Hi, let me see if I can do this in a quick history instead of boring all of you! My sister has CF. She is 36 yrs old. I recently was diagnosed with MS. While I was in the hospital, my long history of pancreatitis came up and one of the doctor's recommended I go get a sweat test for CF. His thought was that I may have a mild form of CF that caused and/or contributed to my pancreatitis (has nothing to do with the MS, by the way).The doctor said there are studies going on where they are finding siblings of CF patients are being found to have mild forms of CF as well.Do any of you know anything about this and do you know where I might be able to find something on the web about it? I've done some searching but I am coming up empty. Thanks, Kris<img src="i/expressions/face-icon-small-smile.gif" border="0">
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Family gene studies??
- Thread starter KrisJ
- Start date
Hello, Sometimes when one CF delta f508 gene is paired with what is called the poly T mutation, a mild form of CD can result. If your sibling has CF, you might be a carrier. Carrier having a higher instance of ashtma and sinus problems. Sometimes mild forms of CF can involve on pancreatic problems, infertility, or sinus problems. These are usually associated with certain mutations. Hope that helps! Mary
NoDayButToday
New member
<blockquote>Quote<br><hr>Sometimes when one CF delta f508 gene is paired with what is called the poly T mutation, a mild form of CD can result. <hr></blockquote>Is the poly T mutation a CF mutation? Also, I think its true, but not sure, that if two siblings have CF they have the same mutations- unless a parent has CF or they are only half siblings (sharing only one common parent).This doesn't really help you Kris, but I wanted to see if what I was thinking made sense <img src="i/expressions/face-icon-small-smile.gif" border="0">I also agree that carriers definitely have CF-like symptoms- my mom has some stomach problems and allergies/ashtma.
HollyCatheryn
New member
This could potentially explain so much about my family. I have CF. My sister was gene typed and found only to be a carrier (after several negative sweat tests) but suffers many of the same things I do to a very similar degree (kidney stones from malabsorbtion, sinus infections, lung infections, allergies, excess mucus, takes enzymes). I have a cousin who has always struggled to maintain weight and has had numerous sinus surgeries for polyps and infection who also sweat tested negative for CF. I then have an aunt who is taking digestive enzymes for malabsorbtion, but is not diagnosed with CF. My mother has always had reflux and excess mucus. Especially in my sister's case we've gone around and around with docs about it, but they always say that there is no such thing as a carrier of CF who experiences symptoms. Where can I find out more about this Poly T mutation thing?
HollyCatheryn,Do you know what two cf genes you have? If so, then obviously they tested your sister for those but if not, and in light of your mom's/aunt's, your sister could consider the ambry testing if she hasn't already since it tests for all mutations instead of just the most common.
Thanks for all your replies. It is very interesting to say the least!My neuro & the GI guy I saw while in the hospital were very interested in it, from a medical standpoint. They had obviously heard of some studies going on within families who had a CF child. Thanks again, if I do go for the sweat test, I'll let you all know if anything enlightening comes up!Kris