Still Miles to Go

Tomorrow, Keith takes me in to Boston ultra-early for my surgery. My dear friend Stefani will be joining us to provide moral support and advocate for us should something happen. I must emphasize that nothing should happen. This is a routine procedure being performed in one of the world’s best hospitals (MGH). However, they are requiring me to undergo general anesthesia. I don’t always handle general anesthesia well. In fact, I don’t handle general well. The most recent time, for instance, I stopped breathing for a short time following anesthesia. And recovery is long and arduous.

But, apparently, there’s no way around it. We requested numerous times to perform the surgery under local anesthesia, but the surgeon insisted that it had to be done under general. We’re not sure if this is because I’m labeled a “high risk” case and they decided to perform the surgery in the Same-Day Surgery OR rather in the outpatient clinic like it usually is.

The procedure I’m having done is a muscle biopsy. For nearly a year, I’ve had a “clinical” diagnosis of mitochondrial disease because I have so many of the hallmark features: seizures, dysmotility, stroke-like episodes, dysautonomia, lactic acidosis, and muscle fatigue and weakness, among other things. The muscle biopsy will tell us where in the electron transport chain I have deficiencies. Below you can see a depiction of the electron transport chain:

The Electron Transport Chain in a mitochondrion

As you see, there are 5 different steps, or “complexes.” Because of my seizures in June, I was unable to travel to get a “fresh muscle biopsy” in Cleveland and I am left with only the option of getting a “frozen muscle biopsy” in Boston. The largest difference is that the frozen does not detect deficiencies in Complex V. That means roughly 20% of mitochondrial defects are not detected with frozen muscle biopsies. We’re hoping that I’m not in that 20% because we do NOT want to have to repeat this test.

Unfortunately, we’ll have to wait a few months to get the results back to us. During this time, Keith and I plan to focus primarily on my GI issues. Unfortunately, my reflux is no longer under control. We tried upping medications and adding a few, but nothing has helped. Additionally, we had to discontinue the only one that had any effect (though it was small) because it shot my heart rate (which is already high) up to 180 while laying down at rest. It also caused my blood pressure to vary unsafely, going from 90/60 (somewhat normal) to 80/45 to 127/70 in just minutes. Needless to say, we dropped that one fast. At the end of next month, I will be undergoing the AD motility test at Tuft’s Floating Children’s Hospital which will (hopefully) give us some more answers/options.

Lastly, I wanted to ask for positive vibes/thoughts, prayers, and love (whatever your cup of tea may be) to be sent in the direction of our dear friend Eithene. She’s doing much better now, but she’s still not out of the woods. She was moved to the ICU last week due to multiple drug-resistant viruses and sepsis. She’s an incredibly spirited fighter and I hate to see her hurting. We’d also like to send some up to Vermont where our new friend Matthew was re-admitted after his ileostomy surgery. We’re hoping to see him this weekend (assuming both he and I are recovered) at the MitoAction Walk. Feel better soon, kiddos!