A friend, and also my first neuro case, passed away this past week. In her memory, I’d like to highlight the disease which she battled– neurofibromatosis.
I first met her in middle school. She was very kind (a rare trait in any middle schooler), with a big smile and always ready to laugh.
We met again later in life when I was working through obtaining observation hours to get into physical therapy school. She came into the clinic I was observing at. She was complaining of balance problems. She previously had had vision troubles too. I also recall her coming to class in high school wearing one of those awful turtle shells after back surgery. She made the best of it though, and made a fashion statement out of it with stickers and puffy paint, which she would regularly remove and then re-design. When the treating therapist performed the cranial nerve tests, he found some abnormalities (what exactly, I don’t recall), so he referred her back to a neurologist before continuing treatment.
Watching this case unfold opened a new door in my career path into neurology. I didn’t know at that point I would walk through it. The case was altogether confusing to me. Orthopedic cases were so much more straight forward and this… wow. I had no idea that physical therapists worked on cases outside the the orthopedic realm until then.
Vision, balance and pain problems continued to plague this young warrior for the remainder of her short life. She passed on into eternity this past week from complications and is now dancing in heaven, pain free. Maybe she’s doing the electric slide, like I remember her doing at our Prom.
Clincally, neurofibromatosis (NF), is an autosomal dominant genetic disorder. Meaning, if you have it, your kids are 50/50 to have it too; however, half of cases are resultant from genetic mutations and no family member has the disease. NF is not picky on gender or ethnicity, so can occur in anyone, anywhere in the world. Basically, the disease causes tumors to grow, usually in the brain. The tumors themselves are benign; however, they compress or grow on top of tissues, rendering those tissues pathologic and variously non-functional. This can lead to any number of symptoms depending on the subtype including: vision trouble, vestibular issues, leg and spinal deformities, neurofibromas (painful little bubbles of nerve endings on the skin), high blood pressure, learning disabilities, distinctive skin discolorations, hearing loss, tumors on any cranial or peripheral nerve.
To learn more about the specific types, go to Neurofibromatosis Clinics Association. And if you feel so lead, consider making a donation to them at the bottom of their website in my friend’s honor, which she specifically requested in lieu of flowers. The money goes toward research into treatments and perhaps ultimately a cure for this disease.