Advice needed!

[farfromperfect82]

Hi everyone,

Looking for thoughts and advice. I’m completely out my depth here and my fertility journey just got even more complicated.

I am 38, partner 36, ttc for 18 months, no bfps and diagnosed as unexplained. No male factors. AMH 11.3 and 12 AFC at last check in Sept. I have slightly elevated TSH and have just started Levothyroxine to bring it down ready to start IVF in February. I’ve also lost about 2stone and changed my whole diet and lifestyle to prepare for the treatment.

Last week I found out via some genetic testing that both me and partner are both carriers of the Cystic Fibrosis gene. This means we have a 1 in 4 chance of any future children developing this condition. Obviously this is deeply concerning and quite a nasty shock. The only way to safeguard against this is by doing something called PGT-M via ICSI and transferring to a London clinic and travelling.

We are self-funding, but we are on NHS waiting list from last month which is forecasted at a year. We are going private because of my age and the deep fear I have that I've left it too late. It was already a real stretch to afford that treatment what with the year we’ve had financially. Now this extra treatment will pretty much double the costs, plus having to travel into London for collection and transfer. I am also uncomfortable with ICSI - obv if there were male factor issues then fair enough - but I was holding onto some degree of natural selection.

I am just really torn about what to do. Right now we both feel like going ahead with standard IVF and just accepting what will be will be. Keeping positive that it will work but preparing for the outcome that I could have a child with CF, who obv we would both love to bits. My worry is waiting another year (or more?) to go via NHS - as that’s really the only way we could afford - and having a much more complex and stressful experience of IVF.

I feel like this limbo has gone on for such a long time. I’ve desperately wanted a child for almost 5 years now. I have done so much to prepare for my treatment, completely changed my life and put so many things on hold. It sounds silly but I have recently started to have faith, not in an overly religious way, but more just instead of fighting against anything going wrong in life, to go with it and have faith everything will be ok for us whatever happens. It’s how I’ve got through all of this.

I would love your advice and just to not feel so alone making a decision like this. If you have any specific experience of PGT-M that would be amazing also.

Thanks!

Hi @farfromperfect82 I’m sorry to hear of your struggles. We also had to get the cystic fibrosis test as my DH was a potential carrier. It came back negative but we had researched it and decided to do the genetic testing if so. I understand what you are saying about how you would love the child but this is not Down’s syndrome - the child will have a life expectancy of 30 years roughly and die of lung disease and severe lung infections - I personally don’t feel it is fair to knowingly put a child through that. Many couples do ICSI (we do) and genetic testing for various conditions to not pass them on. I am sure if you asked any of those who had been successful whether they cared about things like ‘a bit of natural selection’ they will say they are happy to have a healthy child. For me definitely if I have a healthy baby I will be delighted and the way that baby gets here doesn’t bother me.

I would honestly consider whether you can take out a loan and do the proper ICSI and Genetic testing.

Also regarding ICSI if you are stuck for funds then that’s all the more reason to do it as some women who have unexplained find out they have zero fertilisation with ivf and that was their issue but you may then have no money to do a subsequent round so I think your consultant is being prudent suggesting this.

I did my last round of ivf in London and if you plan it correctly you would only need to stay there one night and with covid hotel costs are low at the minute.

There is a girl on the Keith bpg I think it’s called thread who had to do the testing to not pass on an inherited condition and had a baby girl - you could post on that thread looking for advice.

I guess if you definitely cannot afford to do the testing privately it could be better to wait the year and have it funded. Especially as your AMH and AFC are good for your age it’s unlikely they would rapidly decline in a year

@farfromperfect82 I’m really sorry to hear about these extra difficulties you’ve faced. If you and your partner are both carriers for CF and you have a child then there is a 25% chance the child will have the disease, 25% chance the child won’t have the disease or be a carrier and a 50% chance the child will be a carrier.

I definitely wouldn’t risk the 25%, CF is a horrendous disease, I say this as a doctor, CF patients can need transplants just to stay alive- usually a heart/lung transplant which is a huge operation, it is a very lonely disease, as those with it end up carrying certain bacteria, that mean they are a threat to other CF patients, so they can’t support each other in person. They are in and out of hospital a lot, for regular antibiotics to try to prevent infections etc and when infections hit they can be deadly. When I worked in intensive care I watched a lady in her early 20’s die of CF, her sister had already died. Both parents were carriers and hadn’t known, I instantly got me and my partner tested, I needed to know if we were carriers- because what I watched these parents go through is something nobody should ever have to go through. I am so glad you know so that you take precautions.

It sounds like there are some options for you, even if it involves waiting, but please don’t chance it and risk the 1 in 4 chance of having a child with this disease.