Anyone who can help plse!
I am currently in hospital with my 3 month daughter and have had ongoing breathing issues not that it bothers my daughter. He oxygen level is normal, but she is having weight issues that may be related from the fast resporiatory rate, and may not be. They are even wondering if it is related to CF or not, as her exrays show normal lungs and never any infection.
Im lucky enough to have a beautiful happy go lucky girl, who doesnt show any signs of distress yet isnt able to feed very well, and has very high effort of breathing periodically.
We are awaiting a meeting with the genetics team I would love to hear from anyone who has the following genes. I am keen to try and establish the severity of these genes, and what are the common problems.
Also the 20143delT seems to have had a mutation name change, and is now 2012delT, which I dont understand why. It also wasnt one of the ones that comes up in the panel of the top 23 mutations, so is this a more less severe, and rare form?????
Thank you!!! Im pulling my hair out, my daughter has more. We are located in Wellington, NZ