Why it's good to know your mutations...

[LouLou]

some people were asking this in the median age post and I thought I'd start a new post about it.

1) Knowing your mutations, you can have your child tested for CF and be absolutely sure they don't have it by confirming that both your mutations are looked for in your child (only one from you passes on). Also this will show if they are a carrier. This being said... I read an article in CF Roundtable who has family members with 4 CF genes in one body...not sure how that works.

2) It's my understanding that when there's a cure it likely won't benefit all CF'ers for example they might make a breakthrough in stabilizing the CFTR protein (possible cure for class II mutations) or they might improve chloride conductance (possible cure for IV mutations) etc.

3) If you don't know your mutation it makes me wonder if your mutations have ever been identified (in you and also ever). With as few of us as there are (something like 50K worldwide)... I think they should have everyone on record so that they can most accurately know what mutations are out there and what percentage of each. This should effect what they go after in #2.

4) to help science better understand modifier genes. (the reason why one person with two DeltaF508 copies could be 40 yo and healthy with another person with the same mutations 18 yo on the transplant list)

Please add reasons why you think it's good (or not good) to know your mutations and/or comments about why you agree or disagree with my 3 statements.

 

[NoExcuses]

well said! i agree 100% <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[imondeck]

The subject on mutations is a "bothersome" one with me. My son's mutations have not been found yet. Just the other day I brought it up to his pulmo (again). His pulmo was the director of the CF clinic here in Oklahoma City for several years before going into private practice.

He sees no reason to further the testing on finding my son's mutations. He says it doesn't change anything (re: the diagnosis of CF). He also told me that it would be best to try again in a year or two when more advances are made.
My son has had the Genzyme test and than the amplified Ambry. I have contacted Steve (Ambry genetic director) several times about this subject. We were going to try the promoter region, but like I said his pulmo does not think it is necessary at this point.

I don't know? Suggestions anyone?

 

[anonymous]

How do they test for the mutations?

 

[LouLou]

I think I remember that they swiped my inner check for cells but might be blood. It was 15 years ago so it's hard for me to remember.

 

[CFHockeyMom]

Sandra,

Do a search on here for Quest Diagnostics. They perform a much more extensive test.

 

[anonymous]

As far as I know all they did on my son was the sweat test - until I came on here in February I didn't even know about mutations. We go in June again and I am going to ask if they have that info or if we can get tested. I'm curious now.
So far he has the sinus, polyps problem and no major lung problems, but is on enzymes for digestion.

Mother of 9yr old boy w cf

 

[thelizardqueen]

I do know that they do blood tests on older people. My bf is being tested as a carrier, and I'm not sure if that's much different for finding out mutations, but they gave him a blood test.

 

[anonymous]

I'm pretty sure on the paperwork I get at the cf clinic that it has my mutation listed at the top. Do you all get the paperwork with your pulmonary and nutritional status? It has a stoplight on it and lists your nutritional status as green for good, yellow for caution and red for take action. They also give you a list of goals to work on.

 

[julie]

I was tested via a blood draw, so was Mark. His medical record always made mention of a double DF508 but there was never any confirming lab work. His doc said the same thing, "it isn't really going to make a difference, blah blah blah". But we both but our foot down and said we want to know, we have a right to know and if our ins. will pay, we think you ought to help us out with this. And he did.

I really don't know why your pulmo would refuse you of that. Sure, the treatments are the same now for all mutations but I personally believe it won't always be that way. Medicine progresses everyday.

I personally used Ambry for my carrier test and they did a great job. No complaints. However, I know I have heard of at least 1 person who had a test done my ambry and they found only 1 mutation but she was diagnosed via sweat test years ago. She went on to have a test done by Quest and they found both mutations. I thought it was amy (adoble) but she had a different scenario with ambry versus quest. I KNOW that there is somebody on this site, or they use to be on this site who had that happen. Ambry does focus mainly on CF testing, But if I had to give my opinion, I'd state it's likely to believe that Quest might have a bit better of a test. Simply because they have been around longer, they have had the funding and ability to test and research for longer.... just my opinion though.

Lauren, I don't have any reasons to add to what you've stated, but I agree with it all. We will be having genetic testing on all 3 of our children (well, we only need ot do it on 1 of the identicals, but mutations DO mutate and drop out, even in identicals) and we know exactly what mutation we are looking for.

Speaking of drop out.. our doc. just shared with us a story in the New England Journal of medicine where IDENTICAL twins are different genders-seriously. They were boys (xy) and what happened after the embryo split is that one of the twins had a "drop out". The y gene dropped out so the baby is x nothing or xx (girl). But in all other ways, they are identical. Talk about a gender crisis. Had to share as you mentioned the person with 4 mutations.

Amy (adobel) on this board has 3 mutations. She hasn't been on in a long time, but if you search for her posts, she tells us what they are. Crazy!!!

 

[Emily65Roses]

Even easier for me... I always knew one was a DeltaF508, but didn't know the other. Last year I told my CF doc I wanted to know the other one so I could get them tattooed on me (heehee!), and so he tested me for it. It was so simple. He had me swish some Scope, spit it into a little vial, and then he sent it off. Two weeks later, he called to tell me what my other mutation was.

 

[NoExcuses]

My mom has 10 brothers and sisters and we wanted to know who was a carrier and who wasn't. My grandma was also tested.

In order to test for that, about 5 years ago, they had to genotype me.

Funny thing - the CF carriers are thinner than the others and have more sinus trouble.