate my professional and private life in that dimension).  It’s not comfortable to wear my leg braces, so I take my flats out of my desk drawer while pulling off the straps of my braces, roll down my knee high socks and hide them all behind the trash can

under my desk. And then, I am officially transformed. I am more comfortable. This strategy works well until I inevitably need to go to the bathroom in between patients. It’s too labor intensive to switch back out of my flats and into my braces, so I brave the walk back down the hall to the bathroom defenseless. Only having the walls of the hallway to steady me and a hope that my feet will clear with my steps so I don’t trip and fall. Once I make it back to my office, I can resettle myself. Until it’s time to go home.

Coming Home. My house has a few shallow steps out front.  It seemed impossible to find a house with a completely flat entrance. So when I get out of my car and reach those steps,  I have to put down any bags I’m holding, not just because I feel the burn in my muscles from carrying, e.g. my purse, on my shoulder, but because I have to focus all of my efforts on putting one foot on the step, balancing it there and then slowly swinging my other leg around to put my next foot on the step. And then repeat for the next step. It’s always a bit precarious, and I’m always hoping that this isn’t the day that I fall backwards. Eventually, I make it to the front door.  Now I have to use these fingers to get the key into the keyhole.  But then I am soon greeted by the smiles of my boys. And as joyful as it is to be with them, now begins the next challenge of my day - trying to kneel down to their level, trying to lift the baby up, trying to get to them before they fall off whatever they might be climbing.

I wonder if you are starting to find this a little tedious.  You might not be interested in the strategic thinking that goes into rolling up my car window or putting on my leg braces.  And here we are at dinner time.  We haven’t even talked about trying to cut up vegetables or take a pot off the stove.  We haven’t talked about trying to cut up my kids’ food or open a Ziploc bag.  We haven’t talked about how my muscles now burn because it’s the evening and I’ve been maxing them out all day on the most basic tasks. 

This is my day.  This is my world.  I would love to spend it thinking about something else, but I can’t.  And this is today.  I don’t know if tomorrow might be a little harder.  And what about next month? And what about next year?  How I will be able to continue living this life in a progressively weaker body? 

I usually save those questions for the nighttime, when I’m back in my bed, before this starts all over again in the morning.

Four blocks

Today was my son's first official full day of kindergarten. A day filled with anticipation, excitement, nervousness and unknowns. And not just for him. If you've had the experience of launching a child into the post-preschool world, then you are familiar with the anxiety of a parent who is hoping for the most positive experience for his or her child. But for me, as with most new experiences in my not-so-new-anymore HIBM life,  there is another dimension to my anxiety. The sadness. There is a period of mourning that always has to take place with new situations. I have to confront new losses and thereby disrupt the homeostasis that I had previously worked so hard to maintain. I have to be reminded that I only get to feel happy and comfortable in my routine for so long.  This wonderful milestone of kindergarten for my son and our family, this "first" for him,  is unfortunately at the bottom of a long and growing list of first losses for me.

When I was first diagnosed  with HIBM, I couldn't stop myself from thinking about the future, agonizing over how different my life was going to be compared to how I imagined, expected, assumed  it would be.  I would think about things that were so far off in the distance, things that had no relevance to where I was at that moment. Things that people would tell me to not worry about, but that I would dread nonetheless. It's one thing to mourn them in advance. It's a whole other thing to mourn them in reality.

Last summer we moved to a new neighborhood with an excellent public school so our son could start kindergarten there. We were lucky enough to find a place four blocks away from school. What a dream come true- being able to walk to school  with all the kids in the neighborhood. For the past year, I could simply enjoy that dream without having to try to actually live it. But as the start of school approached, and as our son's excitement over walking became evident, I started to feel the panic set it.  I have somehow been able to live the last 5 years of my life in such a way that it hasn't interfered too much with his. Or at least, he was too young to see how it was interfering. I've tried to keep his life as "normal" as possible. Of course, it helps that he's not that into sports (not yet at least), so I haven't had to confront those old fears  of how I would keep up with him running along the soccer field, etc.  But right now, he's not asking for much. But even that is too much. He's asking just to walk to school like all the other kids do. So, when he asked to walk yesterday, my rational logical self could have immediately explained that because I have trouble walking, it's not an option for us (at least when I take him) and that I have already talked with the wonderfully supportive people at the school and they have arranged to make disabled parking more accessible for me. But, my emotional self immediately made room for a bit of denial and started wondering if I really couldn't do a measly 4 blocks? I mean, after all, I do go to the gym once a week and do the bike or the elliptical. Perhaps I could pull it off?  So, with that can-do attitude, we walked the first day.  Right alongside of everyone else. Sure, I was slower than others and sure, I was fatigued and a bit sore, but I told myself it wasn't that big of a deal. Then I walked home and wondered whom I thought I was kidding. It was a big deal. It wasn't easy for me. But I still wasn't ready to give up yet. I decided this morning that we would drive halfway, park and then walk the rest. But even the slight incline up the last block was a challenge. And then I finally  had to accept that  it wasn't going to work for me. And that I wasn't going to be able to indulge his simple, innocent request to walk the few blocks to school.

It may not seem like such a big deal, it may seem so minor in the grand scheme of life, it may be such a "first-world problem" when there are families who have to commute over an hour to school, but for me, it's adding another loss to a long list of losses, in permanent ink. The visual that comes to mind for me is staring out onto my very own cemetery with lots of tiny little tombstones labeled with the various losses I have endured:  "running," "walking without braces," "hiking," "slipping on shoes and heading out the door"  "playing guitar," "playing chase with my kids" and now "walking my son to school." I want to turn away from it, but with each tombstone that's laid down, I know I have to mourn. The hardest part is that it's no longer for myself. I can no longer shield my son from the fact that I am different. And that he will be different,  and sometimes limited too,   because of me. When he was a baby, I used to dread him growing up and being angry with me or embarrassed by me, but then I saw how he simply and easily just accepted it.  I will never forget the day we got off the tram at Disneyland over a year ago and without thinking I blurted out, "I'm so excited I wish I could run!" and he said, "Don't worry Mommy, I'll walk slowly with you." I understood then that maybe it didn't have to be the way I thought. But he was younger then. His life is evolving, he wants to do more things. He wants to move faster. He wants to be more involved. He wants to keep up with the other kids. Now it's, "Mommy, come on, hurry up!" I wish I could. I wish I could  give him that. I wish he could have that. But that's an emotional need that I have. I know that he doesn't need that. What he will need is to learn how to cope with my disease. How to adapt. How to accept that life won't always go the way he or we want it to. I try to remind myself of a quote that is always in the back of my parenting mind, "Don't try to prepare the road for your child, try to prepare your child for the road." I just wish there were another route for me to teach him about hardship in life.

I continue to hate that this is happening to me. I hate that my boys will sometimes have to suffer, on however small of a scale, on my behalf. I hate that I keep needing to make more room in the cemetery.

But I also can appreciate all of the flowers that are growing in between. New ones sprouting up all the time. They are beautiful and they belong to me too.

That time of year...

For the last few years, birthdays have been a bit tricky for me.  As I shared in my very first blog posting one year ago (yes, it's my blog's anniversary tomorrow), having a progressively debilitating disease can make any regularly-occuring marker of the passage of time anything but celebratory. What's there to celebrate about being one year closer to worse?

So with that in mind, six months ago I decided that my husband and I should plan to take a vacation alone, just the two of us without kids, on my actual birthday. I figured if I could just "escape" on that day,  I wouldn't have to dwell on the significance of the day itself and I could look forward to my birthday and the six months leading up to it with a very different kind of anticipation than before. Or at least that's what I told myself.

And here I am, the day before the big day and I am disappointed to find that although my little strategy did pay off for most of these six months, it doesn't seem to be working right now. The ineffectiveness of my coping mechanism (aka denial) became evident this past weekend when once again, I had to learn the same painful lesson I always do- there's no such thing as an "escape" when your  disease follows you everywhere you go.

We took our boys (one and five years old)) to San Diego to a beautiful resort hotel complete with pools, water slides, expansive grounds and a whole lot of barefoot walking. And though I loved seeing their sweet happy faces as they splashed in the water and their delight as they ran up and down the hotel hallways, I was painfully reminded that rather than vacation being a carefree time of relaxation and "getting away from it all," for me and my life with HIBM, vacation is more akin to going to war without my usual armor. Perhaps that sounds dramatic, but let me explain. These days I don't leave the house without my leg braces. I simply can't. They are how I function in the world. And I have figured out how to manage my surrounding environment enough to the point that I generally know what I'm up against and I have a routine to which I have ultimately adjusted.  But when I go somewhere new, I feel vulnerable and defenseless. It requires me to navigate new terrain and in the summertime especially, when the pool is the main activity, it means trying to walk barefoot.  It means having to confront all of my limitations and investing a lot of emotional energy in having to actively redirect my thoughts. All they seem to want to do in those moments is flash forward to the future with all of its unknowns and force me to be in touch with how much harder life will get- specifically activities that used to be so pleasurable and fun. Rather than feel at peace and in the moment on vacation, I find myself feeling anxious, frustrated and sad. Rather than leave my worries from my "real life" back at home, my reality becomes more magnified as I am in my head doing more processing than ever.

This past weekend, my mind produced what felt like  a running commentary. I looked at all the able-bodied people around me, strutting around the pool, oblivious to their every step- where their feet would land and whether or not it would be slippery and I felt angry and sad. But then I quickly made room for the gratitude I had for simply being in such a beautiful place, for being able to afford to take a vacation with my kids, for the slow and calculated steps I still could make. I would see all the moms scooping up their kids and carrying them into the pool, tossing their babies up and down while I stood there stuck, able to hold my 15 month old but unable to take a step with him in either direction until someone came to rescue us. But then I paused, held him tighter and reminded myself how blessed I am to even have children.

I had moments when I was acutely aware of how hard it is for me at this stage and I tried to imagine how I could possibly keep this up with my kids (who are still so young) and with a body that will be even less capable and independent and I am became overwhelmed by anxiety and a desire to just avoid experiences like this one. And then I remembered  that during the last vacation we took two years ago to Hawaii, I spent the first two days crying over all of my losses and I realized that this time, I didn't cry. I was better able to observe my thoughts and feelings without reacting to them. That was growth that came about only because of all of the sadness I have felt/allowed myself to feel on this journey. I know that the more I expose myself and the less I avoid,  the less the pain interferes with my ability to be engaged in and enjoy the present.

If this post reads as somewhat inconsistent and confusing, that's probably because it is. With every experience I have in my "new life" and body, there is a cascade of thoughts and feelings, which are often opposing each other. I am constantly mourning the losses while celebrating the gains. I am often wishing I could do all of the simple things I used to be able to do, while still feeling grateful that there are so many things I still can do. I am seeing the future and its potential devastation to my life and I am looking at all the the joy around me, right now in  my life. By no means have I mastered it. I will always be a work in progress. But one thing I do know and am finally starting to believe is that my disease is not the only process that is progressing and evolving. So am I. I am adjusting, I am evolving. And as I go along, I can only hope that I will  continue to adapt new coping mechanisms adequate enough to meet me wherever I end up.

So as I head to the airport tomorrow morning, I will try to remind myself that all of the anticipatory excitement I was feeling about this trip with Noah actually didn't revolve around me walking around the pool effortlessly or jogging on the beach or being able to wear flip flops. What I was really looking forward to was having uninterrupted alone time. Being able to sleep in without kids or an alarm waking us up. Being able to lie on a lounge chair beside him, read a book and officially celebrate our 9 years of marriage. Framing it that way- being in touch with that reality- makes me want to get off the computer and go pack.

So before I go, I just wanted to thank you for making my entrance into the blogosphere this past year feel so safe and for all of the support and compassion and words of encouragement. If you only knew how closely I've held it all to my heart and how I cherish being able to take it with me wherever I go.

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.