PGD when you're the carrier of an extremely rare genetic disorder

[2girlz]

I am looking for help, advise and experience stories with PGD when there is a rare genetic disorder in the family. I DO NOT want or need judgement!!!!!!
I found out when I was pregnant with my second daughter that I am the carrier of a rare genetic disorder called Aarskog syndrome. It's an x recessive syndrome where Girls are carriers and boys are affected by the syndrome. Girls have a 25% chance of being carriers and boys a 50% chance of having the syndrome so very high odds. I now have a new partner and would love to have another baby with him but I am terrified of conceiving a child that has the disorder. I researched PGD and IVF and it looks like they only test for certain more common disorders. I understand that I will have to get tested and we will need my dad (who has the syndrome) to be tested as well to discover the faulty genes. I am wondering if it can be done with such a rare disorder and if anyone on here has been through it.
Thank you

[LionsandBears]

I haven't been through it. My first son died from a genetic disorder that I am a carrier of. In our case, it may have been spontaneous. We looked into IVF PGD, but they weren't able to offer it to us based on our own genetic make-up.

if the geneticists can identify the defective gene in yourself, then they may be able to do single gene pGD. It's different to just looking at the 23 chromosomes. They test each embryo for the single gene and in many cases, can identify which ones are affected or carriers. There has been a lot of success with other x-linked conditions like brittle bone or haemophilia.

If they know the gene sequence of a disease, they may be able to do PGD. If it hasn't been identified, then they won't be able to.

we were looking at Monash. The process is they first see if they can develop the probe in a feasibility study. This can take months. They then develop the probe for the single gene. You undergo 1 or more IVF cycles to get a decent number of embryos to test (6-10, I think). After testing, if any are viable, you undergo a FET cycle.

from memory, a single gene testing cycle was going to be an extra $6500 on top of normal IVF costs. The feasibility may be about $2000. You need to have counselling with a geneticist and genetic counsellor to find out if it's possible and what's involved.

ETA - you may find it helpful to chat to the ladies in the IVF PGD thread:
https://www.bellybelly.com.au/forums...ml#post3345900

[Sagres]

I have some information on this but I am only a short way through the process so don't have the full story yet.

I (and my 2 DC) are currently being tested for a rare syndrome that our geneticist thinks we have. This has involved sending blood samples to a lab overseas to see if we have the defective bit associated with that syndrome. If that is confirmed then we know I have a 50% chance of passing it on to my children (which I have passed 'it' - what ever 'it' is - on twice, both conceived before we knew I had something, didn't do very well with that lottery) and our geneticist has said that if we want to have any more children that we will be able to do PGD. Based on the results from the overseas lab a more local lab will be able to do the testing associated with the PGD.

All this (and what ever comes next) has come out of a genetic counselling process which is what you would need to do to get the answers for your specific syndrome. We got a referral from the girls paed to see the genetics team at our main public hospital and everything else kicked off from there. I don't really understand the in and outs of genetics but I think it does vary a lot and new things are being discovered all the time so you would probably need to get the most up to date information from a geneticist.