It's been 4 days since I received the results to my own genetic testing and for those who don't know, unfortunately I did test positive and I have inherited the C9ORF72 gene mutation. I posted a 12-minute video that explains my thought process throughout the morning, followed by an update once I received the news. I filmed this as I know there are many people who read my blog and are considering going on the same journey. Disclaimer - I really rambled through parts of this. I did consider cutting parts but thought f*ck it, I want to be real. Here's the video for those who haven't seen it already on my social media:
I think now is the perfect time to explain why I decided to find out. Firstly, I am just one of those people who would rather know. I don't want to find out when it's already happened so for that reason alone, I knew it was right for me.
Secondly, I'm hoping to have a baby. Whilst I already have two amazing step-kids who are a massive part of my family, I want to experience being pregnant myself and I want to bring a baby Jess & Gregg into the world.
These results have really given us something to think about. Now we're aware I have a serious genetic condition, the risk continues and there's a 50/50 chance our child will also inherit the mutation. As I've already said, this condition is serious and at present, there is no cure or treatment. Whilst I'm hopeful that research will find therapy in the future, it's not definitive and I'm worried about the future my child will have if I were to conceive naturally. We have four options available to us now I've received my results:
Have a baby anyway and take the chance. We each have 2 versions of every gene so I'll either give my baby the healthy version of C9ORF72, or the dodgy mutated one which will give my child FTD in the future. It's complete luck.
Have a baby anyway but perform a genetic test during pregnancy to see whether the developing baby carries the gene. This is called prenatal testing and whilst I understand the reasons why some would take this route, I personally would not. Prenatal testing can only be performed when a couple feels certain they would terminate the pregnancy if the baby carried the gene, and this decision has to be made before you have the test. The reason for this is that testing a pregnancy, but not going ahead with a termination after a positive test result, would take away the child’s right to choose whether to have the genetic test later in life. I'm not sure I could go through with a termination which excludes me from taking this option.
Go down the pre-implantation genetics diagnosis (PGD) route. It is a way of having a dodgy gene-free kid without having to think about terminating a pregnancy. It’s more complicated than prenatal testing and it can be a long and stressful process. PGD involves using eggs and sperm to create embryos in a lab, then performing the genetic test on the embryos, and putting only the negative embryos back into the womb. PGD is done as part of IVF treatment and is always a time-consuming and exhausting process. Various things can go wrong, like not enough eggs or embryos being produced and every embryo testing positive. This can be very expensive depending on where you are in the world. In the UK, the public healthcare system will fund a limited number of attempts at PGD providing you meet specific criteria (luckily, we do meet the criteria otherwise it will cost circa £12,000 for each attempt). Whilst this is an option for us, it takes a very long time and it could be around 3-4 years before we even have a baby, and that's assuming everything works perfectly. Gregg is 13 years older than me and turns 43 in April, waiting another 4 years would mean he's having another baby at an older age, with two kids already fully grown. This doesn't mean we won't go down this route, it's just something we need to think about.
We just don't even try and we enjoy our life with what we already have. This could well be what we decide but again, it's going to take some thought.
I haven't yet made a decision and right now, I'm still processing the news. I have, however, been referred to my regional genetics service to commence PGD but the waiting list is 18 months+ so I still have time to think.
I've obviously given a very brief overview of the options available, but I wanted to do this as I want others to know there are options. A positive test doesn't mean you shouldn't start a family and you can still have the future you want. My biggest tip is to speak to your GP who could refer you to your own local genetics service. Your own online research will also give you further information.
If you don't want to go through your own genetics test but know a genetic condition runs in your family, surprisingly there are still options available for this too. Google 'exclusion testing' or 'non-disclosure testing' if this is something you want to explore.
So there we have it. Family planning has been at the forefront of my mind and of course, my results are a bit of a blow. I just see it as another bump in the road though and I know with all the support I have we'll get through it. I am so lucky to be surrounded by incredible people who have really looked out for me recently. Thank you all! ♥