Below is an essay written by my 2013 patient partner, Gail Rosenberg. Gail lives with a disease called Idiopathic Hypoparathyroidism.
Sometimes, it’s possible to recall the exact moment when your life has changed forever. One such moment for me came in July 2007. Sitting on my back stairs, instead of enjoying the warm sunshine on my face, it dawned on me that the incessant “humming” in my arms, legs and feet, the cramping in my hands, the numbness in my face and lips – this was the new normal. The tingling that I couldn’t shake, similar to the feeling when your foot falls asleep and begins to wake up – the involuntary clenching of fingers – symptoms which had been gradually encroaching on my day to day – were now simply the way I was.
Still, it took a frightening incident on the highway to convince me to see a doctor: barreling along at 70 mph, my hands contracted in spasm to the point where they resembled claws. I had difficulty holding the steering wheel, and found it almost impossible to grasp the stick to shift gears. Two months of dismissing seemingly random occurrences was over. The question was why this was happening – and the answer was idiopathic hypoparathyroidism.
I’ve learned more about blood calcium and homeostasis in the past year than I ever imagined. (Frankly, I never thought about it.) Hypoparathyroidism is a rare disorder in which the body produces too little or no parathyroid hormone (PTH). PTH regulates the amount of calcium in the blood, and the lack of it results in hypocalcemia – low blood calcium. In simple terms, while calcium is important for bone health, it is also critical for muscle activity – it keeps the heart beating steadily, and blood, nerves and muscles working correctly.
It’s unusual to present with idiopathic (unknown origin) HPTH as an adult. Most typically it is brought on by accidental damage to the parathyroids during thyroid surgery or abnormalities/disease of the parathyroids themselves.
To this day I vacillate between two minds – concern about having a lifelong disease so rare that limited research has been done to find effective alternative therapies, given that there is no cure (you never hear about “Walks for Hypoparathyroidism”) and gratitude that I’m as healthy as I am. I know there are so many others that are much worse off. But there are days when I wonder what all this will mean years down the road, how it will affect me physiologically. I’ve logged hours and hours online trying to learn everything I can, often scaring the wits out of myself with what may come in the future.
For the first few years, I bounced from doctor to doctor, each who knew little about HPTH and who treated me dismissively, leaving me frustrated and disgusted and resigned to dealing with the condition myself as best I could. When I received information about a clinical trial for a synthetic parathyroid hormone (PTH) to treat HPTH, I wasn’t sure how to react. I carried the one page letter and response card around with me for some time, reading it over and over, unsure of what to do with it.
Yet that was another defining moment, a seismic shift, where my life changed again. A few emails back and forth, a few phone calls, and I found myself nervously sitting in a small clinical office in a laboratory research building. What I also found was hope.
I must have grown used to not feeling well, because when the results came back from the preliminary bloodwork my levels were the lowest I’d ever seen. I did have a sense of feeling “off”, but just as I had come to expect what I called the “glow” as a normal state, this other feeling was part of the package.
Walking up Cambridge Street making my way to work after that first visit with Dr. Mannstadt in May, I literally cried with relief. Finally, I had found someone who understood what I was going through, who knew how to help me, and who seemed to actually care.
Initially, though, I wasn’t sure I could go through with it. I thought it was a huge time commitment and inconvenience. I had to follow the sponsor’s protocol, take the medications and supplements they provided me, and record my intake twice daily in an electronic diary which complained noisily if I forgot. The calcium pills were too large for me to swallow; just to get them down I had to pulverize them with a hammer and mix the powder into yogurt. I would have to get blood drawn frequently, and endure numerous 24-hour urine collections. I found it difficult to adhere to the new regimen, and after only a week and a half, I started to question my ability to see the next nine months through.
The decision to do so was worth every moment of effort.
After a stabilization period, I was “randomized” and scheduled for my first injection. The self-injection terrified me – my fear of needles and the sight of blood were almost overwhelming. And with Dr. M. away on vacation, I felt disconcertingly adrift – abandoned, even. Under the watchful eye of Dr. J. and Mike, who had to witness my perspiring hands and uncontrollable shaking before actually taking the plunge (pun intended), I managed to do what I’d been dreading for months.
At first, it wasn’t always easy – in fact, it was comically difficult at times – repeatedly trying to give myself injections with the cap on the needle, forgetting to switch the pen to the “on” position – but over time my comfort level with the process grew and it became fairly obvious that I was not getting the placebo.
It’s difficult to describe how wonderful “normal” feels. Until there is a state to demonstrate the opposite, it’s almost impossible to imagine the joy of feeling, well… nothing. When the optimum dosing was achieved and all I needed to do was give myself an injection once a day to feel good to go, the years of constantly taking pills and supplements faded into a distant memory. There was a strange kind of euphoria about feeling so normal, tempered with the knowledge that this is a chronic condition and that there was a finite period to the clinical trial.
Still – I frequently found humor in the effort, and inspiration, too. There’s something intrinsically amusing about discovering during casual conversation that the person sticking a needle in your arm was an art history major with no medical background. About accidentally dropping the little urine sample cup in the toilet. About having blood drawn while doing a wall sit because there was no other place to be seated. About dragging an eight pound bottle of pee on the train. And having it leak. About discovering that people would actually want to steal the squishy things you squeeze to make a fist.
And though I never really felt like a guinea pig (as people frequently asked me), I took this as an opportunity for turnaround as fair play. Never a baker, I started bringing culinary experiments of my own in for a captive audience – baked (or underbaked) muffins, zucchini bread, scones, rugelach, brownies – and chocolate dipped strawberries. It gave me an outlet to express my gratitude for my incessant questions – and guinea pigs of my own.
The exuberance I felt when things were going well crumbled into a crushing and profound despair when the injection period came to an end. I joked that “the trial giveth, and the trial taketh away”, but it was no joke. My freedom came to a screeching halt, returning reluctantly to the regimen of pills and supplements. Symptoms came rushing back with a vengeance, reminding me in no uncertain terms what I had left lurking in the wings. It literally made me sick – fatigued, nauseated, a roaring tingling sensation in my arms and legs and tetany in my hands and face, memory impaired and with a pounding head. The severity will subside in time, but keeping the symptoms at bay will require constant attention.
So the good news is that my involvement and positive outcome have helped demonstrate the efficacy of this treatment. The bad news is that FDA approval is still on an unknown timetable. With another trial in the near future, I can take solace in the fact that discomfort is a temporary state.
This experience has had such an impact on me, on my life, and not just from a health perspective. Instead, it feels like just the first step in a journey. It has introduced me to people I never would have met, to things I never would have thought about. It has sparked an interest in research advocacy, and maybe more… who knows?
What I do know is that as this journey continues, I no longer navigate alone.
8th February, 2011
Postscript 17th January, 2013
It’s been almost two years since I wrote this, since I was in this place of uncertainty. I’m in my fourth extension of the trial, still no FDA approval, but under the same care of the same doctor, and for the most part doing really well. I can’t imagine life without this drug, because with it, I am just like everyone else – going through my life with ups and downs, having good days and infrequently not feeling not so great, but for the most part feeling like a normal person. I can go for periods of time where the injections allow me to almost forget I am a person with a rare disease – interrupted by brief periods where inexplicably the protocol fails me and I am reminded of what lurks beneath.
Still – as I look back on where I have been, I am so grateful for where I am now, and for the experiences I have had, the people I have met as a result of my condition, and the passion I have developed for helping to further research for this and other rare diseases. I am not only not alone, I am full of hope and buoyed by support… and filled with a drive to make a difference. And what a difference two years makes! Being a patient partner in the Genzyme Running for Rare Diseases Team is a means of having an impact – and I am thrilled to be a part of this effort. I may not be pounding the pavement with my partner Kai, but I will be cheering her on every step of the way – and now I know I have her in my corner as well.
It’s a wonderful place to be.