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

Sunday, September 29, 2013

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.

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

Neuromuscular Disease Foundation

About me