Baby girl diagnosed with epilepsy, maybe also has neurofibromatosis?

Welcome to Connect @jontan.
I'm tagging @irvkay312 @kevinkelley @sarahv to bring them into this conversation. Kay and Kevin have lived most of their lives with epilepsy and Sarah has a young son with epilepsy.

You may also be interested in this recent video by Nicholas Wetjen, M.D., a Mayo Clinic pediatric neurosurgeon, where he speaks about epilepsy and surgery. https://connect.mayoclinic.org/discussion/what-is-epilepsy-surgery/

@pkglitter has a grandchild with NF1 and @nfrunner work in NF advocacy. By tagging them on this conversation, I hope they will return to Connect to share experiences and information with you.

Jon, have you spoken to you daughter's doctor about your suspicions of neurofibromatosis?

Hello, as a person with a form of NF, I agree that café au lait spots are considered the first and most common indication of NF. I think the criteria says 7 or more spots. Since you both have spots, that would be something to definitely talk and show to your doctor. NF can be inherited (50%) or spontaneous. I belong to a Facebook group called NF Mom's Rock and I recall posts about NF and epilepsy - others asking the same question as yours - is NF and epilepsy related?
I don't know the answer but genetics could help you with that, too. I understand and share the feeling that NF alone is enough. While they talked of their children with NF and epilepsy, I don't recall anyone citing any confirmed medical conclusion. I am glad to read that there is help for her seizures, little doll.

Thanks so much for the reply. Regards the nf1.
With regards to further tests we have carried out the following and obtained the following results: -

EGG - Sibclinical seizure
MRI - Negative
CT Scan - negative
Blood test - Negative
ECG - OK
X-RAY: OK
URINE - ok

Just these weeks, we have notice a few form of minor and subtle seizures.

Would like to seek advice on the following: -

1) was told that if stay seizure free for 2 years, she van slowly tail off her medication. How as parents can we help her grow our off seizure

2) will she grow out of it?

3) as nf1 is a progressive disorder, is this linked with her epilepsy?

Thanks

Unfortunately, I disagree. I've had Tuberous Sclerosis since the age of 13<br>(and am now 77). It comes in many forms and is still not fully<br>understood. One way to note my doctors tests in past years was not Ash<br>Leaf spots, or even Shagreen patches, but rather "the small tuberous<br>growths that became prominate at/on my finger nails and toe nails." Those<br>tubers always returned after their removal which first subjected my<br>diagnosis "to Woods lamp), from that point we knew what was.<br><br>Withe the progression of time and growth, ridges became evident on my<br>finger nails and toe nails. These would often be the spots that the tubers<br>would grow into. When they'ed get hit, they would also bleed. As noted<br>above and as outright off base as it sounds, "in my younger years I<br>purchased a small woodburnig tool." Adenoma Sabacum, normally seen on ones<br>face and nose, "I literally burned off and cauterized one by one." Those<br>growths came back, which told me it was Tuberous Sclerosis.<br><br>My concern per my epilepsy, has been to control the electrical impulses of<br>the brain, thereby keeping the electrical elements from getting out of<br>control, or hitting a suseptable area of my brain. My epilepsy did not<br>begin "as a part of Tuberous Sclerosis, but due to a brain injury caused by<br>the use of forceps during my delivery--causing pressure on the brain and<br>its trail during my life."<br><br><br>Sincerely,<br><br>Kay<br>

Hi,<br><br>I have had epilepsy since birth, due to forceps use that caused pressure on<br>the brain and Grand Mal seizures. At this stage of life, your child is<br>growing as are her many systems. One thing I would try to do in the<br>confines of her home "is keep her away from items that can trigger<br>(initiate) seizures." Things like noise, bright lights, excitement and<br>even stages of depression, by being alone and not feel the love of ones<br>family. One with epilepsy, will often fall into a conscious or sub<br>conscious state of depression; since the seizure instances show, tell and<br>give them the feeling of being different from others--since they don't know<br>when such will strike again."<br><br>I'd work closely with the Epileptologist or Neurologist regarding tests and<br>diagnosis, as well as medications that can "eat the Calcium of the<br>bone--such as Phentoin and Dilantin.<br><br>Good luck.<br><br>Kay<br>

@jontan, I just found this article about NF1 and epilepsy from the Epilepsy Foundation http://www.epilepsy.com/learn/types-epilepsy-syndromes/neurocutaneous-syndromes/neurofibromatosis-type-1

What type of epilepsy does your daughter have?

started if with atonic seizures, with jerking of the arms (generalized).
At times now with the medication we still notice some forms of absence seizures and simple partial seizures...

I was told that to ensure her learning development is not affected, her seizures have to stop,,,,