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DeltaF508/R1162X
- Thread starter katyk
- Start date
Hello! Our daughter has DF508 and R1162X. She is just 21 months old and although she is pancreatic insufficient she does not need huge aunts of Creon. So far her lung x ray. Damage score is zero and she does not cough or sneeze up any mucus. She has not cultured any bugs so far. Our team do not recognise it as a mild mutation although I have seen it mentioned that it causes "mild to moderate pulmonary symptoms". If you have links to any articles on the gene I would be interested to see them!
Unfortionately, I don't have the links to the articles I read, and can't remember exactly where I read them.:/ I am 22 years old and have DF508 and R1162X. I have a sister also with the same mutations, but do not know anyone else with this mutation combination, so I was just curious about other CF'ers with this mutation. Likewise, my CF team has never referred to my CF as mild, but doctors have always been impressed with how healthy my lungs are. That is wonderful that your daughter is doing so well and is staying so healthy! I hope she continues to stay well!
KatyK I am so thrilled to see another comment from you! I have some Cf parent friends on Facebook but we have never come across another person with this gene combo! it accounts for 0.09% of the UK population so we may in fact be the only ones! Our genes are a puzzle as I am from Northern Ireland and carry the DF508 gene and my English husband carries R1162X, which is most studied, and probably most prevalent, in Italy and also appears in Latin America, with a particular appearance in the Zuni tribe of New Mexico. My husband has blonde hair and blue eyes! So how are you keeping? What treatments do you do? Do you tend to culture bugs? And how is your sister? I am bursting with excitement and loads of questions! We have heel prick screening in the UK so Freya was picked up at three weeks and it was so tough. She was a month prem and was so thin and poor... But once the Creon did its work she piled on the weight! She is now on the 75th centile and yet to culture a bug! But we have had terrible weather here in the UK, a horrible, wet winter and the very worst kind of weather for CF lungs. So I am not going to congratulate myself just yet (we have clinic next week). I am SO pleased to hear from you! Stay very well xx
Yes, genetics are so fascinating. We presume that my sister and I got the f508del from our dad's side, as they are Kennedys and of Irish descent. And my mother has some italian blood, so possibly that is where the R1162X came from! So, to answer your questions, my sister and I are both doing very well. As far as treatments, we do the SmartVest airway clearance, and inhale Albuterol, Pulmozyme, and Hypertonic Saline every day. We are also on inhaled antibiotics.(alternating months) We do culture bugs. I have only been hospitalized for CF twice in my life, when I was 11, for the first time, and when I was 21. My sister is doing just as well as I am, and has only been hospitalized twice in her life also. We both struggle with chronic cough, but that is generally kept at a very low profile while we're on antibiotics, which is much of the time. I have an FEV1 of 91, which my care team is quite happy about! I lived in ireland for 4 years, when I was a little girl, and I remember the damp weather. We now live in the U.S, and don't have too much wet weather. Thanks for replying! Good luck at clinic next week, hope your daughter gets a good report!
Hello! Just sat playing with Freya and thought I would drop you a line. Clinic went very well, Freya amazed us by growing seven centimetres since October. She weighed 12.88k so is between the 75th and 91st centiles which is great going for a girl, very proud! Chest and tum fine and (barring any nasties) we only have to go back in March for her Annual Review. She will be two! I can't quite believe that, seems so grown up! She is is great form, has developed a real passion for all things Outer Space! We have bought her kiddy books on space but she still prefers the astronomy textbook she unearthed from goodness knows where in one of her ferreting/exploring moments. She can even point out Saturn by name! Needless to say we are incredibly entertained by this, she has such a funny little mind with very definite likes and dislikes! We have decided to homeschool her, which was something we had talked about while I was still pregnant so not necessarily a CF decision. Still, we think schooling her from home will give her a healthy and secure start in life. Perhaps when she's older she will ask to go to school, probably to meet boys if she is anything like her Mum! Homeschooling is regarded as very strange over here in England, something only weird Christians and hippies do. Well, we are a bit hippy-ish guess, but that isn't it! We want to enjoy teaching her ourselves and quite frankly I think she may go faster than other kids, so we can go at her pace. She is going to dance classes later this year and then can start a soccer class after that (she is awesomely good at kicking a ball) so she will still meet lots of kids and make friends. Anyway, enough rambling and lasts about our super-fantastic child, how are you and your sister? We all think of you guys and send lots of love xx
Hello, Our son has DF508 and R1162X. He is 9 years old.
He is pancreatic insufficient, takes 125,000 U of pancreatine per day, he has mild pulmonary symptoms. inhale Salbutamol, Pulmozyme, and hypertonic saline every day.
In the last winter season cultured pseudomonas aeruginosa, but was controled with ciprofloxacin and tobramycin. He is not colonized. In general his status is very good. We hope Ataluren, VX-661 with Kalydeco, finishes the clinical trials and this medicine arrive a Latin America. Kind regards.
He is pancreatic insufficient, takes 125,000 U of pancreatine per day, he has mild pulmonary symptoms. inhale Salbutamol, Pulmozyme, and hypertonic saline every day.
In the last winter season cultured pseudomonas aeruginosa, but was controled with ciprofloxacin and tobramycin. He is not colonized. In general his status is very good. We hope Ataluren, VX-661 with Kalydeco, finishes the clinical trials and this medicine arrive a Latin America. Kind regards.
My daughter is 14 months old and has this cf combination. D508 came from her father (Scottish decent) and R1162x from me her mum (Italian decent), all living in Australia. Again, no "known" history from either family....... so we were in utter shock when we were told our youngest of 3 daughters has CF. Its been a really really tough year for us. I guess we have been mourning the loss of a healthy child, but still trying to remain "normal" for our other 2 daughters, who are still to young to fully understand why their sister needs physio every day and emzynes before food. Our baby was hospitalised with pseudomonas at 6 months of age - but scans etc show there was no damage to her lungs as we were lucky to have caught it very early in the piece. We are a very new family to CF and just trying to learn as much as we can about this disease and trials and other treatments.
I have done quite a bit of research on the trial Ataluren, VX-661 with Kalydeco - and it looks promising !!! So we keep our chins up and keep trudging on - after all - our baby is still our baby girl whom we love more than she will ever know. She is sooo loved by her sisters and honestly she completes our family. Our little one has been healthy for 8 months now. not even a cough so we keep smiling as we are so lucky to have her - and she lucky to have us, a loving family who will move mountains to keep her safe. Being a baby, there are not many clinical trails available, so we are always keen to hear how others are going.
I'm very interested to hear how other parents are coping with their child/children having CF. We have only just begun telling friends and family, as its time to allow others to help us...... another thing that is "new" to us. LOL
I have done quite a bit of research on the trial Ataluren, VX-661 with Kalydeco - and it looks promising !!! So we keep our chins up and keep trudging on - after all - our baby is still our baby girl whom we love more than she will ever know. She is sooo loved by her sisters and honestly she completes our family. Our little one has been healthy for 8 months now. not even a cough so we keep smiling as we are so lucky to have her - and she lucky to have us, a loving family who will move mountains to keep her safe. Being a baby, there are not many clinical trails available, so we are always keen to hear how others are going.
I'm very interested to hear how other parents are coping with their child/children having CF. We have only just begun telling friends and family, as its time to allow others to help us...... another thing that is "new" to us. LOL