View Full Version : Has anyone heard of/seen novel mutation F575Y? Ambry?

06-07-2005, 12:28 AM
Our fetus was identified to carry my mutation (a known one) and this one (novel) through Ambry. Ambry now knows of two cases of F575Y in CF-like symptoms in patients who also carry Delta 508.
Does this sound like it is CF causing? Have any/all of your experiences with Ambry proved good? Are they effective/correct at identifying rare mutations or do they just incite false fear???


06-07-2005, 12:41 AM
Any CF mutation Ambry identifies is a CF gene. Therefore, if your fetus was shown to have two mutations, the baby does have CF, and it's not false fear or a mistake or anything. However, the rarer mutations sometimes tend to cause more mild cases of CF. But it still is CF. As for Ambry's accuracy, they are considered the best out there for CF genetic testing. Good luck <img src="i/expressions/face-icon-small-smile.gif" border="0">

06-07-2005, 02:16 AM
Any CF mutation, however rare, in combination with another mutation-whether that one is rare or very common (Delta F508 is the most common) IS a CF diagnosis. THere are no implications that one can assceratain solely based on the mutations. Every single person's CF causes them different problems and may affect different body parts (ie. some lung involvement, no digestive involvement, reproductive involvement in males... or any comination of those three main issues). Even siblings in a family, who have the exact same mutations, often experience different problems related to CF. The scientific community is not yet aware of exactly what causes this difference- and it is especially puzzling to them in the case of familiy members who clearly have the exact same mutations. There are CF studies going on right now which are trying to get this figured out, but nothing has been proven yet.

Although CF comes with it's complications and life isn't easy sometimes for CFers, nobody's life really is easy and we all have our own issues of some sort. I should clear up that I don't have CF, my husband does-and he is all I know of CF besides working with some CF patients at my hospital and meeting just a few in my lifetime-after I met my husband. But I am not without my own problems and issues, and I don't think anybody else in this world is. Sometiems my husband's issues are much more cumbersome than mine and sometimes mine are much more cumbersome than his. If you have fears about how your baby is going to adjust to life with CF, because these two mutations IS a CF diagnosis, there are plenty of parents on here who can share some daily experiences of their children, and plenty of adults with CF who are living "normal" lives (I hate to use that word because really, what is NORMAL?), working, going to school, starting families... Aside from my husband doing his chest PT and CF medications, you wouldn't know he has CF and that is the case with more CFers than not. If you have questions for those adults, there are many great people on this site who will answer "adult" questions too.

And about AMBRY, they are the most advanced labratory for being able to detect CF mutations. They have ongoing studies and are finding new CF mutations all the time. If somebody was going to find a rare CF mutation, it would be ambry. Have you had a change to visit their website? If you go to MSN and type ambry genetics in the search engine, it will pull up. Their website is very informative.

Julie (wife to Mark 24 w/CF)