Epilepsy Foundation

EFMR - New genetic testing for Epilepsy restricted in Females with Mental Retardation

Hello e-community...I'm posting this a 2nd time in hopes that someone out there might also have a daughter diagnosed with EFMR. My 5 1/2 year old daughter just underwent genetic testing in Boston and tested positive for a mutation of PCDH19. This PCDH19 gene was only discovered in 2008, and evidently this is the first definitive test available for EFMR. Even though the EMFR diagnosis has been around for 10+ years. It also poses a perplexing scenario for genetists because it's inherited through the X chromosome, and only effects girls. The Y chromosome in Men seems to protect against the mutation manifestations, which is the oppositve from what is usually seen in this type of inherited mutation. Very little is out there on EFMR, and they think that it is very under diagnosed. My husband and I have scoured the internet to no avail - does anyone out there know anything about it? The symptoms of EMFR are hard to controll seizure onset in girls in early childhood or infancy, developmental delays and often significant cognitive impairment and often have autistic features. Our daughter has reletively well controlled seizures, tonic clonic w/clusters every 4 weeks to 10 months. She's on a lot of meds. She is verbal and talks a lot, but doesn't say very complicated things. She is also physically active, although pretty clumsy and very easily distracted. Thanks for listening and hope to connect with anyone else also looking for answers.

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Did your neuro initiate this testing, or did you? I'm curious as my dd sees a neuro at CHB but has not mentioned it. Also, does testing positive for a genetic mutation change treatment protocols? If it doesn't, I'm ok without knowing. Thanks for the info!

Laura
Elizabeth, don't know anything about this, but I did want to welcome you to the forums! You have definitely found an awesome place with truly caring and supportive people!

Keep us updated when you can and know we are here for you!

Hugs,
Donna
*heart/rose*
Our Neuro suggested doing the genetic testing, as she suspected that there was an underlying reason w/our dd's case. We used to be at CHB, but just switched after being repeatedly dissapointed w/our previous Nero's lack of initiatve and concern about development issues. I don't believe that treatment will change - treat the szrs and fight for the development. There's very little known about the condition right now, but I hope that more research will help for the future. Good luck!.
Our 3 year old was just diagnosed yesterday!! I would love to connect with you. Please respond and we can share more details. I am so happy I found someone else who shares this diagnosis. I have a million questions.
Hello!!! Good morning to all. My name is Denise, mom to Amanda. It's been a very long time for her, for us...Amanda is now 19 years old, she was recently tested in Boston and the results were positive for pcdh19 mutation. I'm one of those people who NEED an answer, 18 1/2 years later...
I was glad to finally have an answer too, now comes the but!!!!
There is so little information out here, WE need BIGGER BETTER MORE. I've connected with Elizabeth, connections are so important. Amanda and I were recently invited to attend a meeting of the Boston Society of Neurologists and Psychiatrists, her wonderful neurologist was speaking and we were part of his presentation. He was speaking about autism, part of her diagnosis. Part. In closing he mentioned the latest news, the pcdh19...I think it is safe to say it was "news" to most all attending. My thinking was and is that one of the doctors we've seen over these years (at least the last 10) would have come up with EMFR, they didn't. Much to learn, much.

Lulusmom said:
Our 3 year old was just diagnosed yesterday!! I would love to connect with you. Please respond and we can share more details. I am so happy I found someone else who shares this diagnosis. I have a million questions.
Our daughter, 17 months, recently tested positive as well. Our Neuro told us that the range of cognitive development is very wide, so we are hopeful that she will develop some speech, although delayed. She is currently taking topamax to control the seizures.
Wow, I'm so glad you've been able to find some other parents here! I am one of those out there who think positive identification for our children is so helpful - it can go a long way in helping the medical community then know that there is a reason to continue researching. Even if at the moment there isn't any treatment - kwim?

My dd has a very rare disorder as well. Amazingly there is medication for her disorder, although it wont make her "normal". The treatment has helped us control the szs.

Good for you for searching.
Welcome : )
Hi Elizabeth - just letting you know I have posted a request on 'my' home E forum (here in Australia) to see if I can find anyone for you. (It's not my forum, of course, but I started off there, so it's kinda my home, if you kwim ;)
Hoping we can find you some other parents to hook up with - if they reply, I will send them over here.
I have never heard of this!

I am of the mindset that KNOWING- even when it doesn't always change treatment protocol- is almost always better than not knowing. Because who knows when it potentially could make a vital difference when more is learned and possibly new treatments become available? Not to mention the peace of mind that can come with finally finding out WHAT is going on.

Based on how you describe the symptoms and how new the genetic test is, I would not be surprised at all if it is very under-diagnosed. I very much doubt if Emily has this (we have a strong family hx of epilepsy) but the symptoms, as you describe them here, fit her to a T. However, as I said above... even if NOW children with genetic disorders causing seizures don't have any different treatment options available to them, I do feel knowing the dx is important. The more that know, a body of information can start to be gathered on particular syndromes/disorders, what meds & therapies work and what don't; and hopefully eventually meds/treatments tailored toward addressing gene mutations will be out there someday (this is my hope for Emily in regards to her other genetic dx.)

I wish the very best for all the girls dx'ed with this, for both good sz control and just as much, good developmental progress.
This piqued my interest... some links for anyone wanting to do some more reading about this. :)

Researchers discover link between PCDH19 gene and EFMR epilepsy in ... That article has some good information in it, and makes the point that this gene may also be involved in other forms of epilepsy.

ncbi site; Detailed case histories & genetics involved

Another interesting abstract
HI Julie,

Thanks for responding and I'm glad to connect with another parent dealing with the same diagnosis. Where did you have the testing done? I'd love to learn more about you and your daughters situation.

My daughter, Evelyn, is 6 years old now and funny, happy and full of love. She is significantly delayed but continues to make progress and is very verbal and active. She is a joy and we have much optimism (tempered with realistic expectations) for her future despite the diagnosis. Take care - Elizabeth

Julie said:
Our daughter, 17 months, recently tested positive as well. Our Neuro told us that the range of cognitive development is very wide, so we are hopeful that she will develop some speech, although delayed. She is currently taking topamax to control the seizures.
This is very interesting,since I have been trying to find out what deletion of chromozone 11p means. I still don't understand it very well. They tested us for this a month ago,but could take another month before we know our test results.

Katie she don't talk yet she just makes sounds,but nothing you can understand. She has said daaa and maaa a few times but very few.

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