Follow on from This post, covering other questions I've been asked about CF.
Does CF only affect boys? No. CF is not linked to gender at all. It is a genetic condition caused by a mutation on chromosome 7. In the UK, 1 in 25 of the population carries the faulty CF gene, usually unknowingly. Carriers are completely healthy but if two carriers have a baby, that baby has a 1 in 4 chance of having CF (and a 1 in 4 chance of carrying no CF gene, and a 2 in 4 chance of being a healthy carrier of the CF gene). The same odds apply to every pregnancy. We know families where 1 in 3 of their children have CF, and others where all 3 children have CF. It's a genetic lottery. When a CF diagnosis is given, like us, most families are surprised and imagine that CF would only occur with a long family history of the condition, but this is rarely the case. Usually the diagnosis comes out of the blue.
Do our girls have CF? No. We made the choice very early on that we would not risk having another child with CF (emotive topic - which I will post on separately). When he was born in 2005, our only option was to conceive naturally and have a test called a CVS at 11 weeks gestation, and abort if the child had CF. Agonising, but an option we considered as we so desperately wanted to grow our family. However by 2007 they had developed a test that would detect the type of (fairly rare) mutation that he has, that we could use in conjunction with IVF to conceive. We were very keen to try this option, although the odds of success were just 1 in 5 when we started out. We also had to apply to our PCT to fund one cycle of PGD (pre-implantation genetic diagnosis) which cost about £8000. We had to wait over a year for this funding (not all applications are successful) and then longer for treatment. I will post about our PGD cycle separately (in case any CF parents are reading this and hoping to try the same) but the happy ending is our two beautiful girls - non identical twins born 4 years apart (if you can get your head round that one!). They are amazing and we feel so very lucky.
Does CF affect only the lungs? No, sadly not. The other major problem is digestion - which as I've explained before, he has to take a lot of medication for. This helps him digest fats and proteins, but not as effectively as we do. His digestions problems are caused by the duct between his pancreas and his guts, which never formed properly. In turn the problems with his pancreas may lead to him developing diabetes (CFRD). He is also at higher risk of liver disease and osteoporosis. The underlying problem with CF is the faulty movement of water and salt across cells, and in CF, this means stickier mucous. This affects all of his organs in some way, also affecting fertility.
More cheerful stuff soon. Have a great day x
