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.

Please visit the NDF website for more information about HIBM and how you can help fund a cure

Neuromuscular Disease Foundation

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