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Finally after 22 years I've got a clinical diagnosis of schwannomatosis after a blood test to identify the gene. I've had 11 spinal operation and constant pain. But just to be able to put a name on it for definite means so much to me , it also means that i can get my 10 year old daughter tested . It might have taken a long wait but at least i now know.!!
Watson syndrome Neurofibromatosis Pain Chronic pain Schwannomatosis Morphine
Kala, I am so happy for you to finally have answers to something you've searched for this long. At least now you know and can just focus on coping and enjoying life.
I hope your daughter's test will come back negative.
Cindy
I'm glad you now know. Could be a step for a cure!
Hi Kala,
What were your symtoms? When I went to a geneticist, they mentioned the same thing but my insurance wouldn't pay for some tests that they wanted to do. I do know that when I had my MRI's and CT's they all said plexiform neurofibromatosis.
I would really like to know what your pain issues are from also.
Thank you for any info you can give me.
Deb
I also know the feeling of finally knowing what is wrong with me. It felt like my feelings and complaints were justified finally. It is great when they figure stuff out, at least it did to me.
And I too wish for a neg result on your daughters test!
Deb
Thanks for all your replies ,
Deb my symptoms were severe pain in my limbs from tumors in my spine I've had 11 operations on my spine and various other ones not so serious at the last scan I was told that there were tumors on my spine too numerous to count I still have pain and I'm on Actiq the morphine lollipop that works well . But finally knowing for sure what I have is fantastic . I live in Ireland and my neurosurgeon told me that I'm the only one that he has with this condition and I had to push and go to every person i could think of to find out what i had , I even travelled over 500 miles to see a geneticist and paid for the visit privately eventually it worked out but it was one hell of a fight !!
Kala,
Best of luck. I think we with schwannomatosis are such a new thing it is hard sometimes to know what is the best way to proceed. Here in my area, the clinic I had gone to (at a children's hospital) basically dismissed me after my tumor (one of about 6 we know of-but I've never had my whole leg scanned!!) was not NF1. Then a year later they sent me an info sheet about schwannomatosis out of the blue!! I had already figured out myself it had to be that, but people including a tumor specialist here in my area looked at me like I dug up a crazy condition off the internet!!
It takes a sense of humor I think to deal with this.
HI Kala
I'm new to inspire. My husband was diagnosed with Schwannomatosis. We have 2 babies that i am constantly fearful of having this condition. I understand by your previous entries that you have a daughter? Do you have any info about our children inheritting Schwannomatosis?
Nelly
Hi Nelly , yes I have a daughter she's almost 11 now and I know what you mean about checking them all the time every time she gets a pain I panic. I was told that now I have my confirmation of schwannomatosis i can get her tested but I'm unsure of what to do for my own peace of mind I'd love to but i don't want to label her for life , I've been told that even if she shows up positive she mightn't have any symptoms and a positive test might hold her back for future mortages and jobs . The genitics team that i saw said that there's a 50/50 chance of a child inheriting it from a parent but someone I saw previously said that with schwannomatosis unlike neurofribromatosis it can skip a generation and that's why it's so rare. I started off as a spontanious mutation and neither of my parents or my eight siblings have it thank god for them . Have your husband had an official diagnosis of schwannomatosis ? I wish you both all the best , i'm sure we'll be in touch soon.
He had a tumor removed from his optic nerve which was sent to Australia for biopsy and the results came back as a schwan tumor and his bloods test for NF2 were negative. He doesn't have any other symptoms other than electric shock type pain in his legs and often a gripping feeling that doesn't let up. He saw a genetic counsellor with his Mum as i was only 18 when he was diagnosed and we were just newly dating, they told him the same thing that it often skips generations and that our children would unlikely have the same condition. None of his other family members have any health problems. We also spoke with 2 different specialists here in NZ where we were told by 1 it was unlikely and another told us it would be a miracle for them to have schwan. But like you said the condition is so rear and i find it hard to take anything as concrete the infomation i have found while researching is always contradictary (spelling??). Shane is also a spontaneous case. I find myself on an emotional rollercoaster at the moment, just wish there was some definite answers for us!
It took 28 years for me to be told I have Schwannomatosis!!! Here is some info on it. Schwannomatosis
Schwannomatosis is a rare form of NF that has only recently been recognized and appears to affect around 1:40,000 individuals. As with NF1 and NF2, Schwannomatosis may vary greatly between patients. Because of this, and because the population of individuals is so small and the disorder so recently characterized, these patients have until recently been hard to definitively identify; therefore the draft diagnostic criteria below will continue to evolve as more case are identified and studied.
Features of Schwannomatosis
People with Schwannomatosis develop multiple Schwannomas on cranial, spinal and peripheral nerves--but they do not develop vestibular tumors and do not go deaf. They also do not develop any other kinds of tumors (for example, meningiomas, ependymomas or astrocytomas) and do not have learning disabilities.
People with Schwannomatosis have problems with chronic pain that often exceeds their neurological problems. The first symptom of Schwannomatosis is almost always pain, which can occur in any part of the body. Many patients with Schwannomatosis go several years before the source of their pain is realized because they have few or no neurological symptoms.
About Schwannomas
Both Schwannomas and neurofibromas originate in the insulating covering of peripheral nerves called the nerve sheath. Schwannomas are very homogenous tumors consisting ONLY of nerve sheath cells or Schwann cells. They stay on the outside of the nerve, but may push it aside or against a bony structure causing damage. Neurofibromas are very heterogeneous tumors, which incorporate all sorts of cells and structural elements in addition to the Schwann cells. They infiltrate the nerve and splay apart the individual nerve fibers. Schwanamatosis patients typically do not develop malignancies, although this occurs more frequently in NF1 and NF2.
Genetics
Schwannomatosis is a genetic condition, but unlike NF1 and NF2 it does not have a clear pattern of inheritance. Schwannomatosis often skips generations so that more distant family members with unexplained neurological symptoms and/or unexplained pain should be evaluated for the possibility that they are also affected. In 2007 a candidate gene for Schwannomatosis, called INI1, was identified. Since that finding Schwannomatosis research has moved forward rapidly and evidence is emerging that the NF2 gene and possibly other genes may also be involved in causing Schwannomatosis. Genetic testing for mutations in INI1 is available, though as the role of INI1 and the potential involvement of other genes in Schwannomatosis is still being defined, there is as yet no definitive "Schwannomatosis genetic test".
Genetics Testing for Schwannomatosis
Medical Genomics Laboratory at University of Alabama, Birmingham: Genetic testing for mutations in INI1 is available, though as noted above, as well as INI1, other genes may be involved in Schwannomatosis. For more information on this, contact the Medical Genomics Laboratory at UAB, phone (205) 934-1520. More information on testing is available at the MGL website.
Hi thanks for your information but just to let you know that genetic testing is now available I had mine done in manchester england ( I live in Ireland ) and it took 10 months to come back but it showed a definate diagnosis of schwannomatosis , this test is new but it is available .
Kala have you decided about getting your daughter tested yet? I am in the middle of seeing if i can have my children tested. We live in little New Zealand so may have a long haul ahead of us to get the testing done...
Hi Nelly to b honest we can't decide In think we might wait and let her decide herself in a few years herself she's 11 now . I know that schwannomatosis skips generations and for some reason it does'nt seem to get passed down as easily as other types of nf so I'm really hoping she'll be ok . For my own peace of mind I'd love to know but I really can't decide as I said before I'm afraid of labeling her with this in case it interferes with her life later such as jobs and insurance etc . Will you get your children tested ? have you had the test yourself ?
Is there any testing available in Ohio please? Or Maryland? (USA)
I too can't travel to other countries. Thank you. Lynne
Excuse please ...what is the MGL website please?
Sorry I see that is for state of Mass. general laws. Does anyone know of either a general site for this testing or specific to Ohio or Maryland please?
The Medical Genomics Laboratory (MGL) is a CAP-certified nonprofit clinical laboratory at the University of Alabama at Birmingham, offering comprehensive testing for common and rare genetic disorders. The MGL specializes in testing for all forms of the neurofibromatoses, including NF1, Legius syndrome (SPRED1 disorder; NF1-like syndrome), segmental NF, NF-Noonan, spinal NF, Watson syndrome, NF2, and schwannomatosis. www.genetics.uab.edu/medgenomics/
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