By Henry Ehrlich
One of the benefits of attending scientific meetings is the chance to wander outside my accustomed beat of IgE-mediated allergies to find out what other things can afflict the immune system. Last night was such an occasion. Dr. Martha White, Research Director of the Institute of Allergy and Asthma in Maryland (and a founder, along with Dr. Paul Ehrlich, of AANMA) spoke about hereditary angioedema (HAE), “an autosomnal dominant disorder defined by a deficiency of the protein C1 esterase inhibitor (c1-INH).” This condition is comparatively rare, but debilitating, causing recurring swelling of various parts of the body. The facial edema is disfiguring enough that many patients are reluctant to appear in public, causing them to miss days at work, school, and to limit their career aspirations. Attacks result in 20-100 days of incapacitation annually. Unsurprisingly, they suffer from depression at twice the rate of other Americans, and are at risk of death if their laryngeal swelling isn’t treated in time.
I won’t go into the details of the talk. Most allergists never see a case and those who do generally refer them to other specialists who can better deal with the life-threatening corollary symptoms and side effects of treatment. This is certainly true of Dr. Ehrlich, who has only seen two cases in more than 30 years, both of them adults. He tells me he was surprised as a pediatric allergist to hear Dr. White say that HAE often presents in children, including infants, and believes that all of them will receive better care if they are referred to medical centers that specialize rather than be treated by regular allergists. This was borne out in part by Dr. White’s observation that she sometimes gets calls from emergency room doctors who say her patients show up with their own medicine and ask that it be given—not standard procedure in ERs—and they don’t know what to do. They are always convinced when they hear that 40% of cases in which treatment is delayed result in fatal asphyxiation.
However, the evening raised a number of issues that reflect more generally on the practice of medicine and dovetail with my own concerns.
One was a slide and accompanying commentary by Dr. White that c1-INH supplementation to help prevent attacks had been approved in Germany 30 years before the United States. I later asked our speaker about the lag. She replied that HAE is considered an “orphan disease.” This seems to mean that the numbers of patients were too low to support production of a very complicated treatment all those years. It must be refined from blood plasma and infused every few days. It is also so expensive that it makes Xolair look like generic aspirin. Now several companies offer it in this country, including ViroPharma, a sponsor of the evening’s proceedings. (Because the allergists present see so few of these patients, it’s unlikely to result in a windfall for the sponsor.)
The second item worth mentioning was that the talk was interspersed with video of three HAE specialists talking about the merits of various acute and prophylactic treatments—the cheaper prophylaxis involves anabolic steroids. The segment that really got me was the tendency of patients not to level fully with their doctors about the extent of their suffering and the effectiveness of current treatment, often because they are concerned about the cost, or because they don’t want to hurt the doctor’s feelings. As a patient with much tamer maladies than this, I am fully familiar with the thinking behind the aphorism of television’s Dr. House that “everybody lies” but it didn’t occur to me that it also applies to conditions as acutely and chronically miserable as HAE. The video doctors urged their colleagues to go the extra mile in questioning their patients.
The third thing that stuck in my mind was a comment by Dr. Robert Lin (current president of the New York Allergy and Asthma Society, our host last night) that this rare disease has engendered the creation of many more diagnostic and treatment guidelines than anaphylaxis has, which is perhaps one of the reasons that ER doctors don’t know enough about that either.
This piece really hits home, for me, as I have an “orphan disease”. Such is the life of someone with an orphan disease to show up in an ER, or any medical establishment, and know more about one’s own condition than the doctors present. ER doctors and all physicians need to respect their patients’ knowledge of their own bodies, more, as I find they are often very dismissive. Some, however, are very willing to sit and listen to everything I can tell them about my condition, in the hopes that they might help someone else who might cross their path. I guess I fall into two categories with doctors – “pain-in-the-butt, perplexing patient” or “fascinating case”. I, obviously, prefer the doctors who find my condition fascinating. No, not for my ego’s sake, because I don’t think many people want to be intriguing to medical professionals, but to me, it’s a sign of a doctor who knows that the learning never stops and they haven’t seen everything, yet.
It has been the “curious and intrigued” doctors, throughout my life, that have helped me the most and to whom I am most grateful.
I can also relate to the issue of treatments not being available for purely financial reasons. There is a medication that, for all intents and purposes, can give me a functional “cure” for my condition, but the FDA approval process that is wrapping up has taken over 20 years to complete, because of funding issues. Plus, once it gets that approval, we will probably have to beg a company to make it, as it’s not going to be a lucrative medication, since there are so few of us with the condition, who will respond to the medication.
My condition (hyperkalemic periodic paralysis) causes episodes of full-body paralysis and generalized muscle weakness (I haven’t run since I was a child) and for those severely affected (I am probably on the lower end of the spectrum, but have still experienced full paralysis many times in my life), it can be life-threatening. The medication already exists, and was previously a treatment for glaucoma, so there’s no huge R&D expense to be recovered. It’s just a matter of finding a company willing to make it and at what price. *fingers crossed*
We just had Rare Disease Day on February 28, 2013, as well. The tagline is “Alone we are rare. Together we are strong.” There are so many of us floating out here, with “orphan diseases”, waiting on the approval and production of “orphan drugs”. It sure would be nice if a magnanimous company would “adopt” us!
Thank you, Selena, for sharing your story. Yours is an important point of view.