My Mid-Life Curveball

I’m a 50 year old woman with Neurofibromatosis Type 2 (NF2
for short) but I didn’t know it until the winter of 2001.

Rewind to the summer of 1973. I was young,a mere twelve years old. I was lucky too, living out a childhood that was full of love, fun and unencumbered by any needs or wants. I spent every summer at the Jersey shore where my grandparents had a house on the bay. We belonged to the local yacht club were I learned to swim and to sail. I had a circle of many friends and we spent our summer days at the beach, swimming in the bay and riding around in our motorboats, sailboats and jet skis that we were so privileged to have. We also wrestled around a lot and on a clear early summer day we were across the street from a friend’s house playing on grass that was like a cushion, someone grabbed my upper left arm, hard, and I howled in pain. It was at that point that the twelve year old started to grow-up. Running home to my mother for comfort, I looked at my arm and could see that it was visibly larger than my right arm and had funny looking bumps just under the skin running all the way down my arm to my wrist. Why hadn’t I noticed this before?

I was scared. I vaguely remember thinking “CANCER”! After much reassurance from Mom, Dad and my Grandfather I was begrudgingly convinced it wasn’t cancer but worried that it was likely something just as bad or worse.

My privilege kicked in again. Because my Grandfather was a doctor he had “connections” at the Hospital of the University of Pennsylvania. He got me an appointment to see a world-class neurologist. I felt I was in good hands or at least that’s what my parents and grandparents kept telling me. I worried. Boy, did I worry. I’ve always been a world-class worrier but I was having visions of having my entire arm amputated. After a series of painful appointments, painful biopsies and painful EMGs (electromyographs) that lasted for over two years, a diagnosis was forthcoming. When I heard my world-class doctor say “a very mild case of neurofibromatosis type 1” I looked at my parents, they looked at me and after a collective sigh we asked “What’s that”? The doctor was generous with his time and explained to us that neurofibromatosis type 1 is an incurable disease of the peripheral nervous system characterized by café au lait spots on the skin, and the growth of tumors along nerves in the body. He said I had an atypical case but that the symptoms of this disease vary widely among affected people. He also said that he saw no reason that I couldn’t continue to grow up and have normal teen years and an adult life. I felt an enormous weight lift – I was going to be ok! My
parents and I were so relieved.

Even though I continued to have to cope with the pain in my arm, I never let my NF1 get in my way. I continued to spend summers at the shore, continued to live my privileged life. I began racing sailboats at our local yacht club and at other clubs in the area. And I was good. I was winning! I sailed competitively for about 6 years until I was 17 or 18 and won a lot of races and received a good share of the trophies too. I went deep sea fishing with my father and reeled in a lot of fish. A sport I continue to enjoy to this day. I learned to waterski and snow ski. I learned to surf too, but not well! I was even a bit of a dare devil! I excelled at school too. My father was a History Professor at a local college that I enrolled in after graduating from high school with honors in 1978. I graduated from our local college and went on to study Biology at Trenton State College. I had a high bar to meet because my father had graduated number 1 from his college. I was driven to match his achievement. All the while I barely gave my NF a second thought. As a science major I took it upon myself to learn more about my NF1 but never let it hold me back. I graduated number 1 with a 4.0 grade point average and received my Bachelor of Science in Biology. Take that, DAD, I thought!

After working at several low-paying jobs in labs in academia, I began working for Bristol Myers Squibb where the pay was considerably higher! Several years later I had the opportunity to work for a small startup company on Long Island New York doing cancer research. I would have to move out of my parents’ house, out of New Jersey and move, alone, to Long Island. I didn’t really give it a second thought. I moved, never even considering my NF1.

Fast Forward to the fall of 2002. I was 41, married to the love of my life, Henry, still working at the startup company on Long Island and living in New York City! We were child-free, a decision we made together since there was a 50% chance I could pass the gene and therefore the disease onto each of my children. Thankfully I had the good luck to be married to the only man I know that didn’t really want children. Neither one of us wanted to take the chance because even though I had a mild case of NF1, my children could end up with much worse.
So, I loved my husband, my job and living in NYC. I also still spent some time (weekends, vacations) at our house at the shore that was now my owned by my parents. Henry and I took advantage of living in NYC. We went to plays, to concerts, to marches, to dinners, to friends. I thought about my NF1 over the years but never saw a doctor for it. I remember having some fleeting thoughts like “Thank goodness I have a mild case of NF1 and not the other more serious type called NF2.” At least I thought NF2 wasmore serious. My work life was going well too. We had discovered a compound that had a good chance of becoming a real anti-cancer drug and I had been in on it. I was in the group that discovered it and had done much testing on it along with colleagues. I had visions of our group on the cover of Time Magazine! It was named OSI774. And sure enough, through a great deal of work our compound passed clinical trials and was approved by the FDA with an indication in lung cancer. It was named erlotinib and marketed as Tarceva. Whata thrill it had been! My privilege had kicked in again. In fact what a privilege it had been to have worked on it! But my privilege was soon to take a serious dive.

I wasn’t feeling all that well. In fact I had this ringing in my ears that wouldn’t go away, my balance was off as if I were dizzy and the pain in my arm had gotten considerably worse. Motrin wasn’t killing the pain anymore. I had a sneaking suspicion that my NF1 was acting up so I made an appointment to see a neurologist. She examined me and ordered an MRI which I’d never had before. I was shaken. But I made an appointment to have an MRI and went. Essentially you have to lie very still in this coffin-like tube, the room is cold and dimly lighted and you only have a gown on. The platform moves back until your upper body in inside the very large circular tube. When the technician starts to image, very loud, extremely loud magnets sound like they are going around your head inside the tube. If you have pain it is very hard to endure lying completely still for about 40 minutes! Well, I made it through the test and a few days later the neurologist called and told me the image of my brain showed some tumors and she wanted me to see a specialist. Tumors? I was really scared.

My husband and I went to see the specialist. She got right down to business practically blurting out, “There’s been a mistake, you don’t have NF1 you have NF2.” So now I thought my privilege and luck had finally run out. My mid-life curveball.

I was devastated. NF2 is progressive (as is NF1) but it means brain surgeries and more pain and balance/falling problems. I would go deaf, my facial nerve might be cut during a surgery permanently deforming myface. Paralysis, amputations - it was all too much for me. My head was swirling that I literally almost fell off the examine table. And then came the tears. I was inconsolable. All the assumptions I had made about my illness had been WRONG. For over 30 years I had learned to cope with NF1. Now I would have to start coping with a not so mild case of NF2.

Fast forward to present day. I am a 50 year old woman with NF2,not NF1. Since my re-diagnosis I have had a rocky road. I had to replace one set of coping skills with an entirely different one. And my disease seemed to be progressing all too fast. I have already had one brain surgery with more likely. I’ve had to cope with a major jump in pain. My backand legs hurt as well as my arm. I have scoliosis. But I found a dear pain management doctor who got me on the correct combination of medications that made coping with the pain manageable. I have learned that with my many doctorsthat I am my best advocate – ask and I receive! There was a considerable amount of guilt too. My father was sure he’d passed this onto me but there is no familial evidence that he did. Up to 50% of new NF2 cases are due to a spontaneous mutation in the NF2 gene and not genetically passed. I had to go on permanent disability so I retired from my dearly loved job. Much of our self-esteem comes from what we do and I had lost mine. I had to find something to get my mojo back. It took years but I have found several projects to work on as a volunteer which has made life a whole lot better. And there was depression too. But I found an absolutely wonderful therapist whom I still see. She has taught me so much. Thanks, Sharon.

So life with NF2 when you get right down too it is not unlike life with NF1. It’s mostly just a different set of coping skills and support groups. Thank goodness for Facebook, Inspire and the NF2Crew on Yahoo Groups. I’ve met a wonderful circle of new friends. Some of my new friends have NF2 and some don’t but they all understand NF2 issues and challenges. Thanks to Jaime C., Lori, Marie, Barbara and Megann! They are a wonderful support system.

I’ve enrolled in a clinical study at the NIH about the natural progression and history of NF2. Lately, I am helping a new friend with her website which is an NF2 support and information website. We are working on a list of drugs that are either in NF2 clinical trials or candidates for them. She sent me the list and there in black on white I met on old friend. The compound that I had worked on more than 10 years ago and watched get FDA approval, OSI774, erlotinib or Tarceva was on the list that might be a good candidate for NF2 trials. And THAT has given me the greatest sense of privilege and accomplishment I’ve ever known!