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G-STAR
03-06-2015, 11:06 AM
Hi there

Our gorgeous little e girl was diagnosed with CF at 3 weeks old. She is now 3 months old and doing great. We have just got the results back in relation to her gene mutation. One of then is d508 and the other is C2657+2_2657+3INSA which I have been advised is a very rare gene type. We are based in Ireland and our consultant knows very little about this particular gene combination. One thing that he has indicated is that our daughter is likely to to be pancreas sufficient and that she may have a milder form of cf. As you can appreciate we are trying to get out heads around this and believe that this is very good news.

Is there anyone out there that has this combination? or can comment on this please. This is still very new for me and my husband and its difficult to get information on this gene and impact. I would be very grateful for any help/advice.

Many thanks(VEST)

lauryn.tubes
03-06-2015, 12:10 PM
HI G-STAR. My daughter is in a similar boat as yours. She has df508 and then a rare mutation. The one you listed, is also called 2789+2insA and you can find more information on it at the www.cftr2.org website. I would try and search google for information on 2789+2insA - you may have better luck!

Unfortunately, that website doesn't give you too much more information. They don't have enough information about that mutation to have a ruling. I contacted the CFTR website owners, and they are anticipating an update sometime this summer. Maybe you'll get more information then! Sorry you're in a rocky boat - I understand. My daughter's mutation causes CF in some, but not others and there's only 12 listed cases.

Best of luck!

G-STAR
03-08-2015, 04:21 AM
Thanks so much Lauryn. This has been helpful. Hopefully there will be more info soon. Our consultant has stated that he is fairly confident that he has cf due to her sweat tests results. We will continue to try and find more information.

Chubb
03-09-2015, 06:00 PM
Hi there,

My grandson has the same mutation combination as your little girl and 7 years ago we were in the same situation you are in now. I am usually a passive member of this form, however I know how frustrating it is to have so little information about this rare gene. As a result I felt compelled to reply to you. Our grandson is now 7. He is pancreas sufficient, normal height and weight for his age and very active school boy. He has only had normal coughs and colds which have always cleared quickly.His sweat tests were borderline. My daughter and her husband attend the CF clinic every 4 months and of course, there is his annual review, which to date has shown no CF features (Xrays, lung function etc. normal). He was diagnosed at 6 months of age because he had a lingering cough. His was treated proactively with daily physio but now he just does pep daily.

Before IRT testing of babies it was found in conjunction with male infertility in adult patients.

I hope I have been able to offer some help. Just try to enjoy your baby but be proactive.

Best wishes.

S&DWheeler
09-06-2015, 11:52 AM
Hi there. Our daughter is a year old and was diagnosed at a month old with the same mutations. So far, she has shown no symptoms of cf and is gaining weight fine, is pancreatic sufficient, and is no different than our other children at this age. She did have a slight bout of RSV in the winter.

It is encouraging to read that others with this same mutation set are experiencing the same thing. Unfortunately, tere is just not a lot of research or info on 2789.

Derek

A B
12-10-2015, 02:00 PM
My daughter is six months old and was diagnosed with these mutations in June. She is pancreas sufficient and 56% for weight. I have been trying to find other people with these mutations as well! I'm so excited to have found you all!

Do you know what category the mutation is? What kind is it? I heard it is a splicing mutation or a frameshift? I'm just wondering what kind it is to figure out what kind of meds will be available when she gets older.

G-STAR
07-17-2017, 02:54 PM
Hello to all
Our little girl will be 3 in December and she is doing just brilliant. So far there have been no symptoms at all. We both are thoroughly enjoying her and can forget at times of her condition. So far no pep required and only some sinusitis over the last few months.

It would be great to hear how all of you are doing.

Thanks for all your support to date.

CourtneyGerspacher
01-09-2018, 08:49 PM
Hi, my son was diagnosed with these gene mutations yesterday. Iím from Ohio,USA. Where is everyone from? I heard this is a very rare mutation combo. I was so scared when I found out he had CF but reading these posts gives me hope and makes me feel better.

G-STAR
01-18-2018, 08:38 AM
Hi Courtney. I understand what your are feeling and that you are scared. What I can say to you is that although we are in this unlucky situation with our kids having CF, we are so so lucky with the gene type they have. My experience has been fantastic so far. Our daughter is thriving and has had practically no symptoms - just a bad cold that took a while to shift. Exercise is really important and having them pancreatic sufficient means that there is some good work going on in relation to their protein. There is still very little info on the rare gene, it can cause sinusitis. I remember the awful and worrying time we went through when our daughter was diagnosed as a baby but we now have confidence that the condition will now impact her life in any major way. Keep strong and keep asking questions as much you can. As Ibhave said, exercise is paramount. Their futures are extremely bright! We are based in Dublin, Ireland and so far there are no other children with this combination here. Take care.

Printer
01-18-2018, 11:10 AM
Courtney & G-Star:

I have Delta F508 and V562I. V562I is a mild and rare mutation, only found in seven families in Northern Ireland. January 19 is my birthday and I will be 78. I have 2 college degrees. I played varsity basketball (not well but I played). I was a lifeguard, for the State of Massachusetts, on an Atlantic Ocean beach for 5 summers. I have been married for 55 years.

Given all of the research that has been done on CF and the available drugs, not to mention those that are in the pipeline, your children will live a long and reasonably healthy life.

Bill

Dwheeler14
06-11-2019, 11:42 AM
Hey everyone, I posted on this thread initially in 2015 under a different account but got locked out! So I'm back!

I wanted to post just to find some general updates from those of you who deal with F508del and 2789+2insA.

My daughter is now almost 5 years old, and has still shown zero symptoms of CF, which we praise God for.

Our doctors really want us to keep doing the "preventative" treatments and have moved us into pulmozyne treatments each day.

How are the rest of you doing? Any concerns?

Thanks,

Derek

Ratatosk
06-11-2019, 01:03 PM
Welcome back! Glad to hear your daughter is doing so well and that you're being proactive with treatments! CF can be such a sneaky, progressive disease, so it's important to stay on top of things. I imagine she'll be starting school soon!

Chubb
06-13-2019, 08:11 PM
Hi, Our grandson has same combo. He is 11 now and has also shown no symptoms. Had a CT scan beginning of year which showed absolutely normal lungs. No damage. Has never used pulmozyne but does his breathing exercises. FEV1 consistently above 100%.
Thus far any respiratory viruses have been of mild severity and short duration. Fingers crossed this will continue.
Of course although very pleased with his progress, his doctors still advise caution. Fair enough.
Glad to hear your daughter is doing well and hopefully will continue to do so. Cheers.

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11-25-2020, 11:52 PM
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