Genetics Counseling - Has anyone been???

[Piglet]

We are considering having another baby. My DD has a genetic disease and we know what the chances are of having another with the same problems and of the tests that we could have done to determine if the baby would have it before being born.

What other information would a genetic counsler be able to give us? I really hate to pay for a visit if we already have all the information they would be able to give us.

Anyone ever gone to one???

Melinda

 

[Trish5768]

Yes, we had genetic counseling when we found out through an ultrasound that our DS had an omphalacele. We had to go to West Penn in Pittsburgh and be counseled etc. and had a lot of high tech sonograms done.

I think that since you already know that the chance exsists that there really is nothing more they can do for you other than maybe tell you whether the baby does have it or not.

My DS is 6 now and doing great. Ended up not being as horrid as they made it out to us. He had surgery at 2 days old and has been fine.

Good luck to you!

 

[Kimberle]

Yes, we did too. Personally, I think every couple should have this. You really learn alot.

You should have the counseling before trying to get pregnant.

 

[RachelEllen]

We went recently because of a genetic disease my cousin has. It completely depends on the condition. The amount they can predict prenatally continues to increase at an amazing rate. Just five years ago, they could not have tested me for the gene for the disease I was interested in. Now I was able to find out I was negative, which was a great relief.

I was able to get this very new test because of a study protocal the cousellor knew about. So perhaps that's the sort of thing the counsellor can help you with.


So if you have questions, I bet it would be a good experience.

 

[Bella the Ball 360]

I had it 16 yrs ago along with amnio. Luckily I had a doctor who was considered to the number one man in the country. It really gave me peace of mind to know what could or could not happen and thankfully nothing did. My niece has an orphan disease (on my husband's side) which is much more common with two partners of the same ethnic background. It is too bad because the child has lots of problems and there is little if any hope of a cure because there are so few children with this problem. I just feel it is better to know what you are up against before you are in the middle of it.

 

[psupple]

I had genetics counseling a couple of weeks ago. I did not learn anything new than what I had already been told or read. They basically told me I had been clinically diagnosed with the disease, and that the genetics testing was not accurate enough at this point to determine for sure.

The good thing is that they are going to provide a write up of the disease and my diagnosis so I can pass it along to my family members. There is a chance that one or more of them also have this but have yet to show the symptoms related to it.

Now I feel I've done my job and can treat myself going forward.

 

[Piglet]

Thanks for the replies - We do know all about my DD's disease, as we have been living with it for almost 8 years. We actually know the name of the mutation in the gene that my DH and I both have that causes it. We have also attended conferences and met with parents and doctors that are experts in it. I also know that there is a 25% chance another child would have this disease and that it can be detected by an amino if we wish to know before birth.

- So could they tell me anything else?????

Melinda

 

[RachelEllen]

Originally posted by Piglet
Thanks for the replies - We do know all about my DD's disease, as we have been living with it for almost 8 years. We actually know the name of the mutation in the gene that my DH and I both have that causes it. We have also attended conferences and met with parents and doctors that are experts in it. I also know that there is a 25% chance another child would have this disease and that it can be detected by an amino if we wish to know before birth.

- So could they tell me anything else?????

Melinda

The only things I can think of would depend on the very personal issue of how much prenatal testing you want and what you want to do with that information. Some diseases now can be diagnosed at such an early stage that people can do IVF with precleared embryos. Even if availabe, however, some people don't wish to go through the expense or trouble of this, or mayt consider it unethical. Some people also would consider termination for some diseases and want to know about the risks of amnios and other testing that can be done at even earlier gestation (like early amnio and CVS testing). Some people really want the amnio just so they know what to expect and should be very clear on the risks to any fetus with the amnio itself.

I'm sure if you've been dealing with genetic disease for that long, you know that these issues are out there, though. I realize my answer brings up some issues that can be very upsetting for some people (like I mentioned I have a first cousin with a very serious autosomal recessive disorder), so I hope this is more informative than upsetting.

Rachel

 

[ladytemptra3]

The main purpose of a genetic counselor is to research the gene within the family, determine if the parents are carriers, and calculate the probability that a child would inherit the disorder. Since you already know these things, there isn't much they can do at this point. Once pregnant, it is possible to test the unborn child for the disease. After the results, the counselor will provide information and support groups to assist the parents in whatever decision they make (to keep the child or not, then if child has the disorder).

I have my degree in biology, and I'm going to get my master's in genetic counseling. I haven't started classes yet, but I've done a lot of research in the area. I hope this helps.

 

[j's m]

We were required to go for genetic testing before my amnio 10 years ago. But it was a waste of time for us, since I was already pregnant with my first at age 43. All it did was scare us even more waiting for the amnio results, which thankfully came back great.

Melinda, our good friend's grandson, age 5, has GSD. Does your daughter have to eat cornstarch, too or are there different forms of the disease?

Good luck, whatever you decide.

 

[DMRick]

My daughter had it, after her first early pregnancy tests showed that our grandson would be born without a brain stem. All follow-up tests did not look good, just one disaster after another, and the genetic conselor recommended terminating the pregnancy, as she said our grandson would prob not live long after birth, if he made it til then. My daughter and sil decided to continue with the pregnancy, as she was very much anti abortion and pro life. I give her a lot of credit..she stood up for what she believed was right for her. We said we'd back whatever she did. As the baby grew in size, things started to look better, although no one would say all was fine..and he became what doctors called a miracle baby by the time he was born.

Our grandson was born with everything he was suppose to have (although a tad small)..although he did have a twin, unknown to all, and that baby had died, again unknown, in utero. Apparently, the tests seem to have had something to do with that. Our grandson is in the 99% in the last countrywide school testing...although we would have loved him no matter what % he was in. He's 11, and sometimes I still get tears when looking at him, thinking of that genetic conselor so easily saying.."you should terminate".

Nothing, including genetic testing is 100%..and the worrying an entire family can go through, if you wouldn't abort anyway, is just not worth it imo. My second daughter had two children after this..with no testing, no ultrasounds..etc. She just took what she got!

 

[phillybeth]

Originally posted by Piglet
Thanks for the replies - We do know all about my DD's disease, as we have been living with it for almost 8 years. We actually know the name of the mutation in the gene that my DH and I both have that causes it. We have also attended conferences and met with parents and doctors that are experts in it. I also know that there is a 25% chance another child would have this disease and that it can be detected by an amino if we wish to know before birth.

- So could they tell me anything else?????

Melinda

You seems very well informed, I don't think there is much a genetic counselor could tell you, except perhaps what one poster mentioned about clinical tests or trials going on that might benefit you.
I might check and see though if technology has advanced to the point that this mutation could be detected with Preimplantation Genetic Diagnosis. That would mean going through IVF so the embryos can be tested extremely early in development (4 cell stage I think). Not all genes can be tested this way yet though.

 

[thelittlemermaid]

Our DD was born with Down Syndrome and her doctor had us go to one. That was nothing but a waste of our time. She didn't tell us anything that we didn't already know. She basically made me mad with the remarks that she made. Thankfully by that time she was done or I would have knocked her out.

Then about 3 years later our DD's doctor wanted us to go back and see another genetic counsler. We told him about the last one and really didn't see any point to go to another or want to go. Come to find out we had to see this other genetic counsler before our DD could get the test done that she needed.

I'm telling you, this one even made me more mad! This one asked my DH and I what kind of background we had {ansetor ?} wise. My DH is Irish and I am Roman/Italian. This lady had enough nerve to ask us if there was any chance we could be related? WHAT???? There is no way on this earth that we are related lady!!! AAAHHH!!!!

So I guess it depends on the situation on why you have to go. I personally feel they are nothing but a waste of time.

 

[phillybeth]

I'm sure you know the degree of relationship has absolutely NOTHING to do with DS- that 'counselor' sounds like a whackjob.

I know DS genetics pretty well, I have an uncle with Down, and only about 5% of cases are due to an inherited translocation.

 

[RachelEllen]

Anyone discussing genetic risk has to discuss consanguinuity. It doesn't effect DS (like a previous poster said), but it's a huge risk for other genetic illness. But most people are tactful enough to explain why they are asking and not upset people! It's actually fairly common in some cultures.

 

[Piglet]

j's m - I sent you a PM - I think I know your friends grandson!!!!

Thanks everyone for your advice - I think we will skip the counseler. Not meaning to sound arrogant, but I suspect that I probably know more about my DD's disease than most doctors and medical professionals. We do attend a conference every year and many doctors that specialize in DD's disease attend and update us on info and progress made in research.

I am sorry that some of you have had problems with counselers - it is frustrating enough dealing with the disease let alone all the other issues medical professionals tend to throw at us.

Hugs for you all and best wishes for you and your kids & families!!!!

Melinda

 

[hrh_disney_queen]

Check to see how experienced your counselor is..

Here is my story:
I went for GC after I got pregnant at age 39. (Planned) The appointment was to coincide with my CVS, which unfortunately was after the GC. Which they did not tell me , but did tell me BEFORE I got there to drink a gallon of water...Anyway..the counselor was a very young girl, maybe 22. She must have been fresh out of college, because all she did was rattle off statistic, and flip through books (we were seeking GC because of my age, had already spoken with my doctor before I got pregnant.) , not really informative. When she gave us a statistic for birth defects that was a LOT worse than the one my OB told me, she could see the surprise/disappointment on my face. And she said...I swear to you, she actually said...

"Oh, that's not what you were expecting? Sorry, I'm just doing my job." (with a little nervous "teehee" after). Someone like this had no business counselling anyone, for anything.


I was so relieved that the tests turned out fine, that I never said anything about my experience with her. Everytime I think about it, I wish that I had.