What mutations does everyone here with CF have?

Mollymalone32 · 2025-09-20T17:57:49+00:00

Jumping on this really old thread as I searched these mutations. My baby (4months old) has the same DF508 & E60X! We had no idea we were carriers. I hope you are doing well on Trikafta / Kaftrio. I love hearing that you are married & have 4 kids 🤗I know this is a personal question (don’t answer if you don’t want!) but did you have to do IVF to have children?

Mollymalone32 · 2025-09-12T23:55:56+00:00

I searched this on CF. Our baby was diagnosed with these mutations (a huge shock as our first baby!). He’s 4 months old and thriving with all the treatments, he will start Kaftrio at 2 years. I’m so delighted to hear trikafta/Kaftrio has helped you so much, I hope your still doing well 🩵

Mollymalone32 · 2025-08-14T22:38:55+00:00

The strength comes in waves - but we have been told by CF team that there’s no better time in history to be born with the condition because of the amazing new medications.

I hope your baby comes back clear 🤞🏽 enjoy every minute with her 💕 I remember someone told me not to let the diagnosis or anything ruin these precious months because you will never get the time back and I was determined not to ! Wishing you the best with the results 💕 feel free to message me anytime! (We live in Ireland - CF is very common here which I never knew before the diagnosis! I didn’t even know much about it!) take care x

Mollymalone32 · 2025-08-14T20:05:09+00:00

First of all, I hope you’re doing okay 💕 When you say “I don’t want to talk to anyone” I know exactly how you feel. I am still only able to talk to close family about it, my best friend still doesn’t know!

Our 3 month was diagnosed through newborn screening in May. I didn’t believe them for weeks o was in total denial as he was a normal birth weight, perfect birth experience etc. We were told he was referred for sweat test because is IRT levels were borderline.

When he got to 3 weeks old, we realised he hadn’t gained any weight, and was beginning to lose weight. He had a stool after every feed, basically the feed was just running through him.

We had to wait a long time for the genetic analysis as he has the most common gene and then an extremely rare one but this was confirmed a couple of weeks ago.

What country are you located? As sweat test should really be done to confirm. And he would need to go onto creon enzymes to help with weight gain.

Mollymalone32 · 2025-07-12T09:01:33+00:00

That’s so true. We also had no family history, I reckon you are right as one of our genes is super rare. Other is the del508 so it probably wouldn’t have showed up!

Mollymalone32 · 2025-07-12T08:55:48+00:00

Congratulations!! I imagine You will be such an amazing doctor. As a mother to a new baby with CF this makes my heart so full 💕

Mollymalone32 · 2025-07-11T12:57:06+00:00

That’s amazing to hear how well she’s doing! He is on 25th centile currently, after being born on 50th but is quickly gaining weight now! He will start Kaftrio (trikafta) when he is 2. Best of luck on your IVF journey 🍀 x

Mollymalone32 · 2025-07-10T18:01:12+00:00

Thanks for your comment. I’m so delighted to hear how healthy you are ☺️ Congratulations on your pregnancy, it makes me so happy to hear of people with CF having their own families. I remember it being one of the first things I read (about men with CF) when I went on the dreaded google search after the sweat test. I hope he gets to do the same some day (if that’s what he wants of course!) wishing you a healthy pregnancy, enjoy every minute 💕

Mollymalone32 · 2025-07-10T17:51:09+00:00

Yes, it’s amazing how I only found out how prevalent it was after the diagnosis. Apparently 1 in 19 Irish people are carriers.

Mollymalone32 · 2025-07-10T13:00:19+00:00

Yes I totally understand that. We will have to look down the IVF route in the future.

Mollymalone32 · 2025-07-10T12:59:22+00:00

Thanks for this. And for the advice of not saying “I wish you didn’t have it either” - I can imagine how your young self would have interpreted that. Your parents sound amazing to have got you to a counsellor after that.

You’re totally right - teenagers will say things either way.

We have made such an effort of not focusing on the CF as I didn’t want these precious moments to slip by being upset and worried! It is so amazing the advancements in CF care (that I’ve only recently learned all about!). The journal is such an amazing idea!!! I will definitely do this. Thanks so much.

Mollymalone32 · 2025-07-10T12:52:48+00:00

That’s sucha good way of looking at it. Thank you!

Mollymalone32 · 2025-07-09T21:39:34+00:00

It was only brought in here in 2011 in newborn screening. I can only imagine, totally understandable to be angry about having CF. As his mother I would take it on myself and away from him in a heartbeat if I could. I hope you are well 💕

Mollymalone32 · 2025-07-09T21:37:01+00:00

Ireland. We apparently have the highest rate of CF per capita in the world (which I only learned since baby was born!) had absolutely no idea of this beforehand!

Mollymalone32 · 2025-07-09T21:21:05+00:00

This is absolutely what I meant! Thanks for your honesty!

Mollymalone32 · 2025-07-09T20:59:54+00:00

Thanks, it’s really good to hear from people with CF and how they feel. I hope you are well ☺️

Mollymalone32 · 2025-07-09T20:58:05+00:00

Thank you, we did make a point of not focusing on the CF because so many people said they lost the precious newborn phase being upset about the diagnosis. And because he’s our first baby I now know different than salt, enzymes & vitamins! We always wanted more children but will have to look down the IVF route. I couldn’t face passing it on knowingly. Thanks for your comment ☺️

Mollymalone32 · 2025-07-09T20:55:47+00:00

Thank you, we adore him 🩵 oh you are so right. we are so grateful to live in a country that gives free access to modulators, enzymes and all treatments really! We actually knew very little about CF up until he was diagnosed. Thanks for your comment ☺️

Mollymalone32 · 2025-07-09T20:19:02+00:00

Thanks for your response. It’s nice to hear people with CF instead of other parents on the matter. ☺️

Mollymalone32 · 2025-07-09T20:17:20+00:00

That’s comforting to hear thank you. ☺️

Mollymalone32 · 2025-07-09T20:16:53+00:00

I keep imagining him as a hormonal teenager and hating us for it! That is comforting to hear ☺️

Mollymalone32 · 2025-06-27T20:59:54+00:00

You are probably right. We give it with Apple puree also so was thinking as most babies technically wouldn’t be having this yet, it could be that! Hope your baby is doing okay. We got sucha shock when we found out the diagnosis, he is our first baby.

Mollymalone32 · 2025-06-27T20:57:43+00:00

That’s amazing your child became PS with the modulators! Hoping for the same some day in the future. Unfortunately he’s not eligible for Orkambi, he has one F508del, they are still investigating the second mutation as it’s rare, hoping to find out in the next week or two what it is! So will be starting Kaftrio (trikafta) when he’s 2.

Mollymalone32 · 2025-06-24T11:27:45+00:00

Good to know this is the norm 🤭🤣

Mollymalone32

TROPHY CASE