New here, questions about prenatal genetic testing & CF possibility?

[anonymous]

Hello all,

I am 11 weeks pregnant and just rec'd word that I carry one of the CF genes, deltaF508. This is my 3rd child and I was tested with both of my other children, however I was NEVER told about me being a carrier.

My husband will be tested tomorrow, and 2 weeks later we should hear the results. I know all of the percentages and such, I'm still quite concerned.

My oldest daughter has a different biological father. I have NO way of getting in touch with him and since I was not told about this after her test, he was never tested. I'm planning on getting her tested as soon as possible. I'm not as concerned as her biological father was of hispanic origin and I have read it is more rare in that background.

My questions are :

If my oldest is tested and she is negative, does that mean she CF can still show up and I should have her tested often?

My youngest has had digestive and weight gaining troubles since birth but the Dr's have always brushed it off... I read that CF can present in poor weight gain & GI troubles in infants. Should I have my daughter tested now or just wait for my husbands results ?

I appreciate your help. I'm completely lost and have so many worries and thoughts going through my head... Thank you.

Pamela
oceanlver77@netzero.net

 

[JazzysMom]

I am sorry to hear that you were never informed of being a carrier. Congrats on the new baby coming. First question is once your oldest is tested through blood tests whatever the results are they are. The only rare chance she would need to be tested again is if she happens to carry a rare mutation of the gene that doesnt come up with the normal ones tested for. Your second question regarding your youngest. Given the issues of weight gain & GI problems I would have that daughter get a sweat test & genetic blood work. The sweat test is to determine if she actually has CF (the most common/quickest/least invasive) & the blood test would verify the results of the sweat test &/or give you knowledge of any gene she might be a carrier of. I would not wait for the results of your husbands test. Even if his comes back negative its better to know if she is a carrier or not.

 

[anonymous]

You can do one of two things:
1. have both the fathers of your children tested for the gene (genetic tests took my family three wks to get back)
2. have your children tested with sweat tests (takes 24 hours to get back, but a couple of weeks to schedule)
3. have your unborn child tested while in the womb or when it is born

*if you choose option one and the genetic tests come back saying they don't carry the gene, then you don't have to worry about sweat tests for your children, they won't have CF

*if you choose option two then you will know automatically

*i am pretty sure they can test unborn children, ask your ob

 

[julie]

"if you choose option one and the genetic tests come back saying they don't carry the gene, then you don't have to worry about sweat tests for your children, they won't have CF "

CF is presenting to be a more and more complicated disease to diagnose because newer CF mutations are being discovered every day. The above quoted statement is NOT true, actually most of the post is inaccurate.

-People can be tested for CF by blood, show that they don't carry any mutations and still have a positive sweat test. Very rare but still possible. The opposite is also true, a person can have a negative or borderline sweat test but then test positive for a mutation.
-If it were me, I would have my children (all of them, regardless of different fathers) both tested by blood and a sweat test. And for the blood test, I would use a company such as ambry genetics which has the most advanced test for CF mutations and can currently account for/locate over 1000 CF mutations. Whereas companies like genzyme or traditional CF tests only look for the 25-85 most common. Great test if you know you and your spouse are carriers of a common mutation. Not so great if you carry a rare mutation or if one spouses' carrier status is unknown.

Delta F508 is one of the most common, but depending on the results of your husbands test, he (as well as your children) may need further testing. Do you know what company your testing is through and how many mutations they test for? This is really important.

Overall, I would recommend the blood test through ambry and depending on those results, maybe even a sweat test.

 

[anonymous]

Julie,

Thank you, that's a bunch of information. I'm a bit ovewhelmed here, just so much to think about.

Since I cannot have my oldest daughter's bio father tested, my pediatrician suggested I have both daughters tested. She didn't say exactly what test would be done, but referred me to a genetic councelor. I will definitely ask about the test that checks for 1000 mutations.

The test I had only tested for 32 mutations. I was positive for that Delta one, what does that mean? Should I too have that 1000 mutation test done as well as my girls?

What is the rate of adult onset for CF? Does anyone know this? I am not asking for an exact, just a round number to work with. I'm scared out of my wits thinking all of us may have it and not know about it.

If we all are tested, hopefully with that 1000 mutation test, is it a yearly test or once you're tested and its negative we're ok. You suggest having both the sweat test & blood test? I will ask the councelor about that as well.

THANK YOU all for your responses, I appreciate it. Basically, I just have to wait. Wait to get in touch with the genetic councelor, wait for my husbands blood work, wait to get the girls tested.... this just sucks all the way around.

Pamela

 

[julie]

Pamela, here is the information on Ambry genetics <a target=new class=ftalternatingbarlinklarge href="http://www.ambrygen.com/ts/ts_cf.htm">http://www.ambrygen.com/ts/ts_cf.htm</a>. Many doctors are reluctant to utilize them as they are brand new in this testing. I had to print out all the insurance information, present it to my doctor, get him some contact information and he had to get comfortable about it. Then he fought with insurance companies on our behalf to get it covered. They finally authorized it, but not without a fight.

<i>Since I cannot have my oldest daughter's bio father tested, my pediatrician suggested I have both daughters tested. She didn't say exactly what test would be done, but referred me to a genetic councelor. I will definitely ask about the test that checks for 1000 mutations. </i>. The genetic test is a blood test, regardless of what laboratory you have do it. The ambry test is just more advanced than any other test. I did hear a while ago that there was another laboratory that was advertising this same test, it was quest laboratories.
<a target=new class=ftalternatingbarlinklarge href="http://www.questdiagnostics.com/hcp/topics/cf/cf.html">http://www.questdiagnostics.com/hcp/topics/cf/cf.html</a> You may want to look into what quest diagnostics offers as they have been around for much longer than ambry (or at least more known/popular for longer). Doctors may be more comfortable to offer that test.

<i>The test I had only tested for 32 mutations. I was positive for that Delta one, what does that mean? Should I too have that 1000 mutation test done as well as my girls? </i> Delta F508 is one of the most common CF mutations. I believe you said you were already aware of the statistics so I will spare you that unless you ask <img src="i/expressions/face-icon-small-smile.gif" border="0">. The only reason why I would recommend you get tested again is if you think you actually have CF. If any of your children did have CF, they would carry the same Delta F508 mutation that you carry. If they did have CF, that second mutation would be dependent on their father(s).

<i>What is the rate of adult onset for CF? Does anyone know this? I am not asking for an exact, just a round number to work with. I'm scared out of my wits thinking all of us may have it and not know about it. </i> I am not an adult diagnosed with CF, so I can't speak to the exacts-hopefully someone else can share their personal experiences. But that being said, many of the CFers diagnosed as adults had symptoms all their life but doctors ignored it, chalked it up to something else, their symptoms weren't that bad but then started getting worse and more complicated... and they pushed for all sorts of tests-and that's how they were diagnosed. I don't believe anyone who was diagnosed as an adult had a "sudden onset" with symptoms out of the blue. I could be wrong because I haven't had the personal experience, but from all those I have conversed with, it didn't just appear. Do you have any lung, asmathic, weigh gain problems, digestive issues, foul and unformed poop?? many of those are symptoms of CF, not all and of course I didn't cover them all-but I hope you get what I mean.

As far as how often the test needs to be repeated... Ambry contacted me about 5 months after I had my CF carrier test (for our IVF) to inform me they had created a new part to the test and they contacted my doctor as well. My doctor had more blood ordered and sent it off to ambry. I believe it is standard for ambry to contact patients when they update their tests/find new mutations. You don't have to get the newer testing but they do offer the option.

I know its a lot, but I hope this helps. Feel free to email me whenever you wish division902@hotmail.com

 

[anonymous]

Julie,

Thank you so much. Its obvious you're incredibly informed about this disease, I'm grateful to have found this place.

The pedicatrician has a referral into a genetic councelor. That is where we'll get the girls tested, and possibly me. I don't know how I got this gene, if one or both of my parents are carriers, so I'll ask if I need to be tested as well.

No, none of us have any of those problems. I have asthma but none of the other symptoms. My youngest had trouble gaining weight but that was because she got a slow start due to me breastfeeding. She had digestive troubles that went away once we removed cows milk from her diet. She's perfect now. So I guess that's something to be reassured of. My oldest has none of the symptoms, so I can feel comfortable about that.

We are going to Quest diagnostics. I would try that embry one but dang, it took me days and tons of hours on the phone just to get these idiots to let my husband go to this lab. Paperwork addicts. He's getting the 32 mutation one. I'm praying that will be sufficient. I don't have the energy to fight them for more tests. This whole week has completely exhausted me. I've had serious mood swings, high stress levels, and non stop trials. Its not good for the baby, I'm so glad its almost over.

They said it will take about 10-14 days for the results, which is what I expected. There's nothing I can do but wait and have faith that God will take care of us. I'm just praying everyone will be healthy. This is a lot to go through, and such a shock to everyone you know?

Thank you again for your information. I am the type of person who feels more comfortable about a situation the more I know about it. Unfortunately I've searched for CF, gone on websites and such but only rec'd the SAME exact information. I'll be glad to get to that councelor.... and again, am so thankful for all your help.

God bless, Pamela

 

[julie]

Good luck with everything pamela. Please let us know what the results are and if you need someone to talk to in the meantime... we are here.

Take care

 

[anonymous]

Pamela, given that your insurance company will only cover quest diagnostics and they only test for 32 out of something like 1200 mutations, I suggest you get your children sweat tested. It's a simple, non-invasive test and, best part, you have results within hours usually, days at worst (vs weeks of waiting with genetic tests.) There is currently NO way to conclusively rule out cf 100%. However, if your dh tests negative on the simple screen and your children have negative sweat tests, that combined with the lack of symptoms should be a fairly decent indicator that your children do not have cf. Obviously, if their health condition changes at any time, you'll want to have further testing with a full ambry screen.

In the meantime, ask your pedi to write orders for your children to be sweat tested at the nearest children's hospital. Again, it's a simple, non-invasive test that's relatively cheap and should be easily covered by most insurances. For what it's worth, a genetics counselor would NOT be the one to order this test, your pedi would be...

 

[julie]

Actually, quest does have an advanced CF test that is somewhat comparable to Ambry Genetics CF test. If you got that far with quest, I would request the advanced CF test.