Life As an MPS 1 Adult: Enzyme Replacement Therapy

I was 16 years old when I was first asked to participate in a clinical research trial –– the second study of its kind –– for an up and coming therapy method called Enzyme Replacement Therapy (ERT), of a drug now named Aldurizyme (Al-dur-is-ime).  The first research trial was a few years earlier, and threw MPS into the spotlight by way of a news story titled "Saving Ryan" on CBS's 60 Minutes. I agreed to participate without hesitation.  At the time there were three research locations to choose from; Vancouver BC, New York City, and South Carolina (or was it North?).  Despite my desire to choose New York City, I chose Vancouver BC because it made more sense given that I would be flying every week for study treatments and tests.  I had to wait nine torturous months for the study to begin, something quite difficult to ask a kid with an expectation that this was going to be a cure of all of his problems.

What is it?

It was explained that this new ERT treatment entailed growing the enzyme that my body is missing through a growth medium –– which happens to be E coli –– and slowly delivering the new "artificial" enzyme via IV. It was believed that the artificial–enzyme would go about its natural process as it made its way through the body, reversing some of the buildup collected over the years, except in the cornea's and brain, where delivery is just to narrow. Side effects could have ranged from mild nausea all the way to a severe swelling of the tongue and throat, resulting in suffocation. The study was a double-blind study, meaning nobody knew who was getting the placebo or the real thing.

So it begins!

I knew from the beginning that I was getting the placebo; nothing was happening, I mean absolutely nothing. Except for a real bad case of connect the pimple marks on my face, or how many purple bruises on my hands I would get from the IV nurses –– I hated needles, still do. They still to this day will not confirm or deny anything; thank you international bureaucracy. Once the initial double-blind was over, the drug was opened up to everyone, and the visible reaction was quite substantial. I grew 3 inches within the first three weeks, I was sore all the time, and I continually felt a "fidgety" feeling in my knees for the first few months while the infusions were running. The acne immediately got worse and became cystic infections, not a good look for a teenager wanting positive attention from girls. Some doctors believe that this was a result of a lowered immune system resulting in a sort of bacterial infection in my acne that my body was having trouble fighting off. Others say it is the stabilizing agent used to keep the enzyme "alive" while it's in the bag. Either way, I still get them from time to time in the same spots, it's annoying and somewhat painful.

At that time I was flying out from Portland to Vancouver immediately after school Wednesday nights, getting the infusions Thursday from eight to two, catching a four or five o'clock flight, and was back in school by Friday every week for about six to nine months –– on my own mind you. This got interesting after 9/11 when I tried to get into the country without any ID, but I'm saving that for the book!. So if the infusion process wasn't enough to tire me out, this routine probably helped.

The "insta-growth" quickly plateaued, the fidgety feeling and mild joint discomfort no longer prevented me from sleeping during the infusions. Sometimes I would arrive at eight to take my pre-meds, and would be out cold until it was time to leave and the IV was already taken out. On those days, it was like I was on autopilot. I knew what I was doing, I knew where I was, but from the hospital until the next day, it was like a muffled dream. In those moments that I was not being asked a question, or holding a conversation, there was complete silence in my mind; I could stare out the window and literally be nowhere.

That's the way it's been ever since.

I eventually started getting my infusions locally after the drug became FDA approved, but recovery times still took about a day or two. It was well after high school that I realized that if I actively prevented myself from taking a nap after infusions and kept my mind and body doing something, I would be less likely to feel like a "drone", not an easy task, but nothing Red Bull can't help. I have made comments to my infusion nurses before how I can feel my blood running through my body, almost like sludge, after my infusions because it feels so thick, sometimes making my hands and feet a little cold to the touch. A feeling that goes away after a good nights sleep, but it's still difficult to get out of bed the next morning.

The Results

For me, the ERT has delivered on its promise, but in no way has been a cure that my teenage mind had hoped for. When I started treatments the damage had already been done, and my course had already been set. Had I started it at the age of six or even the age of three when my symptoms first started to appear, things may have been greatly different. But in some way those of us that participated in this study, brought forth data that could give a fighting chance for those who can start their ERT as babies. It will at least help them to possibly prevent a good amount of the damage caused by MPS from the outset before it starts to. I am thankful for that, and enjoyed my time as a guinea pig, and being an independent teenager who traveled internationally on his own.


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