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Possible NF1 in 10 yr old
My 10 yr old is being evaluated for Nf.She has aqueductal stenosis,which was found thru MRI investigating headaches. She has the large head circumference and mild scoliosios.The dermatologist quit counting her CALS at 8,those are the largest measuring at 2cm and more. She started developing breasts at 7 yrs old and has started her period. She has Sever's in both feet and ankles, not an athlete.
Father is going to Opth to check for Lisch.He has referral for dermatology as he has CALs and maybe freckling under arm. His family also has many cases of Fragile X syndrome which we have now been told he might be a premutation carrier.2 siblings and 2 nephews.
I have 3 brain lesions , am on Keppra for PC seizures. I only have 4 CALs that I can see, but had a GCT of the femur which resulted in above the knee "resection" with a limb salvage prosthesis. I am allergic to the metals in my prosthesis but to replace it with Titanium only would be a huge undertaking.I have mild scoliosis also. I had what was thought to be a TIA but dr feels was a seizure. EEGs WNLs I asked my neurologist if it couldn't be the reason for all my neurological symptoms, but she said no. I also was diagnosed with Hashimotos this summer with high antibodies, some low positive ANAs and high CRP. MS or Lupus have not been totally ruled out.I also have VII cranial nerve hemifacial spasms with tinnitus.
We go to a genetics dr after my husband has his appts.
Is all this enough for a diagnosis and would it explain any of my symptoms. Could our daughter be diagnosed with no family history?
Thank You,
Bonn
Father is going to Opth to check for Lisch.He has referral for dermatology as he has CALs and maybe freckling under arm. His family also has many cases of Fragile X syndrome which we have now been told he might be a premutation carrier.2 siblings and 2 nephews.
I have 3 brain lesions , am on Keppra for PC seizures. I only have 4 CALs that I can see, but had a GCT of the femur which resulted in above the knee "resection" with a limb salvage prosthesis. I am allergic to the metals in my prosthesis but to replace it with Titanium only would be a huge undertaking.I have mild scoliosis also. I had what was thought to be a TIA but dr feels was a seizure. EEGs WNLs I asked my neurologist if it couldn't be the reason for all my neurological symptoms, but she said no. I also was diagnosed with Hashimotos this summer with high antibodies, some low positive ANAs and high CRP. MS or Lupus have not been totally ruled out.I also have VII cranial nerve hemifacial spasms with tinnitus.
We go to a genetics dr after my husband has his appts.
Is all this enough for a diagnosis and would it explain any of my symptoms. Could our daughter be diagnosed with no family history?
Thank You,
Bonn
Neurofibromatosis does not explain your symptoms. Based on the information you provided, I would suspect that your daughter has NF1, but she does not meet the criteria for diagnosis at this point. If you or your husband are found to have NF1, then she would meet the criteria. Regarding the relationship between NF1 and Fragile X, there is none. They are both genetic disorders, but the genetic defects are on two different chromosomes.
If you or your husband do not have NF, your daughter could still be diagnosed if she were to develop the other crtieria. NF1 is a dominant genetic disorder which is usually caused by passing on genes, however individuals can have spontaneous mutations which result in NF1. I hope this helps. Good luck.
If you or your husband do not have NF, your daughter could still be diagnosed if she were to develop the other crtieria. NF1 is a dominant genetic disorder which is usually caused by passing on genes, however individuals can have spontaneous mutations which result in NF1. I hope this helps. Good luck.
Thanks for the quick reply. I guess that the genetics dr will be able to provide us with a lot of information and resources. We are just waiting til my husband gets his appts as it will make diagnosing our daughter easier.
Bonnie
Bonnie
Hi Kim,
Yes I have found the BB at NNFF to be a great source of info! I wanted to see what the neuro dr thought of all the things going on with both myself and my daughter. I would love to find a cause of all my symptoms as well. As i sit here the phantom smell of smoke is driving me crazy. I would almost prefer to smell anything else. It is with me night and day. The sizure meds I am on seem to help somewhat.
She just fell down the stairs, usually at least once day, and I am tired of the ped neuro she sees wait and see attitude. The pain in her feet and legs is getting worse and now she says her arm is hurting. I have to take her to the dr tomorrow as her lymphs in neck are swollen and she has a sore throat. I thought it was just her allergies so I waited to take her in. She takes medication for allergies every day, no break.
I have posted a few things and questions over there. It seems like right now it's just wait and see what her father 's exams show and see the gentics dr. Poor Mary, I told my husband if she has NF1 and is a carrier of Fragile X she might decide to never have children. I know I think I would have to think long and hard about it.
Take care,
Bonnie
Yes I have found the BB at NNFF to be a great source of info! I wanted to see what the neuro dr thought of all the things going on with both myself and my daughter. I would love to find a cause of all my symptoms as well. As i sit here the phantom smell of smoke is driving me crazy. I would almost prefer to smell anything else. It is with me night and day. The sizure meds I am on seem to help somewhat.
She just fell down the stairs, usually at least once day, and I am tired of the ped neuro she sees wait and see attitude. The pain in her feet and legs is getting worse and now she says her arm is hurting. I have to take her to the dr tomorrow as her lymphs in neck are swollen and she has a sore throat. I thought it was just her allergies so I waited to take her in. She takes medication for allergies every day, no break.
I have posted a few things and questions over there. It seems like right now it's just wait and see what her father 's exams show and see the gentics dr. Poor Mary, I told my husband if she has NF1 and is a carrier of Fragile X she might decide to never have children. I know I think I would have to think long and hard about it.
Take care,
Bonnie
Hi~my 5 yr old is being watched for NF. The National Neurofibromatosis Association has a great web site w/ lots of info. From my research and what I have been told by our genetic dr. that NF is not a textbook condition. People have many forms of NF from mild to severe. The NF asscoiation also sent me some great info through the mail. Good Luck and I hope this helps! Kim
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