I thank all of you who have replied...
I will start from the beginning of this whole process so you have a better idea what has happened already.
In late spring of last year my son was bit by a dog in the face and that required 60 plus stitches to his face. later he will have to have plastic surgery. Just when he started to recover from that he had his first major asthma attack. Being and asthma suffer myself i immediatly gave him my rescue inhaler. During the summer these attacks happened more frequently. We had made an appointment with a specialist but it was 2 months out. They tested him for allergies and come to find out he is allergic to most airborne things and mold, tree's and some animals. But then the doctor had asked us if he was ever tested for CF. At that time my husband and I were like "whats CF?'....we later found out. Then came the sweat test here locally and when it came back positive, they sent of to our CF clinic. There, after looking at his history of cronic bronchitis and low weight gain they decided to another sweat test. Because the first was not in an accredited CF center they repeated 2 more times. They gave him a breathing test which he failed. He averaged about a 72%. They then put him on Flovent, Albuterol, Nasonex, and Singulair. Most of which treated his allergy symtoms. Because of his breathing test they wanted to treat it very aggressivly. Then next came the Blood work. And yes Ambry did them. We waited approximently 2 months and that was when at first we found out he was only a carrier of the CF gene. A sigh of relief was taken then. We figured his symptoms were asthma related. At this time, we didnt realize that his blood was still being tested.
But 2 days ago, we receive a phone call from our genetics counselor giving us the news about the Atypical CF. I understand that he does not show all the normal signs, (oily stools) but did show signs from and early stage. Especailly low weight. I was kinda mad at his pediatrition for not catching this sooner. He has always been smaller and skinny but that was never a concern. He would get bronchitis so bad that in the middle of the night his lips would turn blue.
Back in December when they tested his breathing again after being on the meds for 2 months his breathing improved majorly. So at that point they took him off all his meds except the Flovent. He seemed to being doing fine for the first month or so but now he seems to be using his rescue inhaler more often. So we made another call to his Doctor because we are not suppose to see him until April. We are still waiting to find out what they are going to do.
Anyway, The genetics counselor told us if he was having only the asthma signs that would be different. But because he has tested positive during the sweat test and now has this certain gene mutation its more likely to be Atypical CF.
Here is what the results said..maybe someone can make some sense of it and put it into terms I can understand....
CFTR Full Gene Known Mutation R117H
Novel Variants None detected
TG repeat / Poly T Variant (TG)12-5T / (TG)10-7T
This patient is a carrier of the R117H mutation and the 5T variant in the CFTR gene. The combination of this mutation and the 5T variant are most likely cotributing to the symtoms for this individual. Family studies wouild be necessary to determine if this mutation and the 5T are on different chromosomes.
This is what they are doing now. My husband and I are being tested. They told us that with this TG)12-5T / (TG)10-7T combination is why they are doing further testing.
We really need someone to explain all this to us...We are still very new to all this and even though I am doing endless research, it still seems like a forienge laungage to me...
Thank you for your patients in reading this but maybe with this story we can get a better idea what is going on...
Tina
