The agonising wait...

[MichiganSparkles]

Hi all. Brand new to mn and this is my very first post. Bear with me...

I've recently paid for NIPT, had cystic fibrosis carrier testing, and tests for infections (CMV and Toxoplasmosis).

I have convinced myself that me and DP are definitely carriers and that our baby has CF. The wait is so long and I feel like I'm turning in to a complete loony. Struggling with every day tasks and can't focus on anything. In tears all the time and have this horrible sense of impending doom.

Can anyone guide me through this? I'm think I'm falling apart!

Anyone? Genuinely losing the plot

Why do you think you are CF carriers? I think you need to tell your gp and midwife how you are feeling so you can get some support

@Cariadxx

They found a problem with our baby's bowel on the ultrasound which is why they've sent us for the tests. I've spoken to my midwife and she's said there nothing I can do apart from wait and she's now on leave for two weeks. I know there's nothing I can do, but my anxiety levels are through the roof and I don't know how I'm going to cope with the not knowing. It's brutal.

Ah right ok that makes sense. If it's echogenic bowl that's a really common finding on ultrasound and usually comes to nothing. If you find you are both carriers for CF there's still only a 1 in 4 chance the baby is affected, you can have an amnio now or if you wouldn't terminate either way, our hospital offers a late amnio after 32 weeks so you are prepared mentally when the baby comes, and if the amnio does induce labour they would be fine to be born at that gestation.
CF is not necessarily the severe life limiting illness it was when we were young, patients are living into their 50s. A young woman who had a lung transplant competed at badminton horse trials this year. Obviously there is variation between patients.
If your Mw is on annual leave there will be someone covering her who you can speak to.

@Cariadxx I did do a bit of research around CF. I guess it entirely depends on which strain you have. Some are more severe than others. I've always suffered with sinus problems and have had bronchitis a few times so suspect this may be because I am a carrier for CF. However this could just be my mind taking me to strange places.

I understand that you can lead a full life to an extent with CF however many people still don't live past their 20s. I've witnessed this myself and it appeared to be an agonising way to pass.

I think my anxiety has convinced me that it absolutely is CF or a severe infection. I just want my baby to be healthy like anyone else but I'm a complete emotional wreck at the moment as I just have no idea what's going on.

Thanks for your response. Keeping my fingers and toes crossed that results come back soon..

@michigansparkles I actually spent yesterday afternoon with a CF expert respiratory professor and he says carriers are asymptomatic so your sinus/ chest troubles are just bad luck sorry!
CF doesn't have strains.... it does to some extent depends on your mutation but it's the rarer ones that are worse affected in general. It also depends on the compliance of the child.... I've met rebellious teenagers who refuse to take their medicine etc and yes they are more affected because of it. Also children born today will survive longer than children born 20 years ago as so many advances have been made.
Even if you are a carrier the baby's dad also needs to be a carrier and then you both need to pass the gene on so you being a carrier might be completely irrelevant. Good luck and fingers crossed.

Thanks @Cariadxx - though CF carriers definitely can have symptoms. They're usually asymptomatic but it does happen. They're just very mild. We've sat down with a specialist also, strains was probably the wrong word. We have both had testing so just waiting for the results...

Well we might have to agree to disagree on that one, you can't have symptoms of a disease you don't have but there are polymorphisms in the cftr gene which give varying sweat chloride levels even in completely asymptomatic adults.
Fingers crossed for you

CF carriers can absolutely have symptoms. OP in your case I'm sure there is a much more likely cause of your symptoms, however it is fairly well documented now that CF carriers can have mild symptoms such as bronchitis and pancreatitis, and low blood pressure (especially in females). Not common, but definitely possible.

A dominant gene does not always repress every phenotypic expression of the recessive, so as a carrier some CF symptoms are possible. Sometimes it's a matter of an unknown second mutation that isn't caught.

Lots more research needed but we are finding out more and more every day!

Wishing you all the best OP

Thanks both! @Cariadxx let's hope you're right and I'm misinformed!

Fingers toes and everything crossed today 🤞🏽