Tests, Results, Adjustments and Lessons in Self-Advocacy

Good Day, Friends

Much has happened in the past month.

I’ve held off on posting an update because I’ve been waiting to see how things resolved. I make this blog post today in a very encouraged state. Things are going decidedly well.

First, let’s discuss my visit to the University of California Davis Medical Center (UCDMC) on 3 March 2022.

My Pompe specialist had made arrangements for me to visit the department of Physical Medicine & Rehabilitation (PM&R) to get comprehensive muscle strength tests and pulmonary function tests (PFTs). The intention was to get solid new baseline measurements for body strength and respiratory strength as I was starting Nexviazyme, the new enzyme replacement therapy I began receiving on 15 November 2021.

As a bit of background, I established a relationship with my first Pompe Disease specialist, Dr. Jay Han, at PM&R in 2012 right after my diagnosis. I had an exceptional relationship with Jay. He had a way of explaining very complex medical processes in terms that anyone could understand. More than that, though, he had a very positive outlook on life and a great sense of humor. He was treating eight or nine other Pompe patients at UCDMC but took great interest in my case. I signed on to some of his research studies and we worked very closely together. We got along wonderfully. I became a patient speaker for Sanofi-Genzyme (then, just Genzyme) and Jay and I took our show on the road. We would do co-presentations to physicians just learning about Pompe Disease; Jay would give the medical/technical details and then I’d talk about how those medical implications played out over the long life of a Pompe patient.

A few years later, Jay got an offer for a great job in Southern California and, disappointedly, I bade him farewell.

Another physician took Jay’s place at PM&R. Jay was a tough act to follow but I made the best of things. His replacement (whose name I won’t share here) was only basically familiar with Pompe Disease but, by that point, largely as a result of my collaborative projects with Jay Han, I had become somewhat of a patient expert on Pompe. I’ve always taken a very hands-on approach in my own medical care and am quite comfortable leading medical experts in my care. This was very much the dynamic I established with Jay Han’s successor at PM&R.

Around the time of my seventh year of Lumizyme infusions, I recognized that the stability I’d been experiencing since starting that enzyme replacement therapy in 2012, my muscle weakness was slowly creeping back in. I was seeing my Pompe specialist every six months and immediately brought to her my concerns that I was getting weaker again. Initially, she seemed to share my concern and agreed to investigate things further. But she never did.

Over the next year and a half, as my returning muscle weakness became increasingly more pronounced, I became more alarmed and more emphatic with my doctor to investigate remedies. While she continued to assure me that she would help explore adjustments, she did absolutely nothing. My repeated attempts to reach her by phone and through the UCDMC online portal went unanswered.

In the meantime, I began to educate myself. I maintain a fairly robust network of fellow Pompe patients around the world. As I’ve mentioned elsewhere, we Pompe Folk feel a great kindred spirit. Most of us keep ourselves very well informed on Pompe Disease and readily share information through a variety on online platforms. I learned from Pompe friends that it is not uncommon for people who have been receiving Lumizyme for six, seven, eight years (so-called “long haulers”), to eventually begin to plateau on the beneficial results of that treatment. This discovery led me to reach out to Dr. Priya Kishnani at Duke University, arguably the leading most authority on Pompe Disease in the world and certainly in the U.S.

Dr. Kishnani responded to my inquiry immediately and confirmed what I had heard from my Pompe network – that longtime Lumizyme recipients often can plateau on that drug. Dr. Kishnani informed me that there are a variety of approaches that can address this plateau effect, mostly involving increases in the amount or frequency of Lumizyme infusions. Dr. Kishnani’s staff generously provided me with their recently published medical reports documenting the plateau effect and outlining effective adjustments to respond to concerns over returning muscle weakness.

I promptly wrote to my Pompe specialist at UCDMC PM&R and sent her the medical report I had received from Dr. Kishnani’s staff. Much to my surprise, I heard right back from my doctor assuring me that she would read the report over the weekend and get back to me. Then, not so surprisingly, I heard nothing. Again, I made numerous attempts to reach my doctor by phone, email, and through the online portal. Nothing.

I’d had enough. I reached out to my representatives at Sanofi-Genzyme. I had already expressed my concerns to them. They confirmed their familiarity with patients who plateaued on Lumizyme. I reported to them my ongoing repeated efforts to get some movement from my Pompe specialist and her absolute unwillingness to address my concerns. My reps at Sanofi-Genzyme agreed to advocate for me. After getting no responses from my Pompe specialist, my reps agreed to help me find a more engaged physician. In fairly short order, they got back to me and connected me with Dr. Madelena Martin in the genetics department at UCDMC – The MIND Institute – and her exceptional Genetic Counselor assistant, Ayaka Suzuki. Dr. Martin and Ayaka became my Pompe specialists, and I effectively severed my former doctor from my care.

In my first couple of visits with Dr. Martin and Ayaka, we charted a course for the transition from Lumizyme to what we now know as Nexviazyme, as soon as the new drug received FDA approval. As I’ve documented elsewhere in my postings, Nexviazyme was ultimately approved by the FDA in August 2021, and I received my first infusion on 15 November 2021.

Because the doctors at the department of PM&R are better versed in prescribing durable medical equipment (e.g., wheelchairs, shower & commode benches, transfer devices, etc.), Dr. Martin recommended that I maintain a relationship with my former Pompe specialist at PM&R. While I wasn’t thrilled with the notion, I agreed to follow Dr. Martin’s recommendation. I reasoned that, if the PM&R doctor remained unresponsive, I’d have an effective advocate within the structure of UCDMC (i.e., Dr. Martin) to intervene.

I continued to meet periodically with the doctor at PM&R, specifically to address my medical equipment needs.

Now, fast forward to 3 March 2022. Dr. Martin and Ayaka had reached out to my former Pompe specialist in PM&R and had made arrangements for me to get comprehensive muscle testing and pulmonary function tests on March 3rd. With their assurance that we’d get these new baseline measures to inform my responses to Nexviazyme, I made the hourlong drive from Grass Valley to Sacramento for my first in-person visit at UCDMC in almost two years (due to Covid). I was also slated to get updated blood panels and Hex4 urine tests that day, which I completed before reporting for my appointment at PM&R.

When I arrived at my appointment, I told the intake nurse that I was scheduled to get the strength tests and PFTs done that day … and that I also needed them to record my body weight to confirm that the dosage of Nexviazyme that I was receiving was accurate. I was stunned to learn from the intake nurse that both of the two specialists who were to conduct the tests that brought me all the way down to Sacramento – in the midst of Covid – were on scheduled vacations and that I’d be unable to get the tests completed. The nurse also told me that the doctor was running late and that I’d have a bit of a wait. This doctor, who had been stonewalling me for over two years while my condition continued to worsen, had assured my new Pompe specialist that my tests would be completed on this day, and hadn’t even checked to confirm that the people who would perform those tests would even be there. Suffice it to say that I was furious and disgusted.

I told the intake nurse that I’d like to have my weight taken and that I’d be leaving. I told her that I had no interest in meeting with the PM&R doctor. The nurse told me that she’d report to the doctor and get right back to me.

Miraculously, the PM&R doctor rushed into the room within minutes and assured me that “we’d get those tests done today … for sure.” Pathetically, she had the intake nurse conduct my pulmonary function tests, something she had never done before. I then learned that someone had recalibrated all of their equipment and the results of the tests were unreliable. Then, she had their Traumatic Brain Injury specialist conduct my strength tests. The TBI specialist was a very kind person but admitted to me that she had never performed strength tests. So, basically, the results of these tests that the PM&R doctor had hurriedly cobbled together, were unreliable. I wanted nothing more than to get out of there.

Before I left, I asked if they could please capture my body weight, a process that requires hoisting me into a lift equipped with a scale. I’m unable to stand so I can’t just step onto a scale. Historically, we’ve known the exact weight of my wheelchair so I could alternatively drive onto their large scale, and we could subtract the known weight of my wheelchair. But in the two years since my last in-person visit to PM&R, I got a new wheelchair, and we didn’t yet have the tare weight. So, they deployed two medical assistants to get me into the lift. They helped me into their harness and began to lift me out of my chair. As soon as I had cleared the seat of my wheelchair, their lift froze. The assistants left me hanging, partially suspended, in the hallway and went to find someone to help. Some ten minutes later, a nurse returned and inspected the lift. She told me that the lift hadn’t been charged and that they wouldn’t be able to record my weight. She was able to lower the harness back into my wheelchair and I was able to escape.

As I was pulling away, the nurse instructed me to stop at the reception desk to schedule my next appointment in six months. I dashed out the door, past the reception desk, and swore to myself that I would never … ever … subject myself to another appointment with that PM&R doctor.

When I returned home, I emailed Dr. Martin and Ayaka and reported that their efforts to arrange those two crucial tests were in vain. I reported that the PM&R crew was also unable to capture my body weight and that this entire trip was a fiasco and a complete waste of time. I was able to report that I’d successfully gotten my blood panel and Hex4 urine test. Finally, I reported that I refused to ever see that doctor again. I had already terminated her as my Pompe specialist and was now terminating her as my physical medicine specialist. I asked that, if Dr. Martin wished me to maintain a relationship with PM&R, I wanted a referral to another doctor.

I’m happy to report that Dr. Martin and Ayaka have since established a relationship with a new doctor in PM&R and I’ll have my first appointment with her on 28 April. During that visit, we will officially conduct the two studies that were supposedly done on 3 March.

Meanwhile, the results of the blood panel and Hex4 urine tests that I had done on March 3rd have come back. And the reports confirm what my body already knows … that Nexviazyme is working much better than Lumizyme!

  • The blood test was to measure IgG for Nexviazyme. This is an antibody test. When a foreign substance is introduced, our bodies are adapted to identify and resist potentially harmful elements. Our bodies will develop an antibiotic response. The IgG test measured if my body was having an antibiotic reaction to Nexviazyme. If the test determined that I was having a mild reaction, this would be expected and would not be of concern. If the test determined that I was having a serious antibiotic reaction to the new drug, this wouldn’t necessarily have been of concern, however, it would suggest that my body was not fully assimilating the beneficial results of Nexviazyme. The IgG antibiotic test for Nexviazyme came back negative. My body is not presenting any measurable resistance to the new medication! This means that I’m fully assimilating the new treatment!
  • The Hex4 urine test measures the degree to which our bodies are clearing glycogen. Pompe Disease is also known as Glycogen Storage Disease Type II. This disease is the result of an enzyme deficiency (an enzyme called Acid Alfa Glucosidase [a.k.a. “GAA”]). The GAA enzyme plays a key role in converting glycogen – a natural sugar, ingested from the foods we eat – to glucose, the form of sugar our body uses to build muscle and create energy. Without adequate quantities of the GAA enzyme, our bodies accumulate toxic levels of unconverted glycogen. The result is permanent muscle cell damage, muscle weakness, and fatigue. Over time, if not treated, this can result in permanent muscle loss and death. The Hex4 urine test measures the degree to which our bodies are expelling glycogen in our urine. There isn’t a set standard for a healthy measurement of expelled glycogen in urine. The test has to be taken periodically and compared, over time, to other measurements. I had a Hex4 urine test right before I received my first Nexviazyme infusion in November. On March 3rd, after three months of Nexviazyme infusions, my Hex4 urine test indicated that my body is expelling a considerably higher volume of glycogen! More glycogen out means less glycogen being stored in my muscle tissue and less potential for further damage!

The results of these two tests support what I have already been feeling in my body. As reported in earlier entries, I’ve noticed a slight improvement in my breathing strength. Again, I’m ventilator dependent 24/7. This is the result of progressive serious muscle wasting in my diaphragm. My lungs are relatively healthy. But because my diaphragm muscles have become so compromised, they’re just not strong enough to pump my lungs. But in the normal course of my daily routines, there are times when I have to remove my ventilator for dressing, showering, etc. Around the time of my sixth Nexviazyme infusion, I noticed that, when I had my ventilator off, I was able to breathe more easily and was less panicked to get back on air support. Since that time, I haven’t noticed additional improvement, but I have noticed that the gains I experienced around Nexviazyme Infusion #6 have been sustained.

I’ve also noticed both improved energy immediately following my infusions as well as better energy and stamina in the days following my infusions. My mental acuity feels improved, I have better sustained energy through the day, and I’m sleeping better.

My verbal reports to Dr. Martin combined with the positive results of the recent blood and urine tests, as well as my tolerance of Nexviazyme with no adverse fluctuations in my vital signs during infusions (i.e., blood pressure, body temperature, and oxygen levels), have caused Dr. Martin to prescribe an adjustment in my infusion rates.

Today is Nexviazyme Infusion #11. And as of today, my infusion rates have been adjusted to the following protocol.

  • 50 mL/hr x 15 minutes
  • 100 mL/hr x 15 minutes
  • 175 mL/hr x 15 minutes
  • 225 mL/hr for remainder 

This infusion rate increase is expected to reduce my overall infusion time by about 30 minutes and represents rates well beyond those we used for my Lumizyme infusions. As I complete this lengthy entry, I’m about 2/3 through my infusion with no signs of complications.

And so, to tie a bow on this report for today …

We, the Warriors of the Pompe Tribe, are living with a rare disease that is still relatively unknown, even among the medical community. It is incumbent upon each of us to learn how to manage our disease because, at least at this time, we can’t really expect our physicians to fully understand Pompe Disease or our unique experiences living with it. We deserve the best care available. To ensure that we receive that care, we must insist on having competent, well-informed, fully engaged, and collaborative professionals on our team. The failure of any member of our team to meet these standards can have potentially grave consequences and that person needs to be replaced by someone who does. I’ve been fortunate to work with an exemplary crew of experts who have kept me healthy and alive. It’s been very rare for someone not to live up to the standards we deserve … but there have been a few. This past month, I’ve had to release from my team a person who has twice let me down. I feel empowered having taken charge of this situation.

And finally, Nexviazyme is working much better for me than Lumizyme was after nine years using the latter treatment. I feel the improvements in my body and I’m seeing the improvements in my lab results.

If you’re a patient living with Pompe Disease, ask your specialist if Nexviazyme could be a good choice for you. Thus far, it clearly is for me!

Thanks for following along!

In Spirit,


4 thoughts on “Tests, Results, Adjustments and Lessons in Self-Advocacy

  1. I think I already said ‘holy moly’ to you once today, but this post deserves a ‘wholey lot more moleys’ ! I have seen you frustrated in meetings, heard the change in your tone and measured words, but I cannot imagine how you could contain your anger on March 3rd ! That drive home must have had you chanting all kinds of phrases. I completely agree that we must be our own advocates in the medical arena. This has definitely been my experience. Hope Flows!

    Liked by 1 person

    • Honestly, Dawn, by the time I got out to my car after that appointment, the last straw had been broken. I was resolved that that was the last time I would ever have my wellbeing decided by that doctor. At some level, the anxiety and tension of the prior couple of years was released.


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