To my fellow HIBMers who know these feelings all too well...

That feeling you get when...

...you physically can't move out of the way (as in, just side step) when someone's trying to get by and he or she thinks you're just being rude.

...there's an earthquake and you realize you are completely helpless to escape in that moment (let alone to be able to run to your kids when they may need you most).

...someone who's ahead of you (and maybe in a rush) is being kind by holding the door open for you and you feel terrible because they don't realize how long they will have to wait until you hobble your way over to them.

...you meet someone for the first time, e.g. in your new book club and you don't know how, when or even if you should or need to reveal this "secret" or plain simple fact about yourself and your disability.

...you meet someone new, whether it's sitting in a parents' meeting at school or swimming in the pool at the gym and eventually you know you'll have to get up and out and display your disabled body and awkward gait for everyone to see and you are once again reminded that you will never have the luxury of just being you rather than you with the disability.

... you're at the supermarket check-out  and you realize you forgot to get something, but the line behind you is so long that you just accept defeat and plan to get it the next time. 

Then there's the feeling you get when...

...you hire a ski instructor (who's not part of the adaptive ski program because they happen to be shut down for the few days that you're there) and you tell him you feel bad that he has to constantly take his skis and gloves on and off and then bend down to attach and detach the special hardware on your skis every time you get on and off the lift and his response is, "Are you kidding me? This is nothing compared to what you have to deal with on a daily basis."

...you've spent the last 7 years dreading the day when one of your sons would eventually have to help you physically in some way and it turns out it's actually not a burden for him but rather something he does naturally and with such pride.

...your receive weekly deliveries of fresh pomegranates seeds from your father and step-mother which they've spent hours processing for you because they want to ensure you're eating enough antioxidants.
...your mother and mother-in-law drop everything when you say your husband's on an urgent care shift and you need help with the kids.

...your husband surprises you and takes it upon himself to have railings installed on the sides of the two steps in front of your house that have been giving you trouble for a while, because you couldn't bring yourself to deal with it in any productive way.

...you discover a cute new pair of retro sneakers to add to your collection of lace-up shoes only and you get a boost.

...your preschool mom friends regularly check in with you at an indoor gym birthday party to see if they can help you out in any way.

...you travel through your life and realize that your highs are incredibly, unimaginably high and the lows are tragically, painfully low, and you conclude that you'd rather struggle to hold onto and  experience  all of it than settle for the alternative.

I'll Go On

Today is international Rare Disease Day. And on this rare, very rainy Friday in Los Angeles, what was most on my mind all day was the fact that before HIBM, I don't think I ever once thought to consider the impact the weather can have on the lives of people with disabilities. I don't judge myself for it. It's just one of those things that would likely never enter into one's mind unless or until one is confronted by it first-hand. I am lucky to live in Los Angeles, where the elements almost never work against me. And so it is probably because of the infrequency of such weather that it hits me as hard as it does and did today.

As I woke up to the sound of pounding rain on the roof, one of my first thoughts was what shoes I would wear as I trekked around town, getting everything done that I needed to today.  I wondered if I would be more excited for the rain if it meant I got to pull out a pair of stylish, barely used rain boots from my closet. Or, any rain boots for that matter. (I have yet to find a pair of rain boots with a zipper down the back that would allow for me to insert my leg braces). When I arrived at my first destination and opened the car door, I took out my new umbrella in one hand while still sitting in the driver's seat (and while also holding my phone, talking to my sister in the other). I was running  late for an appointment.The rain was coming down hard. In my old life, I would just press the little button on the handle to allow for the umbrella to open and be ready for use. But in my current life, my right thumb doesn't have the strength to push it down all the way and so as I'm getting soaked in the rain with my car door open, I had to abruptly hang up the phone, put everything else down and then use both thumbs to open it. This may sound like a minor inconvenience to some, but in that moment I am made acutely aware that even the simplest of physical tasks are challenging for me. I am frustrated, angry and sad that I have to tolerate this disruption, both on a practical and an emotional level.

Of course, then there's the business of not being able to jump over puddles or step up onto a curb easily to avoid the small river that forms between the street and the side walk...

But I will stop there.  This is just a few minutes of the life of someone with a disability. And that's someone who is still relatively able-bodied.  And who has so much farther to go. I am still at the beginning. This is nothing relative to what may be coming. There are HIBM patients using canes, walkers and wheelchairs, trying to navigate their way through slippery sidewalks or worse, being forced to stay home and not get to participate in their lives the way they wish they could. There are patients waiting out in the rain for public transportation because they no longer have strength in the muscles needed to drive a car themselves. The ones who have become even too weak use hand controls so as to preserve some independence.

So, where does that leave us? Where does that leave me?

I recently read an article in the New York times titled, "How Long Have I Got Left?" written by Paul Kalanithi, MD, one of the chief neurosurgical residents at Stanford. He shares his experience of being  recently diagnosed with metastatic lung cancer. He describes what it's like to have to cope with confronting his own, very real mortality on a daily basis at age 36. In doing so, he refers to 7 words written by the playwright Samuel Beckett that have stayed with him since he had read them years ago as an undergrad: "I can't go on. I'll go on."

And much in the way that Paul Kalanithi was profoundly impacted by this simple phrase, I too have been holding it close to me. It has been incorporated into my armamentarium of coping tools. In fact, it's at the top of the list. Somehow, some way, we do it. We move forward. We endure the loss.  We find the blessings and joy in our every day lives to balance the depth of the pain.  We think we won't be able to handle the decades that are presumably ahead of us, but somehow the years pass and we're still doing it. Those of us with rare diseases don't have the luxury of knowing that there are billion-dollar pharmaceutical companies lining up to cure us the way people with lifestyle diseases, such as high cholesterol and hypertension do. We don't have the benefit of research institutes across the nation focused on curing our disease the way other devastating but at least much more common diseases do. We have to pull from all of the resources that we have within us. We have to cultivate our resilience in a way we never imagined we'd have to. We have to raise awareness. And we can never give up on believing that now matter how ultra-rare our disease is,  there will always be hope. No disease can take that away from us.

I can't go on. I go on.

Guitars and Tombstones

Last Friday afternoon I was surprised to discover that my old acoustic guitar was in our living room. When I asked my son-who was playfully strumming the strings at the time- how it arrived there, he told me that my mom had dropped it off. She had apparently found it while cleaning out her basement.

I took a moment to figure out how I felt about it. I wasn't sure. I actually didn't want to feel any feelings about it. So I simply didn't let myself. I quickly moved out of any potentially emotional space and focused on how cute my son looked playing my guitar.

Throughout this last week, I've looked at my guitar from a distance. I've watched my two boys try to play it, bang it around, fight over it and simply enjoy having a "real" guitar in the home. The only time I actually let myself hold it in its proper playing position was to attempt to tune it. Then last night, after the boys and I had been messing around with it on the living room floor for a while, my husband called them into the bathroom for bath time.  They ran down the hall leaving just the two of us behind-me and my beloved guitar. 

I first started playing guitar as a sophomore in high school after years of playing the piano. I absolutely loved it. My guitar teacher would come over every week and fill my binder with some of my favorite songs. I especially fell in love with playing classical guitar. And I just felt cool playing the guitar. Funnily enough, though it was long before I had a husband or kids, I used to fantasize about how I would one day play to my future kids all the camp songs I sang as a kid. I dreamed about playing my favorite guitar song, “Blackbird,” for the baby I hadn't even had yet.  I imagined jam sessions with friends as I got older; you know, the way cool middle aged folks do in the movies.

I can't pinpoint exactly when I realized my fingers on my left hand were too weak to bend far enough to actually press on the strings, but I know that at the time, I was so distracted by so many of the joys in my life, that I didn't really allow or feel the need to let it in. Plus, it helped that I had barely had time to play in the few years prior anyway.

But here I was, alone with my guitar for the first time in years, and I wondered. Is it possible that maybe my left hand's not as bad as I thought? Are there some chords that maybe I could play? Individual notes perhaps? So I let myself try. On some level knowing the outcome before I started, but also knowing I needed to test it out, one last time.  I tried with my hand and fingers in every possible position. I tried to will my fingers to bend all the way. I tried to see if I could play with my guitar on the floor and my fingers coming straight down from above. I was operating in a very practical, intellectual, problem-solving  manner. I wondered to myself what real guitar players do. Surely there are professional guitar players who succumb to rheumatoid arthritis or muscular  diseases and still find a way to continue playing. I picked up my phone and found the number to The Guitar Center. I called and asked if there was a device or contraption that I could use to somehow extend my fingers/ help keep them in a bent position. "Nope, sorry. We don't have anything like that."

I hung up. And I sat there. I felt the feelings coming on but I quickly went through my mental files, trying to pull out the one that could help me defend against the pain that was slowly moving in: "I can still listen to music. I can still enjoy music even if I can't play it. I hadn't even played it for so long before my finger weakness, so what’s the big deal?..." I was desperately trying to reassure myself that it was okay. But it wasn't okay. It hurt. And then finally, I allowed myself  to grieve. To mourn this loss. To erect a new tombstone in the cemetery of losses due to HIBM labeled, "Playing My Guitar." The truth is, though I already knew I had lost it, I hadn't yet allowed myself to go to the funeral.  I hadn't been ready until last night. In fact, just last year, my sister asked if she could give my guitar to my niece who was ready to move on to a bigger guitar and I said "no," almost reflexively. I knew it didn't make sense to her and I also knew it  didn't make any logical sense. The reality is, it had been in my mom's house for the last three years, it's not as if I was using it. But I just wasn't ready for that kind of acceptance. I was still too emotional about it to make a logical, rational decision.  It was the same experience as when I finally donated my closet full of beloved clogs, sandals, high heels and flats. I had held on to them for years. They represented hope for me. Giving them away meant truly accepting I was never going to be able to wear them again.

Last night, I eventually let go of all that I had been holding in all week. I welcomed the tears. I knew that by letting them out, I would free up some of the emotional energy that had been invested in trying to prevent them from coming up and out. When my husband emerged from the bathroom and saw me on the floor crying with my guitar, I could see his pained heart and of course, the next thing he said was that we should just give it back to my mom. Oh how he would do anything to alleviate my pain. But of course, if only it were that simple.  That route-the one of avoidance and disconnection- definitely has its place. But it's more of a way around it rather than through it. When you travel around it, it's still there, you're just trying not to look back at it because it feels too hard. But when you travel through it, you've seen and experienced it in all of its ugliness so that no matter how painful it is or was, there's no longer anything to fear. No question of  what lurks in that deep dark space. You've made it out to the other side, alive.

I see how my kids enjoy having my guitar around, so for now I think I'll keep moving through it. I know that if I stay in it long enough, the intensity will dissipate and it will just be what it is. Another part of my story. Another piece to incorporate into my reality.

When my two beautiful, squeaky clean boys emerged in their jammies back to the living room, I brought them to the computer. I put them on my lap, opened up iTunes and clicked on “Blackbird.” I closed my eyes, held them tightly,  turned it up and felt a wave of peace and fulfillment wash over me, learning once again that sometimes, there’s only one way to get there.

My speech from this year's NDF Gala

Below is the link to the speech I gave as an honoree at this year's NDF Gala at the Beverly Hills Hotel on October 17th, 2013. It was an incredibly successful event, selling out to over 600 guests and raising almost half a million dollars.  Thank you to everyone who helped make it possible.

 http://vimeo.com/79357093

Annual Neuromuscular Disease Foundation Gala. Jennifer's Speech http://vimeo.com/79357093

The Jennifer Room

About a month ago, I received an invitation to attend a "Patient Day" reception hosted by Dr. Emil Kakkis, CEO of Ultragenyx. Ultragenyx is the biotech company that is currently in phase II of a clinical trial for a potential treatment to slow the progression of HIBM.  Dr. Kakkis was throwing a party to celebrate the patients of the various genetic diseases he has helped treat over the years and to honor his incredible staff. He was also going to be dedicating conference rooms named in honor of patients. I was told there was one named after me. I hesitated at first as I am always a bit protective of my emotional reaction when spotlighted in the patient role, but I decided to go for it.

Getting there yesterday was a bit frustrating, between forgetting my driver's license (oops), traversing the long distance across the airport to the gate (still not ready to be pushed in a wheelchair) and battling the bay area traffic once we landed. And of course, driving across the Golden Gate bridge-the same bridge I used to regularly cycle across when training for the AIDS ride. All the while I was questioning whether any of this was a good idea, especially since I left two sick kids at home.

Eventually, we made it the party. And I was definitely not expecting what came next. There were actually no other HIBM patients. The majority of the patients there were teenagers who, with their families, were reuniting 15 years after Dr. Kakkis and his team literally saved their lives with his novel experimental enzyme therapy for their condition, MPS1- a progressive and fatal childhood metabolic disease.  We watched video clips of these patients as children, we watched the segment of the 60 Minutes interview with Dr. Kakkis and the families of those affected, we listened to him memorialize those children whom he could not save and I sat there, moved beyond words, in the company of a couple hundred people who were also in awe of what they saw. Then Dr. Kakkis put up a slide with a picture of me on it. (He had mentioned when I arrived that he would call me up on stage to say a few words (!). And the description he used to introduce me was "physician, patient, mom, speaker, patient advocate and blogger." The first four I could identify with, but advocate and blogger?  It may sound strange, but I've never really considered myself an advocate. Maybe because I still hold onto some guilt about never really jumping at the opportunity to meet another HIBM patient (still learning how to cope with seeing what's ahead of me) or maybe because I'm not actively posting/sharing on the Facebook page the way other patients do or maybe because I'm not on the NDF board nor do I involve myself much with it aside from the gala speech. And then there's blogger label. I guess I associate a blogger with someone who does it more professionally, someone who has paid ads on their site, someone who isn't as technologically challenged as to only be able to use Blogspot, the most remedial blog site around. And so when I got up to speak, I still didn't feel like I was the woman in that slide. And then, when that part was over, they took me upstairs.

Upstairs is where all of the offices and conference rooms are. As they directed me down the hall to the "Jennifer" room- photographer and videographer actively filming by my side-I started to notice that multiple people in their purple Ultragenyx t-shirts identifying them as staff/ team members were gathering around me. I soon learned that they were the specific group of scientists and researchers who were dedicating their days and nights to working on finding a treatment for HIBM. They looked at me with such compassion and kindness. They shook my hands and gave me hugs. I then quickly discovered that for most of them, I was the first HIBM patient they had ever actually met. And then many of them shared with me that they actively read my blog and that I am an inspiration to them and their work. It started to become surreal. There we all were, gathered around this room with my name etched in glass and a plaque of my picture and a description of me on it at the headquarters of a biotech firm in Novato, California. And in that moment, maybe for the first time, I stopped wishing that I had nothing to do with this disease/this conference room/ this trip and started fully accepting and embracing that this is my life and that as scary as it is to let that in, it feels good to know that I can. It feels good to realize that I am doing something bigger than and outside of myself. It was the first time that I started to see the broader implications of what I do. I was standing in front of people who are dedicating their lives to working on this orphan disease and I was sharing myself with them. As I stood in front of them, I told them how incredibly grateful I was for all that they are doing- not so much for me- but for my boys. Not surprisingly, I became emotional (as I always do when I think about HIBM and the impact on my kids), but surprisingly, so did so many of them. I didn't know that you could find the combination of so many brilliant minds and open hearts in one place.

I would be lying if I said I didn't fantasize about returning again in 15 years-just like those MPS patients- watching the video footage of me crying and speaking in front of that conference room yesterday and celebrating the fact that I am still not in a wheelchair- thanking Dr. Kakkis and his team for all they have done for HIBM. I don't fool myself into thinking there's any guarantee that that's going to happen. But I am starting to believe that I have a purpose in this life with this disease. Not in some grandiose or meant-to-be kind of way, just in the way that I can help others understand who we are and what we experience and how desperately we are in need of help. To think that I would have missed out on this experience had I let my vulnerability win...well, it's a reminder of what I always tell my patients: growth and comfort are on opposite ends of the spectrum.

I dedicate this blog post to Dr. Emil Kakkis and all of those miracle workers in their purple shirts at Ultragenyx. You know who you are.

Tired

I'm tired.

I'm over it.

I feel like it's enough already.

I've risen to the challenge, I've tapped into my inner emotional resilience, I've gained invaluable coping tools and I've been given the gift of learning to truly appreciate what I have. 

But now I'm  ready to be done. Ready to be done with this disease.  I'm ready to go back to my old life where I wasn't "amazing" and insightful but rather just a regular person with regular life stresses. I want to remember what it felt like to care about losing 5 pounds to fit into my "incentive jeans" or to be able to watch a sad movie without having it hit me so hard because I relate almost too well to it.

I wasn't planning on blogging tonight, but I received a phone call today from the prosthetist informing me that my new, unbelievably expensive custom- made silicone AFOs have arrived from England and they are ready for me to come try on. I have been fantasizing about these  since I was casted for them a month ago. I have been fantasizing about the world of possibilities they may offer. They are essentially like tight silicone socks that you velcro onto your feet. And they only come up to your ankle. That means there is no hard black carbon fiber riding up the back of your lower leg. That means you can squat down, sit on the floor with your legs crossed, wear them under your socks and shoes and most importantly for me, walk around "barefoot." I realize I'm using the "you" pronoun, probably because I'm so terrified that they won't work for me or be the magical addition to my life that I'm hoping they will be. It doesn't feel safe yet to believe they will do all of these things for me. 

I am trying to be excited, but the excitement is competing with a sense of doom. Because for now, it's just a different kind of brace, but next time it might be an appointment to be fitted  for a cane, then a walker, then a wheelchair, a neck brace, hand controls for the car, railings for the shower and an adjustable bed to help getting up easier... These aren't irrational fears that I have. These are the realities for so many of my fellow HIBM patients. This is what patients post  about on our Facebook support group-questions about who has used what kind of assistance device, who has noticed arthritic pain in their joints, who knows how to get disability benefits from the government and on and on.

The worst part is, I am someone who is regularly forced into this intense, dark emotional space. That's not who I am. At least it's not who I used to be. I miss being able to be my happy, carefree self at times like these. I am still reeling from the joy that was my 20 year high school reunion over the weekend. Seeing so many wonderful old friends. Some of who didn't even know about the direction in which my life had gone. I guess I didn't realize that night how refreshing it was to have my HIBM self be somewhat anonymous. To be lost in my old self, hear memories about her, be reminded of her. I guess I just wish the high from that could have lasted a little bit longer...

Dedicated to the one I love...

Recently my sister told me that someone who saw me speak at the last fundraiser thought I was "amazing." She then told me that this person said my husband was even more amazing. I wondered how he knew that without even knowing or talking to my husband, because of course, it is true. And I thought about it for a while. And in honor of our 10 year wedding anniversary yesterday and Father's Day tomorrow, I wanted to dedicate this blog post to Noah- my amazing husband and tireless father of our two boys.

When I fell in love with Noah, I felt like I had been catapulted into an altered state. As a psychiatrist, I can't really say it was a true mania, but it came close. I was euphoric and giddy and barely slept or ate for a week. I had found my true love. I felt a peace within me I had never known. I wrote in my journal that no matter how hard life was going to get, I knew it was going to be okay as long as he was by my side. I wasn't afraid anymore of anything. And then three years later, life got hard.

Noah was with me the day the neurologist told me I had a progressively debilitating disease for which there was no treatment or cure. He stood there next to me, holding me tightly in his arms as my world, our world, came crashing down. I told him he didn't deserve this, that he didn't sign up for this- all those things partners tell their loved ones when they know their own personal tragedy has become their shared tragedy. And he simply told me that this is what happens in life and it could be so much worse. He sensed that some family members were secretly worried that maybe he wouldn't stick around (because sadly and embarrassingly it's not unheard of in my Persian Jewish culture to run from pain) and he was insulted and offended. He listened to me cry and scream for countless hours, especially in the beginning, and never once tried to make me look on the bright side if I didn't feel like doing so. He held my sorrow so tenderly, for as long as I needed, without trying to hurry me along through it.

And that was just at the beginning. For the past 7 years, Noah has taken on more than he could have ever imagined and not complained once. I mean, not once. He is the one who has to wrangle the boys to get them in the car or chase the little one to get him to put his shoes on or carry all the gear and a kid across the sand when we go to the beach. He is the one who carries them when they're tired, transfers them asleep from the car and scoops them up off the floor when they cry. He is the one to climb up the stairs to go down the water slide with them for the umpteenth time and then come over and assist me getting out of the pool.  He is the one who puts out his arm for me to hold onto every time we walk anywhere.  No  matter how exhausting it may be, he does it, over and over again. But I know it's not just about the physical stuff.

When I sulk about not feeling attractive wearing my braces and sneakers with a dress, he tells me he hated it whenever I wore any kind of heels anyway. When I share my frustration of not being able to be more helpful with the kids or be more outdoorsy with him, he tells me that he could care less about what I can do physically,  just as long as I'm around for forever with him and can continue to be his wife and the mother to our children.  When I told him I desperately wanted another child and it was going to cost tens of thousands of dollars from our savings and not be very simple, he supported me without resistance, even despite the fact that he did not feel the same calling to have a second child since he grew up a perfectly happy only child. When we get into bed at night exhausted and I realize I forgot to take my ManNAc capsules, he is the one who tells me to stay put and then goes into the kitchen to get me a glass of water and my pills. And when one of the boys gets up in the middle of the night and calls out for us, he is the one who gets out of bed to tend to him, no matter how many nights in a row he's done it.

Maybe you think that this is just how any decent human being would act. But I will tell you that Noah is unlike any human being I have ever known. He is the reason I can live in this world in the way that I do. He is the reason I can still feel sexy and confident leaving the house with black carbon fiber rods covering the backs of my lower legs. He is the reason I can stand up in front of hundreds of people and feel safe sharing my story.  He is the one who reminds me that he didn't fall in love with me because I could jog and lift grocery bags. He and the family we have created together are the reason I continue to feel that I would not want anyone else's life but mine. Disease and all. Because when you share a true love with someone else, everything else is secondary. And though saying this isn't what gets people to donate at fundraisers, underneath it all, with Noah by my side, I do feel like everything will somehow be okay. Because so far, he's managed to make me feel like it is.