Testing and fertility options

[Ashes07]

Hello!  Can anyone give me a heads up on what to expect at our upcoming geneticist appointment?  We go on Sept. 27th.  I'm assuming we won't get a definitive answer right away....but I really have no idea what to expect as to how this testing will be completed and/or how long it will take.  Our doctors are strongly suspecting a diagnosis of NF2.......my husband (29...I'm 27) had a 4 cm x 3.3 cm x 3.5 cm R AN removed (successfully) this past July and a possible 2 mm AN was noted on the L as well as a "spot" on the brain stem.  Our spinal MRI was negative.  He doesn't have a family history of NF2 that we know of....so the spontaneous mutation is likely.  We were wanting to start a family, but are obviously putting that on hold.  We've done some limited research on fertility options for people with NF2....and haven't found many.  Am also wondering if anyone has any experience in this area.  Thanks in advance for any help!!! 

[Jim Scott]

Hi, and welcome ~

I'm not a doctor or an NF2 patient but to the best of my knowledge only one parent has to have the NF2 gene to pass it on to a child they have a part in conceiving.  I don't believe NF2 causes big problems in conception itself but again, I'm not an expert by any means.  Fortunately, we have members, one a retired nurse, that have NF2 and are very knowledgeable about the various aspects of this condition.  I'm sure you'll receive answers to your questions.  Of course, assuming a through knowledge of NF2, your doctor is your best source of information.

Jim

[Cheryl R]

Hello and sounds like your husband has a good chance of having NF2.    I also had no family history of NF2.    I am the retired nurse that Jim spoke of.      My AN on the other side did not show up until between 2-3 yrs past finding my first AN.     I was 49 with the first AN surgery so older onset and not the typical ANer.     I have been told our grown daughters have a 50-50 chance of having NF2.       More likely close to the age I was when mine was found.       So far they are in their 30's and no symptoms.   One has had a MRI with none seen.
  There is Jeff also on the forum who has had children with his NF2 and hopefully will answer also.    He has the family history of NF2.
Let us know what you find out.      I have heard the blood test for it is not always accurate.             Not fun to have to be confronted with this when you are young.                           Cheryl R

[Raven]

I'm NF2, we have two boys ages 18 & 14. There was no history of anybody in my family that had NF2. We talked about getting the boys tested but never did, IIRC genetic testing is about 60% accurate. I got diagnosed 5 years ago, so of course we had no idea I was NF2 19 years ago when we decided to have kids.

I was in denail about having NF2 even though I had bilaterall ANs, the MRI of my spine showed 5 tumors, so that sealed the deal. No tumors on your husband's spine may be a good sign, good luck and keep us posted.

John

[BlueSky]

Hi Ashes,
I'm on my lunch break so I don't have time to search the internet for a blog post I had seen, but in a nut shell the the man in the couple had NF2. They knew that their potential offspring would have a 50% of having NF2 so they went the fertility route which was basically having her eggs be fertilized with his sperm and then doing genetic testing on the embryos to only implant the ones that were negative for NF2 and they conceived a child this way. I think there was two fertility labs in the country that could do this kind of testing on fertilized eggs, but don't quote me because it's been a couple of months since I've seen the blog post!

[BlueSky]

Still can't find the blog post I mentioned but here is one of the genetic fertility labs that test for NF2 if your thinking about the IVF route, look under the PGD tab and it will show the tests they do.

http://www.genesisgenetics.com/testing.html

Also you might want to look at the forums on the Neurofibromatosis Network. This subject comes up alot! Wish you the best.

[Ashes07]

Thank you all so much for the information.  I had heard a little about IVF with NF2, but couldn't find much info....that website helped a ton!  The forums are really helpful.  It's comforting to know that there are places we can turn to for information and support.  My husband and I have tried to have conversations regarding what to do if he is diagnosed with NF2....go ahead a have kids, adopt, IVF, just forget it......but it's such a hard decision.  Will keep you posted on the results from our testing - counting down the days.  I'm so thankful for this discussion board....thank you again for all of your input!

[Ashes07]

Well, we finally got our test results back.....took forever. My husband was diagnosed with NF2, but is mosaic. From what I've read and have been told by our genetic counselor, this is a good thing as there is a good possibility this is "better news" as his symptoms and the progression of the disorder may not be as bad. Also, the chance of it being passed on to our children is less than 50%, but there's no way to tell the risk exactly.

Long story short....this sucks.

Looking in to the IVF/PGD route. Tried to get more info from our counselor, but she was no help. Have to make more doctor appointments for me to get more info. Anybody know of good clinics in or near Indiana??

Shopping for Christmas at the moment.....hope everyone had a ha

[Ashes07]

Happy Thanksgiving! Post got cut short.

[leapyrtwins]

I know of a fabulous infertility doctor in Illinois - Chicago area; genetic testing, if necessary, is part of what his practice does.

If you're interested PM or email me (my email address is in my profile).

Jan

[Susan A]

Ashes,
when I was diagnosed with ring 22, the genetic counselor offered IVF with pre-implantation genetic testing if we wanted it. I never got as far as checking with the insurance company to see if they would cover it though.
My guess is if you want to go that route, having your husband's genetic testing will help because they will know what they're looking for.
Hope you had a good Thanksgiving!
Susan

[nftwoed]

Hello;

  Would say the parent ( either ) whom has a one time mutated defective gene( every human has an NF-2 gene ), and that is the parent the embryo receives the gene from, neither parent or embryo/child has full blown NF-2 until a second, spontaneous, de novo mutation occurs. This may occur at conception, or any time in life. I think conception is the most common time for a de novo to mutation occur, however.
  To my knowledge, parental blood tests are still about 60% accurate. Aminocentesis may be about 70% accurate.

Hi, and welcome ~

I'm not a doctor or an NF2 patient but to the best of my knowledge only one parent has to have the NF2 gene to pass it on to a child they have a part in conceiving.  I don't believe NF2 causes big problems in conception itself but again, I'm not an expert by any means.  Fortunately, we have members, one a retired nurse, that have NF2 and are very knowledgeable about the various aspects of this condition.  I'm sure you'll receive answers to your questions.  Of course, assuming a through knowledge of NF2, your doctor is your best source of information.

Jim

[Ashes07]

Thank you so much everyone for your input and help! Contacted a couple of fertility clinics and unfortunately our insurance wouldn't cover anything past the diagnostics....and this stuff is expensive!! Wasn't quite prepared for a few of the numbers thrown out! Going to take some time to think it over and weigh our options.

In other news, our first post-op MRI results indicated that they did get the entire tumor on the right with everything looking great; and the tumor on the left is unchanged - less than 4 mm in size.  We were thrilled to hear the word "stable"!!!

Happy Holidays!!!

[Susan A]

Stable is good :-) Glad to hear they got the entire tumor on the right!
Having to deal with what the insurance will cover is a pain - it's frustrating to know that there might be options out there that aren't really options because of the cost :-(