What it's like to live with a progressive neuromuscular disease

Monday, October 13, 2014

Reflections from an airport. (Be forewarned, there are a lot of them)

Sometimes I like to wait until I’ve more fully processed my thoughts and feelings about something before writing a blog post. And other times, I blog about something to more fully understand how I feel and where I stand on something. This is one of those times.

Yesterday I spent an entire day from 9am to 6:30pm sitting in a small lecture hall (which appeared to have been cryogenically frozen since 1979) at Beuth Hochschelu für Technik Berlin aka the University of Applied Sciences. I was there for the GNE Myopathy (the new name for HIBM) Consortium. Virtually every scientist/researcher who is working directly on HIBM or indirectly on neuromuscular diseases, gene therapies or metabolic treatments was there.

The very first year that HIBM scientists came together (at that time it was on behalf of the NDF), there were about 8 scientists sitting around a conference table. That was 6 years ago. Since then, the consortium has evolved into an independently organized event. Yesterday, I walked into a lecture hall with over 35 scientists from around the world- Japan, Israel, France, Germany, the UK and the US (including the NIH, Ultragenyx and UCLA). Everyone there to share their research and exchange ideas for this little known orphan disease that I have. As you can imagine, it was overwhelming. In a good way. All the authors of every recent paper on HIBM were there, within feet of me. It was quite exhilarating in fact. There was also one other special guest present whom I’ll get to.

I sat down, took a moment to take it all in and then got out some paper and a pen. I was immediately catapulted back in time to medical school. The lectures began and I started taking notes. I often, in the context of this disease, have a lot of “meant to be moments.” I imagine we all do, as one of our many coping tools. For example, the fact that I had been working out since I was 14 years old was “meant to be,” since it put my body in the best possible shape before beginning it’s premature decline (sorry, just keeping it real). Or the fact that I became a psychiatrist was “meant to be,” as it requires very little physical effort of my behalf. I’ll spare you more examples, but suffice it to say, I had many of those moments yesterday as I followed along the metabolic pathway slides or the discussions on slow and fast twitch muscle fibers.

But as the day wore on, my enthusiasm and vigor started to wane. I became impatient, especially when a presentation or group discussion would end with something along the lines of, “there’s still so much we don’t know” or “we haven’t been able to manufacture that one essential ingredient that’s needed to move the work in our lab forward.” I was hyperaware of the fact that all the talk was taking place on a molecular level and so I started to speak up. I wanted (demanded?) to hear more about the clinically relevant applications of the collective research. I wanted to bring attention to the fact that all of the potential treatments being presented were ultimately in the service of slowing progression, not necessarily of regaining strength (a fantasy I’ve never let myself indulge in anyway). When I asked about some alternative treatments (believe or not, human breast milk is rich in sialic acid) it was given a minute’s thought and then essentially dismissed. I did not get emotional, for I recognized the importance of walking the line between level-headed physician and desperate patient. And the truth is, I didn’t feel emotional. I wasn’t suppressing any tears (not my forte anyway). I felt empowered. I felt strong.

Here’s the part that felt the hardest. When the day started and we were all taking our seats, I sat on the top row, closest to the door and looked down and saw this lovely Japanese woman sitting in an electric wheelchair on the ground floor. Yuriko. I knew who she was the minute I saw her. Though we’d never met, I recognized her from my sister’s photos from last year’s consortium. Yuriko had flown all the way from Japan to San Francisco with her husband last year and to Berlin this year. I went right down the stairs to introduce myself. Of course, she couldn’t lift her arm to shake my hand, but I took her hand in mine and held it as tightly as I could. (As someone who has always prided herself on giving firm handshakes, weak hands are one of my least favorite parts of this disease.) I then “ran” back up to my seat to focus on the science.

But throughout the day, I couldn’t help but be distracted. I watched how her husband removed her scarf for her when she got warm. I observed how he brought a glass of water to her lips when she was thirsty. And I also saw how she spent the entire day smiling the kindest, most gracious smile. I watched as her husband went around and distributed a not-so-small wrapped gift of boxed chocolates to every singe scientist sitting there on behalf of the GNE myopathy patient advocacy group in Japan of which Yuriko is the Vice President. I looked at her and wondered how she looked so beautiful, so neatly dressed with her hair perfectly tied up in a pony tail. I wondered how much time went into her simple act of getting dressed.

After the conference, there was a dinner for everyone. (If there’s one thing I’ve learned on this trip, it’s that scientists like to eat and drink. And then drink some more.) I went to sit at Yuriko’s table for a bit to chat as best we could given the language barrier. We enjoyed each other. We shared our experiences as mothers, as wives and as patients. But when the food arrived, I chose to go back to my seat, because I wasn’t ready to watch her husband cut up her veal schnitzel for her and then feed it to her. I may be strong. But not that strong.

I am now about to board the plane home.

I didn’t travel to Berlin with the expectation of hearing overwhelmingly positive, game-changing news, though no doubt that’s always the fantasy, especially for members of my family who worry about me the most. (You know who you are.) I decided early on in this disease that I was going to invest most of my energy in learning how to best cope with what I have rather than focusing on what may or may not help me to not have what I have. In no way does that prohibit me from doing everything within my power to preserve my strength and stay on top of the latest research. It simply allows me to have a very honest and accurate assessment of my reality in this disease and to not ride the twists and turns of the emotional roller coaster unnecessarily.

I share this next part especially for the patients who are reading: I am coming home confident that the NIH will get ManNAc approved through the FDA as will Ultragenyx with Sialic Acid. Both therapies appear to be effective treatments for slowing progression.

If you’re still reading this you may be amazed to learn that I still have so much to share (!) mostly about being in a wheelchair for the first time- at times painful, at times comical but at all times fascinating.

Okay then, see you at home.

Saturday, October 11, 2014


I am in Berlin. Yes, Berlin, Germany. If you read my last post, then I know you already know this. But I’m still taking it in. And though I have carved out this specific time in front of my laptop for gala speech-writing, I can’t seem to focus on it. So instead (and since this is why I started blogging in the first place), I’m going write about the space I’m in right now.

Aside from traveling to Mexico here and there,  I have not been out of the country for over 11 years. For a variety of reasons: kids, work, cost. Reality in general.  I have always felt so incredibly blessed and fortunate to have done the kind of international traveling that I did in my 20s. When this last minute opportunity to come to Berlin to meet the scientists arose, though my heart and my mind knew I wasn’t going to say no, my body was terrified. How will I handle the flight? I have never travelled for so long in my “new” body. My muscles have a hard enough time sleeping comfortably and waking up feeling rested at home, how will they feel after 10.5 hours on an overnight flight and then a layover and then another two hours? And how will I cope with the fatigue? And not exercising? Or potentially not eating properly? I don’t get to indulge in that kind of carelessness or recklessness anymore.  I knew it would mean having to go out of my comfort zone, and not just physically. Having to beg for an upgrade on the flight (didn’t happen, but did manage a row of 3 seats to myself). Having to use a wheelchair for the very first time the minute I stepped off the plane in the airport (did happen, but will have to dedicate a separate blog post to that). Having to allow my sister to wheel me around Heathrow airport for two hours (that airport’s a beast so I eventually surrendered to it). Having to invest the effort in trying to get a massage while here (also probably worthy of a more amusing post one day).

So after doing the cost/benefit analysis, the benefits were far too great- a chance to travel, to immerse myself in another culture, even for just a few days, to hear a foreign language, to see a different season of fall, to sit and observe people. It’s truly a thrill. A delight for the senses. So when my sister said this morning that she was going to sit in the lobby (better wifi) all day and get work done in preparation for the meetings tomorrow, I had to make a choice. I could play it safe and stay close to my human cane (who’s taken impeccable care of me and my body while here) or I could do what would come so naturally to my old self- set out to explore. Since I just don’t know how to do it any other way,  I chose the latter. So I took a taxi to Hackescher Markt- a hip area with boutiques and cafe-lined streets.

I stepped out of the taxi and took in a deep breath of independence, empowerment and true inner peace. I felt so proud of myself. And then I started walking. Cobblestone sidewalks. Not the easiest to navigate when balance is already an issue. And then I started going into stores. Every single store had either a one or two step walk-up to enter the store. And no railings of course.  But in those moments, I don’t let myself think. I just do. I also don’t like to miss out, so of course I walked in and out of practically every store. I almost fell a few times. I thought because I was so anonymous in this city, I wouldn’t care. I did. Throngs of people kept passing me by. I could feel people being annoyed behind me or confused once they passed me, glancing back to see what my deal was. But I kept going. Because I will always keep going.

The whole time I was acutely aware not only of how hard it is for me engage in the simple act of walking around a new city, but of how limited my time of being able to “walk” any new city actually is.  This is not me being catastrophic or pessimistic. This is just me being honest with you and with myself. I won’t be able to keep this up for much longer. I’m not saying I won’t travel to new cities again. I’m saying I won’t get to do it this way for much longer. No matter how much will I have, no matter how much spirit and motivation I have to do it, I’m up against something so non-negotiable. I stepped out of  that taxi and felt such an overwhelming sense of gratitude and joy. In truly the most authentic way. I felt how lucky I was. To be able to be here. To do this. And then with every step I took, how unfair it was that I am trapped in this body. That I am constantly having to talk myself down, coach myself through. There’s an art to it that I am continuing to try to master: a delicate balance between wading in the feelings without being drowned by them.

Today I had a lovely day of slowly walking around, doing some shopping, stopping for lunch and slowly walking some more. I didn’t make the decision of what to do today based on fear or on wanting to minimize my emotional discomfort. I made the decision of how to spend my day based on what made the most rational, logical sense. And when I’m in a new city for the first time, it makes sense to go out and be in it. There may be some tears involved when sitting here processing it, but the benefits continue to outweigh the costs.


Tomorrow we will get down to business, so stay tuned…





Wednesday, October 8, 2014

Hank and Me

Never in my life did I think I’d find myself hanging out with Hank. He was simply not my type. I saw no reason to ever have to get close to someone like him. We just didn’t have a connection.

A couple of years ago, it seemed that everywhere I went, I saw Hank. I rebuffed his advances at first, but he kept pursuing me. Usually, that kind of perseverance is a turn on, but not this time. Personally, I didn’t find him very attractive and I felt like he’d never be able to keep up with my fast-paced life. If anything, he would interfere with it. Plus, he’s just kind of annoying. He requires a lot of attention, always needing to hold hands, always fearful of getting left behind somewhere. Not to mention, he’s totally socially awkward. He doesn’t know what to say when he walks into a room of new people. He’s only ever come out with me a few times, but he’s always so self-conscious. I try to tell him he has nothing to be embarrassed or ashamed of, but he’s still quite shy.

I have a love/hate relationship with Hank. But since he doesn’t seem to be going away anytime soon, I’m trying to remind myself of his positive attributes. He was helpful when I brought him along to get a pedicure the other day (always a challenge trying to navigate that process in my HIBM body), so that was kind of nice. He let me wear my somewhat impractical sandals on a date with him and that felt fun. And though my kids don’t really like having him around, together Hank and I like to pretend we’re in a Broadway show, à la “A Chorus Line” and perform for them with a little song and dance. We still need to get our top hats though.

Tonight, Hank will accompany me on a special journey. As some of you may know, I am leaving for a fairly spontaneous trip to Berlin, where HIBM scientists and researchers from around the world will be gathering at a conference. I want the folks there to meet him, I want them to see how gracious I am to allow Hank to be a part of my life. I want them to know that although Hank and I are becoming friends, I’m certainly not willing to befriend anyone else in his family. I want them to see that I’m being patient with Hank for now, but that my patience (and sense of humor) is certainly going to grow thin, very quickly.

So, without further ado, allow me to formally introduce you to Hank:



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Neuromuscular Disease Foundation

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