Recent content by MasonsMom

We just got back from Mason's checkup and we have now been told that along with having two known CF mutations on one gene, he also has an m407v Polymorphism on the normal gene. Has anyone else ever heard of the polymorphism? We were told this is a rather new thing in the CF community, but I am...

Jen, My son Mason and my husband both have 2 mutations on one chromosome. When we were going through the genetic testing, we were told about the situation that is going on with your son where the chromosomes split and copied the mutation. In fact, there for a while they thought that is what...

makman, My 7 month old son has been diagnosed as a "symptomatic carrier". He definitely has digestive problems and is on a high calorie diet as well as enzymes. Our CF doctor is watching him very closely to see how carriers can be affected healthwise. It wouldn't hurt for you to talk to a...

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Kathy, Both my son and my husband have double mutations, yet do not have CF. Mason (my son) had a sweat test done at just a few weeks old and it came back as borderline. We followed up with more testing, and finally had the Ambry test done. This is where both mutations we identified as...

Mason has recently decided to stop eating for the most part. His pediatrician suggested we start offering him more baby foods instead of bottles, but we noticed the caloric intake would be significantly less. I have noticed some people referring to adding butter to baby foods and I was...

Anonymous poster- It has been my experience that even carriers show symptoms. My son and my husband both have 2 mutations, but because both of these mutations are on one chromosome they are considered carriers. They very definitely show symptoms and my son is even taking enzymes due to the...

Yes, my son got both mutations from his father and I carry no mutations. Ambry genetics from what I gather is aware of the happening because on my paperwork from then regarding my son's testing it says "The deltaF508 and I1027T mutations have been known to occur on the same chromosome in many...

Maria - My son was tested because he had a meconium plug at birth, and at his 2 week check-up he had a significant weigh loss termed failure to thrive. These two symptoms combined gave his pediatrician worry so she had a dna test done. This was a general test that looked for only the most...

Thank you Luke! I am hoping someone else may have heard of this and be able to give me more information though. I went and got the paperwork from Ambry, and the 2 mutations found are deltaF508 and I1027T. The language used from Ambry is "that these mutations are located on the same...

My husband and my son both are considered "symptomatic carriers". They have DeltaF508 AND another rare mutation both, but these 2 mutations are on one chromosome. I have been told that this is highly unlikely to happen, but we have the proof from Ambry. My husband has had sinus problems and...

We have been adding MCT oil to Mason's formula since he was about 2 months old and it has helped tremendously. At his 4 month check-up yesterday he weighed in at 14 pounds 6 ounces. Our pulmonoligist is the one who told us to use it, and you can find it fairly easily on the net. You might ask...

We were actually told several times that Mason was in a "CF grey area". After all the sweat tests and DNA tests it was determined that he is a symptomatic carrier. He was also treated as if he did have full blown CF in the beginning, and I believe this was done as a precaution. It is my...

Ok, small background information first. My son is 3 months old, and although he has 2 mutations, they are on one chromosome so he is considered a symptomatic carrier. His symptoms so far have manifested in his disgestion and not really in his lungs. Well, we live in West Texas, and the...

I was just wondering if anyone else was using this oil and where they were finding it. We bought a bottle from the pharmacy, but it was very expensive. I was hoping maybe someone knew of somewhere online i might purchase it. We are only using 5 to 7.5 ml per bottle for Mason right now, but...