My son: a 3 months-old CF baby

Question

Hello,
My son born in September 2014 was detected to have cystic fibrosis in October 2014.
Since then, our lives are turned upside down .... A lot of stress and fear for the future of our child.
We got the results of mutations in December. Since I’m crying a lot...
Can you give me some explanation about p.Phe508del mutation (F508del) and c.2039delC (2171delC) mutation class 1 ?
Will there be a treatment with these two mutations???
Will we have one day a gene therapy?
If someone has mutations Class 1 and Class 2 can you reassure me about his health?
THANKS IN ADVANCE.

Answer

Hello,
I understand the trauma of a CF diagnosis after a positive newborn screening test because, usually at this stage, the baby has not any symptoms that can suggest the diagnosis. The identification of two mutations of your son only confirms the diagnosis.
All parents who are in your situation are overwhelmed, stressed and worried about the future of their child. With a little time and with the help of your CF Center team, like other parents, you will recover confidence in the future of your child: like other kids he will have his own life with, actually, the obligation of a regular treatment and follow-up.
There are more than 1,900 mutations of the gene responsible for cystic fibrosis, the CFTR gene. F508del mutation is the most common, present in more than 2 of 3 patients: it is a class 2 mutation, say that the produced protein is destroyed before reaching the cell membrane and therefore cannot act as a normal chloride channel. The 2171delC mutation is much more rare, indeed exceptional because it is neither listed in the CF French Registry nor in the largest international database (CFTR). Its name indicates that it results in a frameshift and in a stop of the protein synthesis (class 1 mutation).
There are six classes of mutations according to their mechanism of action. Most patients combine two mutations of class 1 or 2. The identification of mutations cannot predict the course of the disease for a given individual: this course depends in fact on many factors, some genetic and innate (present at birth), and other environmental (aquired). The course of the disease is unique for each individual.
Treatment advances and organization of care and in specialized CF Centers have completely changed the prognosis. Except a very few, all children born in recent years will grow up, become adults and share the same concerns as other adults : get a job, found a family ...
New molecules are regularly developed and have the advantage of addressing the mechanism of the disease and not just the symptoms. The effectiveness of these current molecules (such ivacaftor) or future (many are in trial process) depends on the class and type of mutations, hence the importance of their identification.
Hope to have answered your question. If you need more information, do not hesitate to contact the CF Center team in charge of your son : they will help you cope with the disease.
Yours faithfully.
Gilles RAULT, MD, Roscoff CF Center

13.03.2015