Jewish Carrier Panel - Can Anyone Tell Me Their Experience?

Hi, I don't know too much about the testing process. I only know my sister-in-law's experience. She is a carrier of Tay Sachs. Her NOW ex-husband is of French Canadian descent, but he refused to be tested, so she opted for the amnio for both of her pregnancies. Both babies were born healthy, but her 8-year-old daughter is a carrier. She is dreading the day when she has to "tell" her daughter that she is a carrier of Tay Sachs. She has repeatedly told me that she is so glad that she has been tested and that she had an amnio performed on both pregnancies. Hope that this helps.

I took the panel and realized afterwards that I didn't need to. It is an easy test, but none on my family is a carrier. Do some digging and see if anyone has it.

Hi L....
Although I'm not of Jewish descent I thought I'd share my experience with you. Approximately 8 weeks ago my formerly healthy 21-year-old son had to have a liver transplant. He had an autosomal recessive disease called Wilson's Disease. Both his father and I are carriers though we did not know this until our son became ill. This disease is so rare that there are only approximately 7,000 people in the US with Wilsons. Had we known earlier we could have started him on zinc, yes...zinc! which would have prevented the copper in his system from destroying his liver. There is no history of liver disease on either side of our families so this was a complete surprise.
Why would you want to know? Not necessarily to end the pregnancy but to prepare emotionally, educationally AND financially for a child with special needs. It would give you the opportunity to research hospitals that treat the disease and to make contact with physicians who have experience with it.
We were forced into a situation where we had to make a split second decision on where to have our son treated. Luckily it turned out well for us but we have thousands and thousands of dollars in medical bills yet to pay.
I would advise you to talk to others who have had a child with the diseases you mentioned. I'm sure there are plenty of online support groups that could share their experiences with you.
Remember, even though there is "only" a 25% chance of passing something on....it can happen. Look at what happened to my husband and I.
S.

L.,

I'm not Jewish- so I have no idea what kinds of problems you/your baby would be at risk for, but I think you touched on the correct way to go about it...Figure out how you would feel/react if your baby was affected. Would you risk conceiving and terminate if it did affect your baby? or would you keep your baby and love and nurture it while accepting that the Lord wanted you to have him/her?

It not easy and I am not trying to sway your decision in any way- I'm only 34 now, but last year when I was pregnant, the Amnio/Blood tests that are done on women over 30 scared me to death. My husband and I discussed it while we waited for no news (good) or bad news. Everything worked out fine- our baby is perfect, but I still don't know that I would be strong enough to take care of a child with special needs. My husband, though, did not even waver. He said that whatever the outcome, it was still our baby and we would love and nurture him/her if that's what God wanted for us.

If you feel that you could love your baby unconditionally even with special needs, maybe you shouldn't bother having the testing done.Do whatever feels right to you.

I hope this helps give you some perspective.

-I.

PS
I have gone back to read others' responses and I do think that possibly, if for no other reason, just to know and be able to prepare your future problems for anything in their futures, would be a good reason to get the testing done. Again, good luck with whatever you decide.

Hi L.. I was told the same thing about the testing...we opted not to do the test. There were a lot of scare tactics they tried to use, but no matter what we were going to have a baby, A baby that was truly a blessing. Someone else commented on how they had taken a different test and the results showed a chance the baby was going to have down syndrome. As well we went through the exact same thing. When the blood is taken for this specific test at 15 weeks (I believe) A few days off can give you positive results, that is what happened to me,...My point is, technology sure is great(when the time is right) but when it is a gift, a miracle of life....It is suppose to be whatever it is to be....

L.,

I am not Jewish, and don't have experience with this but I do have something I thought my be helpful.

When pregnant with my son, my second pregnancy in under five months (miscarried and got pregnant even when trying not to), that blood test we get done early on came up with the results that there was a 40% chance my child would be born with downs syndrome. So, my doctor at the time recommended I get a Amnio done to verify.

I really didn't have a lot of information on the process or how it would help, but I followed my doc's advice and went to the specialist. We sat down with a counselor who explained the results, and told us the whole thing about genetics and disorders, syndromes and how all the works. She said that there was a good chance the even the Amnio would not present results that would be definite.

I was even more confused about why were there! When the specialist came in and did his ultrasound he told us that we were having a boy and that he could not see anything conclusive...so, did we want the Amnio??

In a split second, I said 'no'. After getting all the facts about the test and how it's done and that even after all that, I still might not know for sure??? After all, this was my baby and what was I going to do if I found out that he was going to be challenged??

I decided that either knowing or not, wouldn't change that I was already in love with this person who I had created and if there was a challenge ahead of us greater than just raising a child, I would deal with it when the time came.

My son was born premature, 8 wks, but now is now a happy and healthy little boy of 2 years old. No disorders or syndromes...just allergies and lactose intolerance!!

Good luck with your decision!

I definitely recommend it. As one of the other moms pointed out--knowledge is power. And I definitely agree with others that this is a tool (the info) to pass on to your children in the future. I am Sephardic, so there are fewer "genetic disorders" that I need to be tested for but I completely understand how you feel. It's not like you can change anything because now you KNOW that you carry such a gene. I had a miscarriage in my 2nd trimester in august so they are running a million tests on me to find out what happened...if I'm a carrier of anything... etc... That's why I can completely understand how you feel--and the costs too. My Dr. sent me to Dr. Barbara Crandall at UCLA who is amazing. They are testing me for HIBM which Sephardic Jews are carriers of and was telling me that there are actually 11 genetic tests they test for at UCLA for Ashkenazi Jews. I know--that's really scary. Please do this even if it's just for piece of mind. You want to be prepared if there is anything you need to think of. If you have any other q's don't hesitate to send me a message! Good luck on your decision and I wish you guys a happy healthy family.
Love,
Sara

This is a very important question and I thank you for raising the topic. A lot of Hillel's, Jewish College Groups, offer Tay Sacs testing for college students at a very subsidized rate. It doesn't help you now, but if you know any college students, or when relatives of yours are enrolled in college, it is a way to get the information before it is a highly emotionally charged topic. Both my husband and I were tested while we were in college, before we had even met each other, and so of all the major decisions we faced as hopeful parents, this was not one of them. I believe there is a gift of information, though we did not want to know the gender of our child, the more informed our doctors are the better they can help us. There is also a lot of information in our blood and DNA that we don't know is in there. After 5 generations of brown haired relatives my husband and I were shocked by the bright orange glow of our son's hair. I wish you a lot of luck and the blessing of a healthy baby.

Hi there,

I was pregnant when I was 40,so I had alot of emotional decisions to make.The Genetics counselor also recommended the tests you mentioned.I'm Jewish,my husband is not.What I didn't know at the time, was that people of French Canadian ancestory are carriers of the Tay sachs gene..I had him test first,as I assumed he would be negative...He turned out POSITIVE!! I took the test and was found to be negative...We now have this information for our daughter,so when the time she has kids she'll have that info.I think the most important thing with any of these tests,is that you search your heart to see what you would do with the information the tests reveal!!

Best of luck!!

Hi!

My husband and I are both of eastern European Jewish descent. We opted for me to test. If I came back a carrier for anything, we'd proceed with testing for him. Both our parents had testing for Tay Sachs and we knew neither of us was a carrier for that. I turned out to not carry any of the genes for which I tested.

I highly recommend testing. These diseases are very serious--some resulting in death.

Here are some links:
http://www.questdiagnostics.com/hcp/topics/ashkenazi/ashk...
http://www.ntsad.org/S06/S06TScarrier.htm
http://www.makgene.com/index.cfm?fa=content.display&c...

Apparently these tests are via blood testing, so it's not invasive.
Lots of info. in these links.

Personally, you'd have to really do some talking about it with Hubby... and learn all you can about the testing and results.
Bottom line though, is HOW you would handle it, if perchance you got "positive" results? Really do some soul searching. It's such a personal process.

Me, I had an amniocentesis, twice, with both my pregnancies. I am very glad I did. For me and Hubby, it was important for us to know the "health" of our baby, before it was born. No matter what, we would have continued the pregnancy. But, we didn't want any "surprises" down the road... and wanted to know FULL information and genetic status of our children, beforehand, so that we could be prepared the best we could. I never regretted the testing. I encourage it and would do it again if I had to without hesitation.

On the other hand, I have a cousin, who on their Mother's side of the family, they carry a disease in which it causes extreme curvature of the spine (scoliosis)..... to the point it can be debilitating for the one affected by it. For this reason, my cousin and her 2 siblings, although married, have chosen NOT to have children. This is their personal decision. They are at peace with it.

All the best,
Susan

I was 41 when I got pregnant.I had cvs ( like amnio, but done vaginally) very early in my pregnancy (at 10 wks). Both my husband and i are of ashkenazi descent. my daughter was born healthy and throughout my pregnancy I didn't have to worry about any of these things They also counted to make sure all the right chromosomes were present. I had cvs because at 41 I was considered high risk. If you are not pregnant yet I am curious as to why doctor wants you to have the test first.? I don't know how likely the chance of these affecting your child. I can't remember the percentages now. i haven't heard of pre testing before. conceiving a baby is never a definate. we weren't TTC but i know so many people who have had difficulty conceiving in the first place!

Hi L.,

If you feel the panel is expensive, imagine how expensive the care for an ill child will be. It will help you make your decision as to how ready you are to have a child who may possibly bring some extra needs and bills around the house. Some say you will never be ready for that and to just go for it, but you have a little heads up to think about.

Best Wishes.
C.

I am Jewish and my Doctor had me do the tests before I got pregnant and it turned out that I am a carrier for gaucher's disease. So there was the possibility for it, but the disease is manageable with drugs.

I would have one of you do the test and if it comes up with anything serious, the other can be tested.

Good luck.

This is standard procedure in Israel, where we live. I didn't think much about it. However, a baby in my child's daycare just died...it turned out she had a rare genetic disease, of which both the parents were carriers. It was a big tragedy...not all results of genetic diseases are handicaps or disorders. Some cause death. Just something to think about.

Hi L.,

When I was pregnant with my second child, my ob (also the moyel) advised me to get a Tay Sachs test because I'm of Ashkenazi descent and my husband, adopted, could be. My insurance didn't cover it but I decided knowledge was power and paid cash. We were negative.

Even though my second child was my last pregnancy, at least I know and I can properly advise my sons and their wives if and when the time comes. Thus, I would encourage you and your husband to be tested for the same reason. Knowledge is power and you can make better decisions with more knowledge.

Good luck!

L.,

Its always a scary picture when dr's start talking about tests. Both my husband and I are of Ashkenazi Jewish decent. I was 27 for my first preganancy and had some testing which I came up negative. My second time, I was 37 and once you are over 35, every flag gets thrown up. They took so much blood from me, the person at the lab had to look up most of the tests! Once again, I came up negative on everything. Only one of you needs to take any tests because in most cases (and verify with your dr's), you both need to be positive to pass anything on. There is no need to become concerned unless you have some positive results and then the other person can take the tests. Having a baby is one of the most stressful and worrysome time in your life along with one of the most beautiful and wonderful time too. Relax, do your research and go from there. Good luck.

I had the tests done once I was already pregnant, and it was no big deal. i don't think you need to do it ahead of time, unless that would impact your decision to conceive. for the record, my daughter is healthy and lovely :).

I remember getting that panel done. They take a ton of blood! I would definately recommend it. Wouldn't you want to make sure that your baby is okay? Luckily, everything in our panel came out okay. It gave us extra peace of mind.

My RE had recommended it also but not for the both of us. He mentioned that if my husband tested positive then they would test me. He tested negative. My regular ob did a cystic fibrosis test sometime during my pregnancy and Itoo was negative.