Infusion Day 1.0

8:10am (PST) – 15 November 2021

I’ll be leaving for the infusion center in about 45 minutes.

And as I sit in the quiet of my office, I can’t help but reflect on the path that has brought me to this place … this moment.

I was diagnosed with Pompe Disease in May 2012 after living 26 years believing I had Muscular Dystrophy. That discovery opened the door to a treatment that could stop this progressive condition from worsening. I received my first Lumizyme infusion that September.

I remember the enormity of that September day. I recall feeling like my dreams had come true. I had literally woken up one day to learn that I no longer had MD. I had something else – something called Pompe Disease – but this was treatable. I sat in that infusion center and received my first Lumizyme infusion and felt, like I do today, that things were about to change … that I was given a second lease on this life that I cherish so deeply.

Every two weeks for the past nine years, I’ve returned to an infusion center to receive an enzyme replacement. And these Lumizyme infusions have lived up to their promise. They saved my life from the rapid decline I was experiencing in 2012. I’m here today, writing this entry, because of Lumizyme. These treatments stabilized my condition and gave me a decade of life I otherwise would not have had.

A little over two years ago, though, that stability began to falter. The progressive weakness that had been an everyday part of my life leading up to 2012 started to return. Very slowly over a series of months, I wasn’t able to reach as high as I had been. My grip strength was failing, and I began to drop things more.

I promptly reported these experiences to my Pompe specialist. I came to learn that it was not uncommon for Pompe patients who had been receiving Lumizyme for many years – so-called long-haulers – were increasingly reporting a plateauing effect. The stability they (no, we) had been experiencing began to fade and the muscle weakness began to creep back in.

I learned that many Pompe patients responded to that plateauing effect by increasing their Lumizyme dosage. Some began to infuse weekly; some began to receive double doses. Despite my urgent pleading, my Pompe specialist wouldn’t consider making those changes for me. As I’ve had to do at several junctions in my life, I took it on myself to pursue some changes. I contacted the leading Pompe specialists at Duke University and consulted with them. They provided me with the latest published papers on this plateauing effect and how to adjust dosages to address the problem. I provided these studies to my Pompe specialist – to no avail. She continued to delay.

About a year ago, I found a new specialist. And for the past year, we have compiled all new baseline measures in anticipation of the release and approval of a new enzyme replacement therapy. Originally called Neo-GAA in clinical trials, that new drug was approved three months ago and given the name Nexviazyme. A month after Nexviazyme received FDA approval, I met with my new Pompe specialist, and she approved me to transition from Lumizyme over to this new drug.

These past couple of months have involved a lot of medical bureaucracy … approval of the new drug by my hospital … insurance approvals … billing approvals … and volumes of paperwork to complete each of those steps. My first Nexviazyme infusion was originally scheduled for October 18th. That was delayed to November 1st. And that, in turn, was delayed to today – November 15th. This past Thursday, in the final hour before my hospital had to order my medication for today, the final approvals came through and opened to door to today’s Nexviazyme infusion.

In the next couple of hours, I’ll begin that infusion. Today will be my 238th enzyme replacement therapy. Today will be my first Nexviazyme infusion. I’m confident all will go well today. Even so, I can’t ignore the enormity of this moment. Everything is riding on the success of this new treatment. It’s not an overstatement to say that today marks the threshold of the rest of my life.

Time to sign off. Time to leave for the infusion center. My next entry will be from there … with an IV in my arm … and a bag of Nexviazyme hanging from a post next to me.

Off I go!

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