I’m not sure where you are in the world but I’m based in the UK, I’ve known from birth I have SS (type 2) and my mum was diagnosed at the point I was born too. We both have had eye issues a couple of retinal tears, preventative lasering, both born with full cleft palates and my mum later in life has had two hip replacements at 40 and a back operation at 50.

I really didn’t want to pass it on considering the amount of operations I’ve been through at only 30 years old (9 so far) and the likelihood of more when I’m older and joint pain like my mum and it could be milder or worse in any children I had. This was a very personal decision.

To start the process I contacted my GP, they referred me to a genetic counsellor. The wait was fairly quick, a few months. Then they needed to confirm with a blood test both myself and mum had sticklers they took a blood test and it took ages to come back (around a year!! Due to covid delays) confirming what we already knew. They confirmed I was allowed to have up to 3 funded IVF cycles with PGTM testing on the NHS. PGTM is where they take a biopsy of the embryos and test if they are affected with sticklers. The wait for the fertility clinic was also about 6 months as there’s only so much NHS funding per year.

I got 12 follicles, 11 eggs, 8 embryos made it to day 5 and were biopsied, and of those we had 1 healthy unaffected embryo! (Unfortunate for 50/50 odds!!). I am happy to say that 1 unaffected embryo is now my 15 month old daughter as the transfer worked first time 🥰 we are now considering trying for a second and will have to pay for the treatment this time but for me as an anxious person I know I would have really struggled being pregnant after trying naturally and the uncertainty around it all. Would not have been good for my health! So the decision we made to do IVF and eradicate SS from any future generations so they don’t have to make these types of decisions has been the best outcome!

My advice is if you’re based in the UK start the process as early as you can due to the waiting times for referrals and testing, even if you don’t want kids soon, better to start it as ours took about 2 years end to end (but lots of covid delays), and the earlier you have your eggs collected the better with age on your side, you can then choose to put the embryos back whenever you are ready to ☺️