Question:
My daughter had genetic testing done for CF with Ambry. After being told by her doctor that the genetic testing was negative for CF I then got a letter in the mail with the test results and found that she has exact duplicate Polymorphisms called M470V on 7T. We (of course) went to a new doctor for another opinion on her diagnosis and I am told that M470V does not necessarily cause CF unless you have a duplicate of this polymorphism, which can then cause Atypical CF.
Does anyone know anything about these variations and what they might mean for my daughter?
Answer:
It seems that your daughter is a carrier of CF because with CF you must have both the 7T geene to be one of the many mutation of the CF geene for instant my daughter has a G558F and Delta 5. You ave two sets of geenes one from your father one from your mother both mother and father has to pass a bad geene in order for the child to be CF.
I hope I did not miss read your question and this is of some help to you.
Answer:
it appears that she has the same one twice...from me and her father, if I am understanding these results correctly. I believe that this is not considered a CF mutation unless that you have a "repeat" of it, which seems to be the case. I don't know if I am understanding all of this "lingo" though!
Answer:
I wish you were not going through this, but I am so pleased to read your message. I have been "sickly" all my life - at one point I had more than 10 different diagnoses. I told doctors that I believed there was one diagnosis for me. I was not treated with respect. What made me so sure I was right was that my two daughters were developing all "my" symptoms.
My answer came as my children were first seen in a CF clinic and the doctor looked at me and told me when he had the children taken care of, he would start on me because he believed from my medical history that I had CF as well. I was given digestive enzymes and my life changed. I experienced no tummy/digestive pain for the first time I could remember. Then my genetics came back. "Sorry, we were wrong, you don't have CF."
MY genetics are very similar to your daughters:
M470V/7T
M470V/5T
I saw a geneticist who said that he felt that in 5 years I would be diagosed with no question, but that for now, he would provide "protection." He wrote a letter stating that he believed that I had a variant of CF and should continue to receive treatment. My adult CF doctor sent me to a CF ENT who scoped my sinuses and found that they are typical CF looking - small and underdeveloped - which explaines the chronic sinus problems and horrible migraines. His treatment worked wonders.
My CT scan looked very good. No cellular damage. However, my lung function test does show slight loss of function. He continues to see me every 6 months to repeat the function test. He says that sometimes there is a middle age onset of lung symptoms in people in my position. (I will have my 38th B-day nexty month.)
I believe there are more of us who do not have the traditional genetics, but have fairly typical (although maybe milder) CF symptoms. [ removed ] Good luck and God bless. Catherine
Answer:
Hello, I was glad to find some posting on the internet regarding these genes. My two children ages 10 & 6 were diagnosed this year with CF. We were told they don't have the typical CF gene. My daughter has 5T9T and my son has
M470V & 7T or 5T9T (why the or I am not sure). Both of my daughters sweats were high. My sons were both borderline (on high side of borderline). I am trying to understand all of this and the genetics is confusing. What do you mean they need to have a duplicate? A second one of the same M470V or of a different one? Do you know anything about the 5T9T? Julie