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I love getting questions from readers and this one came at a perfect time in light of some new research that just came out. It sounds, given my answer, that I disagree with the research, but in fact I don't. Genes do play a role in how CF manifests itself in our lives, it does not however play the only role. She also asked about IVF and the role, if any, that PGD played in our decision.
Can I ask ? Is there certain Cf genes that are more sever than others or does it make any difference ? How old were u when ur parents told u that u had Cf I don't know when I should approach that with eoin he is 6. Also congrats on your 13 wk scan all looks great did u guys do ivf with pgd ?
My Response:
You know they do classify genes into one of five classes. The classes are often just a representation of how well our cell is functioning. For instance, class 1 has little to no cell function where class 5 has very close to normal cell function. My mutation DDF508 (the most common mutation in the CF community) is considered a class 2. It's important to remember that despite our “class” of gene we have a lot of control in how CF is presented in our lives. I've met people with my mutation that were very sick early on and I've met people with my mutation that are in their 60s. So to make a long story short, it's not about what gene mutation we have, it's about what we do to take care of ourselves.
I don't know how old I was when my mom first discussed CF with me, but I know I was very young. She presented it like this: some people have brown hair, some people wear glasses, some people are in wheelchairs, some people can jump high, and some people have cystic fibrosis. She made it very clear that I was a normal kid who happened to have CF and I was treated as such.
You know they do classify genes into one of five classes. The classes are often just a representation of how well our cell is functioning. For instance, class 1 has little to no cell function where class 5 has very close to normal cell function. My mutation DDF508 (the most common mutation in the CF community) is considered a class 2. It's important to remember that despite our “class” of gene we have a lot of control in how CF is presented in our lives. I've met people with my mutation that were very sick early on and I've met people with my mutation that are in their 60s. So to make a long story short, it's not about what gene mutation we have, it's about what we do to take care of ourselves.
I don't know how old I was when my mom first discussed CF with me, but I know I was very young. She presented it like this: some people have brown hair, some people wear glasses, some people are in wheelchairs, some people can jump high, and some people have cystic fibrosis. She made it very clear that I was a normal kid who happened to have CF and I was treated as such.
We did IVF but not PGD. Mandi had the CF screen for all 1600 mutations before we did IVF. Mandi is not a carrier of the CF mutation, so we went ahead with starting a family. If she did in fact carry the CF gene, we would have created our family through other means like adoption/fostering.
So good to hear that your boys are doing well! Just keep them faithful with their treatments and as active as possible and chances are they will have a very normal life.
**If you ever have a particular question you'd like to shoot my way, please feel free to email me at ronnie@cysticlife.org or find me on CysticLife!
Logging you in...
Jennifer · 724 weeks ago
RunSickboyRun 96p · 724 weeks ago
Jennifer · 724 weeks ago
Lindsay · 724 weeks ago
Strangely enough I also just took part in a study yesterday that is investigating why some people with the same gene mutations fair differently than others. More specifically it is looking at "modifier genes" and RNA function, which can explain why two people with the same gene can have such different outcomes. While yes, you are correct we DO have a lot of control over our CF by being proactive-- it's certainly mind-boggling to me when I meet someone with the same mutation, slacks with treatments, and is somehow twice my age and doing soooo much better (Side note: I DO NOT promote slacking). But if you're doing everything possible and still not doing as well, don't beat yourself up! (self-abuse isn't helpful) All you can ever do is try your best!
RunSickboyRun 96p · 724 weeks ago
@milesformaggie · 724 weeks ago
Melissa Jones-Weston · 724 weeks ago
RunSickboyRun 96p · 724 weeks ago
RunSickboyRun 96p · 724 weeks ago
rburkhalter 18p · 724 weeks ago
RunSickboyRun 96p · 724 weeks ago
rburkhalter 18p · 724 weeks ago
Anna · 724 weeks ago
Lauren B. 43p · 724 weeks ago
RunSickboyRun 96p · 724 weeks ago
Allison B. · 723 weeks ago
Mandi - don't worry about your "shrinking" belly - it won't shrink as much if you go a second time around! :)
Question: a prior post mentioned that Mandi was screened for all mutations prior to going through IVF. How was that done and did it cost anything out of pocket? Thank you!
RunSickboyRun 96p · 723 weeks ago
Mandi was screened by a company called Ambry Genetics and used a simple blood sample to test her for all 1600+ known mutations. We did not pay anything out of pocket because we "won" the test. I'm not sure what the retail cost of the test is.
Jessica · 722 weeks ago
There are actually six classes of mutations, and they don't directly range from 1-6 in "severity". Also, they don't indicate severity so much as the manner in which the CFTR protein and/or transport is faulty - a cellular issue that has not been proven to be affected by patient behaviors. There's a lot of great information with more detail and specifics in this article on the CFF website:
http://www.cff.org/aboutCFFoundation/Publications...
Taking care of yourself - treatments, exercise, nutrition, etc, are all still extremely important to put yourself in the best position for optimum health, but none currently available have any direct impact on the cellular-level mutation problem itself - that's exactly where these new treatments come in and why they're so exciting!
Lastly, a quick but important distinction: DeltaF508 is the most commonly identified mutation, but *double* DeltaF508 is a genotype, *not* a mutation. Everyone has two mutations, which are often not the same; the genotype identifies the pair, and their interaction with one another (which is arguably equally if not more important than the mutations individually). DF508 is the most *commonly identified*mutation, but DDF508 is not necessarily the most common *genotype*, and if it is, it's by a slim margin - it's not like there is a vast majority of double deltas and other genotypes are sort of "odd type out" in CF statistics.
Also, while that DF508 is the most commonly *identified* mutation , many scientists argue that may just as well be because it was the *first* identified mutation, and as more mutations are identified AND more individuals learn their genotype, that will likely change, as it doesn't make sense that DF508 would be the most common from an evolutionary biology standpoint.
The most important reason to know your (or your child's) genotype is because the new wave of treatments are all going to be rather class specific, if not mutation specific - knowing BOTH of your mutations lets you know whether new trials apply to you (so you can participate and get them to market quicker!) and if they don't, whether the science might be in the same wheelhouse and therefore might eventually - or at least more quickly than a treatment targeting a mutation in a completely different class.
Hope that helps clarify some things!
RunSickboyRun 96p · 722 weeks ago
jerry cahill · 722 weeks ago
RunSickboyRun 96p · 722 weeks ago