At Mayo Clinic, the Neurofibromatosis Clinic would work with schwannomatosis. What I learned is that if a child shows signs or symptoms, then they would look at doing testing.
If you'd be interested in an appointment in the future, here is a link from which you may arrange that: mayocl.in/1mtmR63.
How did you come to be interested in genetic testing available for the children of schwannomatosis patients who show no symptoms? Is this something that affects you or a loved one?
At Mayo Clinic, the Neurofibromatosis Clinic would work with schwannomatosis. What I learned is that if a child shows signs or symptoms, then they would look at doing testing.
If you'd be interested in an appointment in the future, here is a link from which you may arrange that: mayocl.in/1mtmR63.
How did you come to be interested in genetic testing available for the children of schwannomatosis patients who show no symptoms? Is this something that affects you or a loved one?
Thank you so much for the information! Yes a sort of step daughter's mother has this condition as well as her aunt. She and her father are always on edge when ever there is a back ache or a little bump on her hand. I was just thinking that if there was a test to find out if she has the gene, then it may ease the constant worrying of the unknown. Then again, knowing at a young age, 20 , may not be so great either. Her mother was diagnosed in her 30's. But if there have been some advances to this condition and early detection is a plus then maybe
going through a genetic test , if there is one, would be a good idea. Thoughts?
Lisa Lucier, Moderator | @lisalucier | Oct 4, 2018
@troyanos99 - I am a mom, and I can imagine that it would put you on edge if your child had aches or bumps and you were worrying about the possibilities with a potentially inherited condition in the family.
What I'd like to do is to introduce you to some other members on Connect who have talked about schwannomatosis. I'm hoping @pkindron@painwarrior@nfrunner will return and offer some insights on the situation of wondering and dealing with worry about whether a child will inherit the condition, as well as looking into genetic testing. @meli58 @jontanmay @cynaburst and @dawn_giacabazi may also have some input.
Was anything found with the CAT scan and spinal X-ray done this week due to her neck pain?
Glad to hear her results were negative. If you'd like to set up an appointment to talk about screening or genetic testing, I'd suggest contacting Mayo Clinic appointments through one of the means at this link: mayocl.in/1mtmR63.
Hello Lisa,
Before we make that decision, is there such a thing as screening or genetic testing for this condition? I am not clear on that yet. We are in California, are there locations in our area?
Thanks for your help!
Maria
Hello Lisa,
Before we make that decision, is there such a thing as screening or genetic testing for this condition? I am not clear on that yet. We are in California, are there locations in our area?
Thanks for your help!
Maria
Hi @troyanos99 -- I appreciate your question. If I were to travel from California across the country for a medical consult, I'd also like more specifics on what was available. What I was told is that if a child shows signs or symptoms, then they would look at doing testing.
As a moderator on Mayo Clinic Connect, I am not a medical professional. I'd highly suggest you make contact with Mayo Clinic through the link I posted, and then you can discuss further. The closest location to you would be Mayo Clinic's campus in Arizona.
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Hi, @troyanos99 - welcome to Mayo Clinic Connect.
At Mayo Clinic, the Neurofibromatosis Clinic would work with schwannomatosis. What I learned is that if a child shows signs or symptoms, then they would look at doing testing.
This is some information on Mayo Clinic and neurofibromatosis: https://www.mayoclinic.org/diseases-conditions/neurofibromatosis/symptoms-causes/syc-20350490.
You might also be interested in this article, which is about a boy affected by neurofibromatosis who has been seen at Mayo Clinic: https://news.mayocliniclabs.com/2018/01/18/genetic-tests-coordinated-care-research-provide-hope-patients-genetic-neurological-disease/. You'll note that the head of Mayo Clinic’s Neurofibromatosis Clinic is also mentioned in this article.
If you'd be interested in an appointment in the future, here is a link from which you may arrange that: mayocl.in/1mtmR63.
How did you come to be interested in genetic testing available for the children of schwannomatosis patients who show no symptoms? Is this something that affects you or a loved one?
Thank you so much for the information! Yes a sort of step daughter's mother has this condition as well as her aunt. She and her father are always on edge when ever there is a back ache or a little bump on her hand. I was just thinking that if there was a test to find out if she has the gene, then it may ease the constant worrying of the unknown. Then again, knowing at a young age, 20 , may not be so great either. Her mother was diagnosed in her 30's. But if there have been some advances to this condition and early detection is a plus then maybe
going through a genetic test , if there is one, would be a good idea. Thoughts?
Just to update you, she saw a sports doctor who ordered at CAT scan and spinal xray this week. This was all because her neck hurt.
@troyanos99 - I am a mom, and I can imagine that it would put you on edge if your child had aches or bumps and you were worrying about the possibilities with a potentially inherited condition in the family.
What I'd like to do is to introduce you to some other members on Connect who have talked about schwannomatosis. I'm hoping @pkindron @painwarrior @nfrunner will return and offer some insights on the situation of wondering and dealing with worry about whether a child will inherit the condition, as well as looking into genetic testing. @meli58 @jontanmay @cynaburst and @dawn_giacabazi may also have some input.
Was anything found with the CAT scan and spinal X-ray done this week due to her neck pain?
Great! I appreciated that. The results were negative, nothing there. Would love to get more info on the possibility of a genetic test or screening.
Glad to hear her results were negative. If you'd like to set up an appointment to talk about screening or genetic testing, I'd suggest contacting Mayo Clinic appointments through one of the means at this link: mayocl.in/1mtmR63.
Hello Lisa,
Before we make that decision, is there such a thing as screening or genetic testing for this condition? I am not clear on that yet. We are in California, are there locations in our area?
Thanks for your help!
Maria
...as I re-read your first email to me, would she need to show symptoms first before any testing or screening can be done?
Hi @troyanos99 -- I appreciate your question. If I were to travel from California across the country for a medical consult, I'd also like more specifics on what was available. What I was told is that if a child shows signs or symptoms, then they would look at doing testing.
As a moderator on Mayo Clinic Connect, I am not a medical professional. I'd highly suggest you make contact with Mayo Clinic through the link I posted, and then you can discuss further. The closest location to you would be Mayo Clinic's campus in Arizona.
Thanks you so much for your help!
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