The MH in Me

I was a kid when I first learned about Will. He was the brother I never met. Will had been taken from my parents before I was born, when he was just 2 years old. One day, in 1966, he went into surgery. It was supposed to be routine: bilateral inguinal hernia repair. But he never came home. The doctors didn't have a solid explanation for what happened. Something went irreversibly wrong. It might have been a bad reaction to the anesthesia. They just didn't know for sure.

That lack of clarity made Will's sudden death even harder for my parents to process. They'd not only lost their baby boy, but they didn't even get an answer as to why. They'd finally get the beginnings of one, though. More than 2 decades later.

My mom was having an anesthesia evaluation for a vein stripping procedure, and one of the routine questions was whether anyone in the family ever had a problem with anesthesia. Upon learning about my brother, the anesthesiologist said, "Wow, that sounds like this thing called malignant hyperthermia that we didn't really know about back then." While we still didn't know for sure if it was MH that took Will, the OR team took the appropriate MH precautions during my mother's surgery.

Flash forward to the early 2000s. I was in medical school and then residency, on my way to becoming an orthopedic surgeon. Obviously, I had a lot on my mind, like any young doctor-in-training. But when MH came up during lectures, I was unusually attentive.

Now, I'd never been tested for MH, because the diagnostic test is a muscle biopsy — a fairly large piece of muscle, about as big around and a little bit longer than your thumb, taken out of your lateral thigh. In the OR, however, I absolutely operated under the assumption that, because of what happened to Will, I was possibly MH-susceptible. I always make sure to tell the anesthesia personnel I'm working with that I could possibly have a genetic mutation that causes MH. That way, they'd know what was happening in case I ever lost conciousness while performing surgery due to vented gases that could trigger an MH event. Fortunately, nothing like that ever happened. In fact, I've yet to experience an MH crisis in the OR — with myself or with a patient — and I hope I never do.

The day of reckoning — the day I had to know, for sure, if I was susceptible to MH — finally arrived in 2010, during a scary time in my growing family's life.

My wife was experiencing a complicated pregnancy with our third child, and we were pretty certain our newborn boy was going to need surgery. Knowing the MH mutation is genetic, I had no choice but to undergo the muscle biopsy in hope that we wouldn't need to worry about MH for my son. It's a good thing I did, too. We found out conclusively that I do have a mutation that causes MH, and so my children have a 50% chance of susceptibility, too.

My hope is that we can screen all patients for MH with a blood test before surgery.

It was actually satisfying on some level to get that diagnosis, because in addition to protecting my son from harm, my parents learned definitively what had happened to my brother 44 years before. It gave them closure. They finally knew.

I also thought of the doctors who were helpless to save Will. How heartbreaking must it have been to come out of the OR and tell somebody their child died — and not be able to tell them why. I was encouraged that we'd come so far since then in our understanding of MH.

Let me qualify my comments. I'm not an expert in malignant hyperthermia. Thankfully, a growing number of physicians and researchers are. Me? I'm just a guy who's MH-susceptible who's also a physician.

I'm probably more aware of MH than the average surgeon. But I don't inquire about it with my patients pre-operatively, beyond talking about the general risks of anesthesia. An MH screening falls under the supervision of the anesthesia team. I don't want to muddy the waters there, and I also don't want to information-overload my patient.

While I'm not directly involved with the Malignant Hyperthermia Association of the United States (mhaus.org) in any active working capacity, I'm so impressed by their work. If you walk through a lot of hospital ORs or outpatient surgery centers, you'll see posters from MHAUS. They offer wallet cards, bracelets, necklaces. They educate the industry so well; they do so much great work on the front lines, in the hospitals, in the surgery centers. But while they're also trying to raise public awareness of MH, their resources are limited and, rightly, most of their energy is focused on assisting medical professionals. An effective national marketing campaign for MH awareness is simply beyond their scope. So unless you're a medical professional, or have a family experience with it directly, you probably don't know about MH.

Like MHAUS, I'm doing my best to spread public awareness of MH. I appeared in local media last year, telling my story and explaining what MH is to readers and viewers in my area and — through the internet — around the world.

The current difficulty of testing everyone for MH susceptibility is frustrating. Obviously, a large biopsy is invasive — not something you really want to do with everyone. But right now that's the only reliable test for the condition — the gold standard. In most cases, we're simply relying on anecdotal information without the biopsy.

My hope is that someday, we can screen all patients accurately for MH before surgery via a blood test. Some blood tests today can identify certain genetic mutations that indicate MH susceptibility, but they're not yet reliable enough to spot all of the mutations.

There's still so much we don't know about MH. For example, studies say 1 in 2,000, or 1 in 3,000, people have a genetic mutation that makes them MH-susceptible. So why don't more surgeries result in MH episodes? Why can the same person have 4 surgeries under general anesthesia and be fine, and then that fifth time, they have an MH crisis?

That still-too-high degree of unpredictability makes it all the more important that hospitals and surgery centers — especially standalone ASCs that don't have the staffing or emergency resources of a full-service hospital — prepare themselves through education of the entire staff, mock drills, the development of detailed procedures, a referral process to get an MH victim to the appropriate level of care, and having the recommended amount of dantrolene and other necessary materials on site.

If your facility experiences an MH crisis, time is of the essence. Minutes are precious. Things move pretty fast. You're almost certainly going to need to save that life on site.

I know, an MH event is rare. It may never happen at your facility. Chances are, it won't. But you still must prepare, prepare, prepare. The alternative is unacceptable. I don't have hard data to back this up, but anecdotally, I suspect the level of MH preparedness varies in the outpatient surgery sector.

Obviously, dantrolene is expensive. The temptation is to not keep enough dantrolene, or none at all. Please don't rely on borrowing some from another facility or sharing some with another facility. You should have dantrolene — and not just some, but at least the minimum recommended amount: 36 vials of Revonto or Dantrium; 3 vials of Ryanodex — on site, at all times. And you should check those expiration dates, because it's only good for 2 (Ryanodex) or 3 (Revonto and Dantrium) years.

There's so much we still don't know about MH, and such a lack of general awareness about it, that it's impossible to predict exactly when a crisis will occur. Your center needs a workable plan in place for when somebody does trigger. Because that definitely will change the outcome. And creating positive outcomes is what we're trusted and paid to do. OSM