Anyone have Schwannomatosis? (Neurofibromatosis type 1 (NF1)

<p>I have a granddaughter who is NF-1 (neurofibromatosis -1) and has had a cancerous nerve sheath tumor in the past. It was removed, but she now has another larger one. She was given an experimental drug, but it failed to help her, and she now has cancerous lesions in her lungs as well. I would like to hear from anyone who also has a family member in this condition, and also to find support for my daughter who is devastated--she also has two other NF-1 children with tumors, and worries that she faces losing them all. Thank you.</p>

I'd like to know if I have schwannomatosis. I've had four tumors removed from my spine. The first one when I was 19 at S1, the second (S1) and third one (L5) when I was 26, and the fourth one when I was 43. My insurance will never pay for the test to get a definitive diagnosis. The second tumor was a recurrence of the first. It was believed they never fully removed the first. It grew through my sacrum and into my pelvis. It was the size of two large grapefruits and weighed 8 pounds. My pain was repeatedly ignored for seven years. That's why it was so big. My surgeon's had to cut the nerve roots at the spine at L5, S1 and S2 so that the tumors would not come back. It took two years before I could walk again. I just had my seventh spine operation in January 2016. My 21st surgery overall. I've been in pain since I was 16 (35 years now).

It sounds like your journey with NF has been more difficult than I could even imagine experiencing. Obviously, you have great strength. I am not a medically trained person but I belong to 4 NF Foundations and through them I have learned a lot about all forms of NF. The Children's Tumor Foundation and NF Midwest are great information resources. 1993, at 39yrs, first surgery L2 - L4 and abdominal - NF barely known then. 2008, at 54yrs, second and third surgery - Schwannomatosis was a newly discovered form of NF. My genetic testing was through Mayo Clinic in Rochester. Insurance turned me down too, but Mayo Genetics Clinic and my neuro-surgeon re-applied and re-phrased the need for it 2X before getting approval. The first advice you will always hear is to find a clinic and doctors who are NF knowledgeable/experts. Some of the bigger NF Clinics have specialized pain centers. I love Mayo Clinic, this is where I have come since 1993. I have learned that NF is a genetic mutation, each form of NF a different mutation, there is no cure and no definitive way (yet) to keep tumors from recurring. Tumors grow on nerves, any nerves, anywhere there are nerves in the body. I can picture the tumor having a little root or foot to attach it to the nerve, like you described your surgeon saying. A tumor can be removed from the nerve and maybe it won't return in that exact same spot, but the genetic defect can cause another tumor to grow right next to it on the same nerve or a nearby nerve. My surgeries did not involve removing any of the nerve. Thankfully, my L2 - L4 area does not hurt me. I incurred some nerve damage in 1993, but it is not in a painful way. Wow, you spent 2 years to walk again? I still remember the feelings and those I will never forget - how stunned, how grateful I felt when I literally walked out of those surgeries. Sadly, pain is one of the criteria most associated with Schwannomatosis. I so hope your last surgery in January was successful and is not causing you more pain. I can't imagine being without my medical team and their support all these years! A connection, a bond, or just a friendship with them and caring for each other really makes a difference in helping to live with NF. I so hope you have found that too where you go for care. If you like this idea, there is a newly formed Facebook group called Adults with NF - Children's Tumor Foundation where only adults share their experiences with NF and support each other. My thoughts and hopes are with you. I wish I could be more helpful.

Hi @nfrunner! Can you share with me who you see at Mayo for your schwannomatosis? I was diagnosed with schwannomatosis in 2011 and am a patient at a prominent medical center with a well-known NF Clinic. However, my pain is just terrible so I want to have a consult at Mayo. When I contacted Mayo, they set me up for an appointment with a neurologist who is not part of its NF department. I had to cancel the appointment because I suffered a spontaneous pneumothorax (collapsed lung) and could not travel. I am ok to travel now so want to reschedule but I think I need to be seen by an NF specialist, no? Or should I just be seen by the neurologist assigned to me? Would appreciate any guidance! Thanks so much.

Hi - I've had 5 surgeries for Schwannomas once the pain was unbearable. I currently have about 20 - and I'm getting to that pain threshold again. Can anyone tell me whether the Arizona Mayo Clinic is a god one to visit for Schwannomatosis, with pudendal nerve tumors in the ischiorectal fossa area? It's bad. I'm a Kaiser Permanente patient currently - and am looking to be a cash patient for a consult with someone who gets it and has a better plan than just 'well, we'll just cut 'em out! oh well if you lose urological and continence functions - at least you won't have the pain!'. I'm in CA and am hoping the AZ clinic is good.

Hi - I've had 5 surgeries for Schwannomas once the pain was unbearable. I currently have about 20 - and I'm getting to that pain threshold again. Can anyone tell me whether the Arizona Mayo Clinic is a god one to visit for Schwannomatosis, with pudendal nerve tumors in the ischiorectal fossa area? It's bad. I'm a Kaiser Permanente patient currently - and am looking to be a cash patient for a consult with someone who gets it and has a better plan than just 'well, we'll just cut 'em out! oh well if you lose urological and continence functions - at least you won't have the pain!'. I'm in CA and am hoping the AZ clinic is good.

Hello, I was just reading your post and wish you well and a pain free life. I have had severe pain in my rectum on the upper left side for the past 8 years. I have had 4 colon doctors tell me different diagnosis. The last doctor telling me it's not levator ani but torn muscles behind nerves. The doctor said no one would perform surgery because it would leave me incontinent. Do you mind telling where your pain is? My level of pain is so bad and I'm taking dilata to help
Thx. Tom

Hello, your post was shared with me because of NF and Schwannomatosis. I am familiar with the Mayo Clinic Rochester only. I see Dr. Robert J. Spinner, a neurosurgeon. My NF/Schwann is very mild and have had only a few tumors and a few surgeries. I know others with more serious cases like yours and I am sorry, I know from them it is very very hard. Dr. Spinner is one of their NF experts and also, with peripheral nerves. There is no cure for NF. There is no medication, unless a form of chemo, to shrink these tumors - to help with the fact that surgery is difficult, because they wrap so much into the nerves. I’ve heard the expression “haircut” in reference to tumors from friends who have had many surgeries. Because nerve damage is at great risk, quality surgery to reduce your tumors may be your best option. I learned from another NF friend that some chemo drugs can help with pain. I want to recall that the drug was Avastin, but you would need to inquire. Dr. Jashiri Blakely at John Hopkins is an expert in NF, Schwannomatosis and Avastin, also. For an opinion beyond general surgery/colon you could consider a good NF Clinic, NF speciality neurological surgeons for a second opinion. I wish the best for you, some choices, answers and less pain.

Hello, I was just reading your post and wish you well and a pain free life. I have had severe pain in my rectum on the upper left side for the past 8 years. I have had 4 colon doctors tell me different diagnosis. The last doctor telling me it's not levator ani but torn muscles behind nerves. The doctor said no one would perform surgery because it would leave me incontinent. Do you mind telling where your pain is? My level of pain is so bad and I'm taking dilata to help
Thx. Tom