Search results

  1. K

    Formula milk or solid foods

    Hello Madiha, lots of love to you. Can I ask if you have a CF team? over in the UK we do, and they take care of so many of these questions for you. If you have a team assigned, get them working on your behalf, you need their support as its a lifelong journey together. Do ask us parents...
  2. K

    I live in Europe - How can I get Kalydeco without the G551D mutation?

    You need to have G551D for this to work, so save your money! Better to to wait for meds for your genes x
  3. K

    Frightened and sad...

    Hello again and congrats! Yes, the elevated IRT is a signpost for CF, that's what they look for in the heel prick and how they decide to send those samples on for further testing. Our daughter has exactly the same gene combo, DF508 and R1162X and is very well. I know three women in America with...
  4. K

    Carriers symptoms..?

    I carry the DF508 gene and have never had any CF-like symptoms ever. So for me, no, it's not true.
  5. K

    Announcing CF to the world

    There is definitely a balance to be struck. When our daughter was diagnosed we told the village because it was such a big deal, we were very upset and could never have hid it. We also put an announcement on FB and this has been great as we have upped awareness and lots of people have then done...
  6. K

    Any other CF Pagans??

    There are several ways to define a pagan as well as just not one of those main religions, but that's another story! I am a pagan but not polytheistic. I don't have CF myself, my daughter has CF. I personally feel my spirituality helped me hugely with coming to terms with the diagnosis. CF is not...
  7. K

    DNA UK

    Heather! Thanks so much for the message, this gene combo is not very common so I am dead keen to find other other parents! Freya has her second Annual Review last month, and did so well! She is between the 75th and 91st centiles, and her chest x ray damage score was zero!! We were over the moon...
  8. K

    first symptoms and diagnosis of CF at age 73

    You have two copies of DF508? It is very rare to be pancreatic sufficient with that gene, and to be picked up so late! Your story will inspire many with that same genotype. In the UK, a CF diagnosis immediately triggers a referral to the most local CF centre. They would put you on a daily...
  9. K

    first symptoms and diagnosis of CF at age 73

    Amazing! Could I ask what genes you have? Find a centre specialising in CF and get the meds you need. Blessings to you x
  10. K

    Meconium and newborns

    All babies pass meconium. But not all CF babies have meconium ileus, our daughter passed her meconium totally normally so we had no idea she had CF until the heel prick revealed it (we are in the UK). HTH.
  11. K

    Frightened and sad...

    Please be reassured! Your child has exactly the same gene combo as our daughter, it's quite rare so I would love you to keep in touch. I know I can't say your child will be same as ours, as each person is completely individual, but our daughter is SO well. Her chest damage x ray score is zero...
  12. K

    DNA UK

    Hello! Our daughter, who is two years old in March, has the DF508 and R1162X mutations. It's a real puzzle as I am from Northern Ireland (DF508) and my husband English (R1162X) so the latter gene in particular is quite a puzzle. Have seen some research on this gene which is quite common in...
  13. K


    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...
  14. K


    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...
  15. K


    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...
  16. K

    R1162X - Who else?

    I also have a small daughter with the DF508/R1162X combo. As rightly said, be careful, as I myself found the profile of a beautiful young woman with the same genetics who I later found had actually died. I was devastated for weeks. There are a lot of external influences as well as genetics, but...