Let Your Voice Be Heard -
Stories from participants in the magnesium clinical trial
by Jessie Gower, PXEer
This article first appeared in the June 2014 eNewsletter.
One of the delightful outcomes of my decision to attend the PXE International Biennial Conference in 2012 was that finally, after living for over 20 years with the diagnosis of the rare disorder pseudoxanthoma elasticum (PXE), I would get to meet other people with PXE, real people with real stories that I was eager to hear. There are few, if any, people with PXE in my neck of the Maine woods and, though I travel to Boston for some of my PXE related care, I’d yet to go face-to-face with another person with PXE. Admittedly, I hadn’t reached out much either. Too afraid of becoming a person whose existence was defined by my condition, I’d consistently sought appropriate medical care, but I’d also managed to maintain some distance from the potential reality of my future by keeping away from anyone who might manifest the possibilities in their own experience.
For some reason, in September 2012 I felt ready to take that leap, and the conference in Bethesda was the perfect venue. There, I met people whose lives have been affected in every way imaginable; most were thriving. As I listened to their stories, and shared my own, I felt waves of relief. Even those stories that, in my imagination, were scary or foreboding, when told by someone who had “been there” seemed somehow reassuring. The person in front of me had survived, even thrived, and I could too.
At the conference, I learned more about the history of PXE International and the research it has helped develop and support in the brief, but steep, trajectory of its lifetime. My admiration for its founders, staff and supporters surged and deepened, and I began to ask, “What can I do?”
So when the announcement came that work with a mouse model had demonstrated that magnesium supplementation might halt the progression of the disorder, and that Dr. Mark Lebwohl at Mt. Sinai Hospital in New York would soon begin recruiting for a clinical trial to test this potential in humans, there was no question but that I would apply to be part of the study. Though I am still teaching full time, and the commitments to the study would involve some tricky logistics, this was something I felt that I just had to do, if not for me, for anyone for whom such research might prove helpful in the future. Much to my delight, I qualified for the study and, for the past 15 months, I have taken part in this exciting development in the search for an effective treatment for PXE.
I first traveled to Mt. Sinai at the end of January, 2013, where I met Dr. Shelbi Jim On, the dermatology research fellow who has remained my primary contact for the study, and later, Dr. Wayne Fuchs, the ophthalmologist in private practice who is collecting the retinal data for the study. I even got to meet briefly with Dr. Lebwohl for a consultation on the best site for my biopsy. Dr. L. shared with me an interesting anecdote about the origin of this trial. They had been studying another element for its effect on PXE and, in a blind study, both the mice receiving the placebo AND those receiving the element in question had shown improvement. In analyzing the data, it was apparent that the only common element received by both groups was magnesium. Magnesium was then tested in the mouse model, and, when it proved beneficial, the development of the present clinical trial was begun.
My first two days in New York last January resembled those of other participants. I underwent imaging, biopsy, and blood and urine collection that would yield my baseline data and give final determination about my qualification. Because I am also enrolled in the associated Cardiology study, I also underwent a thoracic CT. An unusual elevation in one of my initial blood tests required a retest, which turned out fine. It all felt a little crazy at first, and nothing could have prepared me for traipsing all over Manhattan with a 24-hour urine collection container in a Dean and Deluca bag (though this did make for good conversation starters when encountering another trial participant in a waiting room).
Once the baseline data was established, I was sent home with instructions for blood draws, and shipment of blood and urine samples from Maine, as well as future appointments and, most importantly, a giant bottle of something that I was to take every day. I say “something” because for the first year the study was blind—no one knew whether participants were getting magnesium or the placebo. That would change when we returned for our one-year follow up, at which point we were all given magnesium, and at a higher-level dose than originally planned. The original dose seemed to have been well tolerated among those who had received it in the first year, so Dr. Lebwohl et al had worked with the FDA to approve a higher dose for the second year of the study. I have no way of knowing whether I received the placebo or magnesium for the first year, and I am tolerating the magnesium well at this point.
In the early spring of 2015 the trial will conclude, and at that time the researchers will begin the rigorous work of analyzing data. As a participant I am, of course, eager to learn the results. As a science nerd, I appreciate that careful analysis requires time and attention to detail and I am more than willing to be patient while the researchers give thoughtful consideration to all that they learn. I am grateful to have the opportunity to be part of this process and, oddly, will miss it when it concludes.
Every medical professional with whom I met on those two days last January was thorough, caring, knowledgeable, professional and communicative. After each appointment, I walked away feeling enriched. In the months since, when I have returned for follow-ups, my experience has been the same. And when in between visits I have had questions or concerns, Dr. Jim On has gotten back to me within 12-24 hours. Here at home, the lab at our local hospital has been helpful and cooperative, and each time I go to get blood drawn, yet one more medical professional gets to learn a little bit about this rare disorder called pseudoxanthoma elasticum.
I feel honored and privileged to be part of this study. The small inconveniences of scheduling blood work and travel pale in comparison to the hope that this trial might provide some direction for future treatment of PXE. What began for me with the feeling that my participation is respected and appreciated has blossomed into a certainty that I am involved in something important, that I am a significant part of a team that has the potential to benefit others, and that I, myself, am learning and growing through what is likely to be, for me, a once in a lifetime experience.