Michael Skyer was diagnosed with NF2-related schwannomatosis, or NF2-SWN, a genetic condition formerly referred to as neurofibromatosis type 2, as a child, a journey that started at the karate dojo. Michael’s dad also had NF2-SWN, so the diagnosis wasn’t a surprise, but that never makes living with the genetic condition any easier.
Michael is one of only a few PhDs in the world with NF2-SWN, and that’s just one remarkable point from his journey. We had the pleasure of connecting about the ups and downs of clinical trials, perspectives on mortality, and how his personal life influences his professional research.
CTF: Tell us about your path to a diagnosis.
Michael: Karate is the reason I learned that I had NF2-related schwannomatosis. While I was about 8 years old, I enrolled in a basic karate class. I started in a “white belt” class, which is the lowest tier of belts and skills. During my time at the dojo, my sensei noticed that I had difficulty doing some basic stretches, including the fact that I could not touch my toes (still can’t!).
My dad, who has since passed, had NF2-SWN. He became suspicious that maybe my inflexibility was due to a tumor in my spine. My pediatrician ordered an MRI, which of course, found not one but several tumors in my spine, and pinprick tumors elsewhere, including in my brain.
When I was in 3rd grade (during spring recess), I had my first spinal resection tumor surgery. Two things I recall most vividly from that hospital stay were the delirious feeling of being on pain killers (I had a strange vision of an egg with an umbilical cord attached to my body) and the very exciting fact that my family brought me a “Bigfoot” Pizza Hut pizza as part of my recovery!
At the time, what were your expectations and feelings about the future? Did you have (m)any options for treatment?
I was so young that I did not really understand what NF2-SWN meant in general or for me in particular. My limited understanding was that “my dad has lots of surgeries for tumors, so I’ll probably need to do that too.” And that assumption has borne out largely.
However, at the time of my diagnosis surgery was the only option available, aside from the do-nothing approach, which has as many risks as the surgical intervention option. Since that time, fads in treatment have come and gone, such as Fractionating Radio Surgery (FRS), which I had done at Staten Island in the early 00’s under the doctor who was later accused of bootlegging George Harrison’s signed guitar (a weird rabbit hole if you are interested: LINK).
I also have undergone traditional radiation therapy, several other traditional surgeries (some quite successful and others moderately so). Lastly, I have done two interventional clinical trials. I’ve also explored personal lifestyle treatments like medicinal mushrooms, ketogenic eating, and spiritual work.
What has been your experience with clinical trials?
I have done two longitudinal “natural history” studies, one qualitative interview study, and two interventionary clinical trials. I’ll focus on the interventionary studies here. One was at NIH for Avastin and the other at MGB (MGH) for Brigatanib. The NIH studies were led by Dr. Ashok Asthigiri and Dr. Bridgette Widemann, I think Dr. W was the PI on the Avastin arm of the study. During that time, NIH paid for my flights to and from Washington, DC. That medicine was an IV-based therapeutic that slightly slowed growth to my target tumors (vestibular schwannomas) but not enough for it to preserve my hearing, which has steadily declined to the point of near-complete deafness. I had a lot of body pain (shoulders, neck) that began around that time and has persisted since. I also had an extreme amount of fatigue.
The second intervention study was at MGH in a study with Dr. Plotkin. While I was also enrolled in a natural history study with Dr. Plotkin, my main work with him was in the INTUITT platform trial, of which, I was in the original cohort for Brigatanib. My treatment started in the winter during the peak of the early COVID hysteria years. While I lived in upstate NY at that time, I drove to Boston regularly to seek treatments and do MRI scans.
My body tolerated Brigatanib very well and I have remained on the therapeutic since then, with a few interruptions owing mostly to the arrogance of insurance companies. Brigatanib slowed growth to all of my tumors but alas did not slow it enough for my target tumors and I was removed from the trial when my VS grew beyond the 20% growth threshold. Since that time, I moved from New York to Tennessee and have found a new NF2-SWN clinical team at Vanderbilt University, including the soon-to-retire Dr. Paul Moots and Dr. Alexander Mohler, who will take over my care soon. Brigatanib has nearly halted growth in all my spinal and peripheral nerve tumors, which is why I will fight tooth and nail to continue on that drug. While halting or slowing brain tumors is a major goal of mine, as you will recall, my journey with NF2-SWN began with spinal tumors, and those have always been equally important to me in terms of containment.
What do you want people to know about life with NF2-SWN?
Overall, my experience was this: At age 9 I realized I was completely mortal and could die. That realization has shaped just about every aspect of my being. While it sounds a bit morose, the realization has also been liberating. I like to say, I have one go-around. I don’t know how long it will take, and I will absolutely make the most of it. I am recently becoming attuned to Stoic philosophy as one of my two major spiritual/existential guiding frameworks. One part of the Stoic tradition is memento mori, or, “remember, you are going to die.” And, again, as dark as it may seem, knowing that death is there and keeping death at the front of my consciousness at all times has made me a better human. Confronted with the idea that hey, I’m not going to be around forever and I certainly won’t be around as long as most, has made me think very hard about making the greatest positive possible impact on the world as I can in the time I have got.
Tell us about your work at the University of Tennessee. Does any of your research connect back to NF?
All of my research is about deafness and disability. In no uncertain terms is that connected to my NF2-SWN diagnosis. Part of my newer research agenda is about working in deaf cultures and deaf education in ways that are foundationally inclusive to disability. There is a longstanding conflict in deaf spaces which essentially goes like this: we are deaf, not disabled–and I find that point of view repugnant. Disability is not a dirty word, nor is deafness. Because of my NF2-SWN I have a unique view on how disability and deafness interrelate and intersect (and I use intersect here purposefully, in the sense that oppression about deafness and oppression about disability in general compound each other and create multiple interlocking forms of oppression.).
Another major area of focus in my research is the idea of harm reduction and, concurrently, increasing benefits to deaf people and deaf and disabled people. I think this is an outgrowth of my personal experiences with both, of course, linked with NF2-SWN. Empathy, shared experience, is the watchword for me, whereas for many researchers of deafness who, themselves, are not deaf, cannot fully experience. Sympathy, while valuable, is a very different valuational construct than empathy.
I also intend to do a phenomenological study of NF deafness at some point, but I have to design a methodology that is commensurate with the problem space, and so far, I have not figured it out just yet.
What’s something about you that has nothing to do with NF that you want people to know?
I am a practicing fine artist in several media, including wood, charcoal, ink, graphic design, metal casting, screen printing, and pastels. I used to be a musician, I played bass in several bands for about 15 years until my deafness was too profound for me to continue, but have released albums on vinyl and CD and have toured the entire US. I am a passionate home cook and this is my “daily” art to practice.
I also am a homesteader with my wife, and we raise animals like chickens and ducks and tap our maple trees to make syrup, among many other projects like dandelion wine and beekeeping. I have also successfully nurtured an avocado tree for nearly 15 years! Of late, I have taken up physical fitness as a major life goal. I used to run daily (my max distance was one 9-mile run) until I hurt my knee, and now I go on daily 2-5 mile walks with my son, who is 1 1/2 years old.
Is there anything else you want to add?
I’m one of few PhDs in the world with NF2-related schwannomatosis, and possibly the only with a focus on teaching and curriculum. This is an exclusive club I am extremely proud to be part of.
