Yesterday was my 235th infusion of Lumizyme. If you follow these every-other-week posts, you’ll know that Lumizyme is the enzyme replacement therapy (ERT) that I receive as a treatment for the rare disease I live with – Late Onset Pompe Disease.
But yesterday was an exceptional day. It marked the start of my tenth year of ERT. I started receiving Lumizyme infusions in the fall of 2012 after finally receiving a correct diagnosis of Pompe Disease earlier that spring. For the preceding 26 years – since I was 23 – I had lived with the false diagnosis of Muscular Dystrophy. Not knowing that I had Pompe Disease or knowing that a treatment had been developed, my condition had continued to deteriorate. Slowly, over those many years, I lost my ability to walk … to stand … and to breathe. Pompe Disease was gradually claiming all of my core strengths. Eighteen years ago, I transitioned to a wheelchair. And about seven years ago, it became necessary to use a ventilator 24/7 to assist my breathing after my diaphragm strength finally gave out.
Lumizyme saved my life. Lumizyme bought me all of these years of life since 2012. What I didn’t know when I started those treatments in 2012 … because this was a new drug and it just wasn’t known … was that Pompe patients can eventually plateau on the beneficial effects of the drug. That happened for me about two years ago. Lumizyme still works for me … but not like it did the first seven years. Very gradually, the onset of muscle weakness that had defined the first 49 years of my life began to return. Because I’m in a wheelchair and on ventilator support, I noticed it first in my arms. I wasn’t able to reach as high … it took more effort to grip and lift things … and my range of motion was getting more and more limited.
I opened conversations with my Pompe specialist back then. To make a long story short, that process led me to find another Pompe specialist last fall. Since then, we’ve been preparing for a change. Over the course of this past year, I’ve had new baseline studies done for all of my vital functions … all in anticipation of a forthcoming new medication ultimately intended to replace Lumizyme as the standard of care of Pompe Disease. The new drug, initially called Neo-GAA, was officially approved by the FDA in August and is now called Nexviazyme.
The preparations we’ve made over this past year have positioned me to be one of the first longtime users of Lumizyme to transition to Nexviazyme. Late yesterday, I received confirmation that my first Nexviazyme infusion will take place on October 18th. All approvals have been secured and my orders are being written today.
So … yesterday …
Yesterday was the start of my tenth year of enzyme replacement therapy. And yesterday was my final Lumizyme infusion. Two weeks from yesterday, I will be one of the first longtime users to step into this new world.
There are many unknowns ahead. All of the Pompe patients in the clinical trials for Nexviazyme had never received ERT. And none of those Pompe patients had as advanced symptoms as mine; they were all ambulatory (not wheelchair users) and were not ventilator dependent. At this point in time, there is no data as to how advanced Pompe patients … or those who have been receiving Lumizyme … will respond to this new drug. According to my doctors and the folks at Sanofi-Genzyme (the company that produces Lumizyme and Nexviazyme), I’m going to be their test case.
Over these past nine years, I’ve been enlisted as a patient speaker for Sanofi-Genzyme as well as for a company called Astellas (formerly Audentes) that is working on yet another treatment for Pompe Disease – gene therapy. So education has been part of my journey with this rare disease. Since this next phase of my story is going to be as somewhat of a pioneer, I’ve established a blog to track my progress. My hope is that other Pompe Disease Warriors will benefit from the information I can share. This bizarre road of living with a rare neuromuscular disease has garnered support from untold scores of family, friends, loved ones, comrades, medical professionals, home care workers, and perfect strangers … all of whom have played a part in this story; I’m hoping the blog will also serve as a tribute to everyone who has helped me along the way. Honestly, I wouldn’t be here today without your love and support. I’m forever grateful.
My Pompe Disease blog will be a branch on the new website I’ve created to support my long-running radio program, Harmony Ridge. There, you will find bio information, history about my association with Community Radio KVMR-FM, in Nevada City, California, links to Harmony Ridge playlists, and a growing compendium of information about Late Onset Pompe Disease.
Thanks for joining me …