Carrier Testing
Dear Team, Please can I ask your advice. I am worried that my 18 month old grandson may be showing signs of CF. I am not aware of any history of cystic fibrosis in the family, but know this does not have to be a necessary factor. To avoid causing any unnecessary worry and stress to our daughter my husband and I are considering taking the 'carrier test'. We've been told we would each be tested for 40 mutations. My question is: Do you know if these 40 would be the same common mutations which are part of the 50 looked for in the heelprick test on newborns? If so would you think it pointless for us, because our grandson must have had a clear newborn result as our daughter wasn't informed otherwise. Please can I have your answer as soon as possible, as my son has recently announced that he and his wife are expecting a baby in September and she would obviously have to undergo the relevant tests during her pregnancy should CF be found in our family. Thank you so much for your time. Sincerely, Anxious Granny
Is it correct , that if one parent is not a carrier of the cf virus so to speak that the child can not possible have cf? and is that 100% correct ?
Pregnancy and birth
What is the recommended birth method for a CFer with good lung function (71%) and well controlled gestational diabetes with an average sized baby expected? Vaginal or section? Thanks
Delta F508 and 2184insA
What percentage of the CF population has this genetic mutation? What class is it? What are its symptoms usually look like?
My 14 year old son with CF was just told he has Bronchiectasis; is it reversible? The drs aren't doing anything about it?
hot tubs, jacuzzi, spa baths
We need to explain to friends why our grandsons (11 and 14) are not allowed to go into hot tubs, jacuzzis, spa baths etc. Please could you recommend research documents (if any) or any written material to help us put this danger to our grandsons over clearly to anyone who may have care for them. Thank you - jennifer mcneil
nutrition in infant with cf
Dear doctors, my 4 months old daughter had been recently diagnosed with cf. Sheis pancreatic insufficient, as diagnosed by her doctor. Kindly advise on the following: 1. her stools are still very loose, fatty and smelly regardless she takes pancreatic enzymes with every meal. Since enzymes intake, she started to gain weight and is constantly growing every week. Will she always have fatty stools, is this normal while she takes pancreatic enzymes? 2. when can I start to diversify her food, is this recommended for infants with cf? Thank you, Ana Toma
DNA test/risk of passing CF on to children
Hello, me and my wife plan to have children. As a CF causing mutation has already been detected in my DNA, is there a high risk that our children will come down with CF? My wife was born on the Philipinnes, I am European, and it is very hard to find information regarding the relevant mutation that should be analyzed in her DNA - does it make sense to check her whole CTFR gene? Thanks from Austria Thomas
Pancreatic insufficiency without steatorrhea or other symptom
Hello, my child was recently diagnosed with CF and pancreatic insufficiency (pancreatase < 50) at age 12. He used to exhibit the symptoms described for pancreatic insufficiency (fatty and many stools, smelly flatulence, tummy aches etc) to some degree until four years ago, but upon regular administration of probiotics for two years followed by a change in diet (gluten-free) all symptoms disappeared. We were now prescribed Kreon and I am wondering what this treatment will actually achieve in my child?
Rivers & CF
How high are the risks & what are precautions we should take with a toddler cfer and playing in a river? Specifically the Guadalupe/Comal? High vs low?
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