WWYD - Genetic testing

cgss11 · July 2015

So my cousin called me last night with some kind of upsetting news. In her struggles to get pregnant, it was discovered she is a carrier for something called Fragile X syndrome. They did further genetic testing, and it was determined it was passed to her from her father, so my side of the family. She called me last night to let me know, that I may too be a carrier I guess. She herself is a genetic counselor, so I do trust her calling me and feel like this must be a pretty serious matter if she did (we don't talk otherwise).

I was fairly shook up when I got off the phone with her. I'm kind of a "the sky is falling" kind of person and jump to the worst. DH is much calmer and was like you could have this, you could not, you're not a doctor so don't even pretend to have the answers.

So the decision now is whether or not to get genetic testing done, which I'm not even sure is feasable monetarily? On one hand, I would like to know, but on the other hand I feel like it should just be left in God's hands and whatever happens, happens. DH and I had planned to start trying around the new year.

Fragile X basically causes severe mental disabilities (although its a range), autism, behavioral challenges, etc. I am a special ed teacher, so I'm aware of the struggles, but not sure if that makes it better or not.

Sorry for the word vomit, I just needed to get it off my chest, I told DH last night I almost wish she hadn't told me, ignorance is bliss sometimes, but since she herself is a genetic counselor, I trust she knows what she's doing. She said she had known for awhile, but didn't want to let me know right before or around my wedding.

julieanne912 · July 2015

I'd probably do it if my family had a background of genetic disorders. Not because it would change my decision to have the baby, but just to prepare myself for the future ahead.

A good friend of mine has 2 children with a genetic metabolic disorder that causes a lot of health issues for her kiddos. She got pregnant a third time (by accident) and so she had that baby tested... again, not to decide whether or not to keep the baby or anything, but just to mentally prepare herself. In this case, baby #3 did not have the disorder.

novella1186 · July 2015

I'm sorry you're going through this. I think you need to do whatever will give you the most peace of mind. For me, I would worry and obsess about it till I knew the answer so I would get the testing, but that's me. I think this is a really personal decision that you and your H need to talk about.

Maybe you could see a doctor that specializes in genetic testing and genetic issues just to talk about it and get some answers to your questions. And then you can decide where to go from there once you know more.

Best of luck with this. I hope things work out well for you and your H.

Maggie0829 · July 2015

julieanne912 said:

I'd probably do it if my family had a background of genetic disorders. Not because it would change my decision to have the baby, but just to prepare myself for the future ahead.

A good friend of mine has 2 children with a genetic metabolic disorder that causes a lot of health issues for her kiddos. She got pregnant a third time (by accident) and so she had that baby tested... again, not to decide whether or not to keep the baby or anything, but just to mentally prepare herself. In this case, baby #3 did not have the disorder.

The bolded is my feeling. This way you will have some insight of what could possibly occur and you can prepare yourself, not only emotionally, but educationally by doing research into the types of disorders this gene could cause.

Ignorance is not always bliss. It is sometimes better to be aware of what may happen, and then you can hope for the best but be prepared for the worst.

TrixieJess · July 2015

I come from a family that has a couple of things that can be passed on genetically. I was not going to have babies so I never opted for the genetic counselling. Fast forward to finding out that I was pregnant and I was immediately referred to genetic counselling. Thankfully, nothing was invasive and the counsellors were amazing.

I would recommend it even if you don't think you'll have children because you never know. If you can do anything that is non-invasive, you should be good.

huskypuppy14 · July 2015

cgss11 said:

So my cousin called me last night with some kind of upsetting news. In her struggles to get pregnant, it was discovered she is a carrier for something called Fragile X syndrome. They did further genetic testing, and it was determined it was passed to her from her father, so my side of the family. She called me last night to let me know, that I may too be a carrier I guess. She herself is a genetic counselor, so I do trust her calling me and feel like this must be a pretty serious matter if she did (we don't talk otherwise).

I was fairly shook up when I got off the phone with her. I'm kind of a "the sky is falling" kind of person and jump to the worst. DH is much calmer and was like you could have this, you could not, you're not a doctor so don't even pretend to have the answers.

So the decision now is whether or not to get genetic testing done, which I'm not even sure is feasable monetarily? On one hand, I would like to know, but on the other hand I feel like it should just be left in God's hands and whatever happens, happens. DH and I had planned to start trying around the new year.

Fragile X basically causes severe mental disabilities (although its a range), autism, behavioral challenges, etc. I am a special ed teacher, so I'm aware of the struggles, but not sure if that makes it better or not.

Sorry for the word vomit, I just needed to get it off my chest, I told DH last night I almost wish she hadn't told me, ignorance is bliss sometimes, but since she herself is a genetic counselor, I trust she knows what she's doing. She said she had known for awhile, but didn't want to let me know right before or around my wedding.

Who is her father related to on your side? Is it your mother's brother or your father's brother? Sounds like her father must have had the premutation, not the the syndrome? The premutation carrier has a higher chance of having fertility issues so you may want to get checked if you are concerned.

It's really up to you if you want to know or not. I would want to know, but it's an individual choice.

cgss11 · July 2015

Yes, I believe he has the premutation. As far as I know, no one in my family has had the syndrome? I'm debating if I want to ask my Mom or not. My cousin is having fertility issue, which is how this all came to light. It's a little complicated, but its my mother's - sister's - son. Then his child, who is the one having trouble now.

So hopefully this is all just a thats really removed from me situation. I'm going to make some calls though to at least figure out what my insurance might cover for the testing.

redheadbride15 · July 2015

This is my field. What you're feeling is completely normal - everyone has their own personal take on whether they want to know the information, and if they do, what they would do with it. There are no right answers. As has been pointed out, being a Fragile X carrier does potentially have other health implications in addition to the risk of having an affected child. My advice would be to schedule a visit with a genetic counselor. A good one will be able to walk you through the facts (there is a certain risk that can be calculated based on who in your family is the carrier - in this case your cousin and your uncle, I presume), tell you what your options are, and the counselor should do this all in an unbiased fashion that does not pressure you to do one thing vs. another. They can usually also offer advice on insurance coverage. Basically, it's a commitment-free educational session. You learn some things, go home and discuss, and hopefully feel confident that you've made an informed decision.

It's becoming a routine thing for women to be offered genetic testing either before planning a pregnancy or while pregnant - Fragile X, cystic fibrosis, spinal muscular atrophy, sometimes whole panels of genes if you are of a certain ancestry (such as Ashkenazi Jewish). So I think it's great to talk about in these forums because it affects all of us - even those without a known family history.

WinstonsGirl · July 2015

Personally, I'd do the testing. I would want to make a fully informed decision about possibilities before I got pregnant so that I could decide if we wanted to go through with the possible risks.

Good friends o fine found out they're both carriers of something when their second kid was born. He had PKU (liver can't break down protein, so it turns to ammonia and poisons the brain, I think). He started seizing and spent quite a bit of time in the hospital. They tried an experimental treatment that didn't work and he's now had a liver transplant (from his Dad) which has "cured" him. But he's way behind in feeding behaviour, from being fed through a tube for the first year, and he's going to be on anti-rejection drugs for the rest of his life. They've decided now to not have any more kids cos of the chance of passing it on again. They wish they had known before so they could know what they were getting into rather than being thrown under the bus when it happened

huskypuppy14 · July 2015

WinstonsGirl said:

Personally, I'd do the testing. I would want to make a fully informed decision about possibilities before I got pregnant so that I could decide if we wanted to go through with the possible risks.

Good friends o fine found out they're both carriers of something when their second kid was born. He had PKU (liver can't break down protein, so it turns to ammonia and poisons the brain, I think). He started seizing and spent quite a bit of time in the hospital. They tried an experimental treatment that didn't work and he's now had a liver transplant (from his Dad) which has "cured" him. But he's way behind in feeding behaviour, from being fed through a tube for the first year, and he's going to be on anti-rejection drugs for the rest of his life. They've decided now to not have any more kids cos of the chance of passing it on again. They wish they had known before so they could know what they were getting into rather than being thrown under the bus when it happened

Another reason to get the genetic testing is not everything is screened at birth. PKU happens to be one of the newborn screening tests, but there are a lot of other genetic diseases that are not screened for.

kvruns · July 2015

I met with my Dr a few weeks ago for annul exam and she mentioned genetic testing and gave me a brochure. She said some people want to know ahead of time but for others it could be something to worry about unnecessarily so I needed to decide. For me I wouldn't want to wonder about it before we ever got pregnant and told her I would cross that bridge if we get there but didn't want to do it ahead of time and she said that many other patients are the same.

I might feel differently if I knew I could have a condition but I guess it would depend on if that would make me change my baby making plans or not. If it wouldn't change anything then I wouldn't do it until I was actually pregnant

sarahufl · July 2015

Knowledge is power, IMO. I like to know all the information I can before making decisions.

That said, it would be like a dark cloud so I can understand your hesitation.

madamerwin · July 2015

H and I met with a genetic counselor a few months ago as part of the IVF screening process... She asked us both a ton of questions about both of our family histories back three generations. She drew out a family tree, with every grandparent, aunt, uncle, cousin, cousin's children, etc. She went through every family member on the chart asking about their mental and physical health, birth defects, still births, miscarriages, developmental disorders, etc. She also asked about our ethnic backgrounds, since certain genetic disorders are more prevalent in specific ethnic groups (for example, there is a higher prevalence of Cystic Fibrosis and Taye-Sachs disease in Ashkenazi Jews).

After going through this exercise, as well as the likelihood of various other possibilities (like Down Syndrome) she told us that while there is always a risk of something going wrong, our family history and age gave her no reason to recommend genetic testing. H and I decided, based on our conversation with her, not to do any testing. HOWEVER, if I found out someone in my family was a carrier for Fragile X or something like that, I would probably opt for testing.

WinstonsGirl · July 2015

@huskypuppy14 - And he was screened at birth. The test missed it somehow so they didn't know until 5-7 days in when he started seizing

cgss11 · July 2015

Thanks everyone. I decided to start with a check up with my gynecologist. It's been a few years since I've been anyways. I'll bring it up with them, and my future plans for ttc and I guess go from there and see what they suggest about genetic testing.

CMGragain · July 2015

In DH's family, there is a rare genetic disorder called spastic hereditary parapalegia. Of the six siblings in his father's family, five had the gene, and suffered the effects to some degree. We requested a blood sample be drawn from FIL the day he died and had it sent to the people who are studying this disease. Both DH and our two children were relieved to learn that FIL was the only one of his siblings to NOT carry this gene. I know DH has always worried about it. It is good to know we don't need to worry anymore.

Knottie1438010351 · July 2015

Whatever is, is. Not knowing does not change anything. I would rather know.

WWYD - Genetic testing

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