Neurofibromatosis

[Kitt3n]

Hi all, really not sure whre to post this thread.
A friend of mine and her partner are looking to start going throught the IVF process as he has NF, and they dont want to pass this on to the baby (apparently if they go natural there is a 50/50 chance). I didnt realise the extent as to how horrible this can be until i just looked on google images.
I would like to help her find any personal stories of anyone else who has gone through the IVF process for a specific reason such as this, is there anyone out there who has had to endure this?
I am sorry to bring this up if it does upset anyone, i just hope youcan understand how much you will help a young lady who is basically in the dark.

[Chuppy]

Hi there,

Don't know if you are still after info on this. I have NF type 1 with only some minor symptoms (nothing like the sites google search brings up!!) When we wanted to have a baby I contacted the NF society and they put me in touch with a specialist in Sydney, though she never called me back. I then went for genetic counselling in Melbourne and was told that any child we would have would have a 50-50 chance of having NF, but would only have a 5% chance of having it worse than me. We were also told that as they have identified the gene that NF is carried on, you can have genetic testing of the embryo. However, I was told that that process takes ages and is very expensive.

So, given that I haven't really been affected, we decided to take our chances and skip the genetic testing of embryos. Our daughter is now 5mo and is displaying the first symptoms of NF. Since having her, I have been told that her chances of having a severe case of NF are minimal, but there is still that small chance. So, given that, I would be interested if you could tell me what your friend finds out and if there is an easier way to have a baby without NF!

[Kitt3n]

Hi Chuppy,

I am sorry hear that you too are having to go through this. I hope your little one ends up only slightly affected

My friend is definately going with the IVF - they dont want to take the chance. It will cost $10-$15k. I really hope they manage to get alot of eggs and healthy embies and that they are sticky.

Otherwise they will have to find the money again for round 2.

Sorry I dont have any better info

[HotI]

So, given that, I would be interested if you could tell me what your friend finds out and if there is an easier way to have a baby without NF!

There are basically three options when having a child if you have a genetic condition that can be passed on.

You can conceive the traditional way, and continue the pregnancy as usual, and let what happens happens.

You can conceive the traditional way, and have prenatal testing (CVS or amnio) if there is a genetic test available and then decide whether to continue the pregnancy if the baby is found to carry the condition.

You can conceive through IVF and have PGD (Pre-implantation Genetic Diagnosis) and implant the embryos that do not carry the condition. The egg and sperm are combined in the lab and grown to 8 cell stage. One cell is removed and tested for the condition.

None of these options are easy, and each has its own pros and cons. If you want more info, a genetics service can explain the options particular to your case.