Stressed About Prenatal Test Results: In Need Of Support

[dharmaBum]

I recently found out that I have a low-level asymptomatic Fragile X genetic mutation that I may pass on to my children, who in turn may develop higher levels of the mutation. Their offspring may develop Fragile X syndrome or associated impacts. At each generation, there is a 50% chance of transmitting the impacted gene, and a 50% chance of not passing it along.

I already have one 7 year old and am 4 months pregnant with our second. Our first has no signs of the associated health problems, but hasn't been tested for her status as a carrier. The child I'm carrying should not have health/behavorial impacts, but has a 50% chance of being a carrier. If our children are carriers, especially higher level impact than I am (it can increase in severity over generations) they will be advised about whether or not they want to have children and take the risk of passing on the gene or going through selective invitro fertilization to make sure a child they carry does not have the impacted gene.

My husband has not been tested to find out his status.

I'm kind of freaking out about this. There's nothing I could do to change my status. It's genetic. It happened at conception. I just don't know if I would have gone ahead with having this second child if I had known about this genetic risk. Like any parent, I don't want our child to suffer. The upside is that within the disorder, my risk status and the child's potential impacts are low.

I just got this news a few days ago and each day it seems to settle in me more deeply as a sadness. I assume that is a natural grieving process. I can't really talk to my husband about it, because I've been sick almost the entire pregnancy, and frequently in the 7 months leading up to it, on top of the back and forth PTSD symptoms that are nothing he signed up for. He's stressed and hasn't voiced any concerns about the test results at all.

I'm just needing some general contact and calming on this topic. Can anyone help?

 

[Britt.f7]

dharmaBum, being pregnant is already an emotional time without all the other things causing complications. Whenever a parent has a child there is a risk of passing down genetics that are more harmful or scary then the color of the child's hair. The difference, right now, is that you know. Knowing is suppose to make people feel more prepared, but I'm not sure that in all cases it does.

My grandfather had a murmur his whole life and a heart defect, he died of heart disease fairly early in life. My mother, his daughter, did the same. I was born with a heart defect(fixed) and have always had a murmur. I do have some additional heart defects that may or may not be corrected in the future. So far I do not show any signs of additional heart disease, for which I am grateful. Now whether this is genetic or not, I do not know. It does seem quite unusual that all three of us had issues. Both of my sons, which we made sure to check on by our doctor's recommendation, check out fine.

In my late thirties we discovered that I had an autonomic nervous system disorder which they believe I was born with but just got worse after the birth of my children. In my mother's early 60's she was diagnosed with the same. They said it runs in families and is usually passed down from the mother. My grandfather, yep, same one, had shown similar symptoms in his lifetime, not my grandmother. My son is showing some of the same symptoms I had growing up. I do not want him going through what I now am. The only thing I can do at this point is watch and hope that they come up with a better way of handling the condition then they now do. I have hope for that because I know they, over my lifetime, have come up with better options for my heart ailments.

Now, if you are wondering if I would have had children knowing what I now know, or wish that my parent's had not had me, the truth of the answer is that I am not sure. I wish that my mother had not given me that part of her gene's but that is neither here nor there. It is what I have been dealt with and I live with it the best I can. I can not imagine my life without my son. Will he thank me later if he too has this condition, I doubt it. But how I handle the knowledge is going to make a difference in how he handles it. At his age, almost 17, he knows more about this illness then I did at the same age(considering I knew nothing).

If your children end up having this genetic problem they will deal with it just as you now are. By the time they grow up, they might know even more about the disease and ways of handling it. However, how you handle this knowledge while they are growing up, especially if you have them tested and possibly find out about them having it, will make all the difference in how they deal with it.

Now, about your husband, when you get married it is for better or worse. Perhaps this is your worse. He did sign up for this. No marriage is easy even without all the issues you have to overcome. It is his right as their father to know what you two, as parent's, are up against. This is not his right, necessarily, as a husband. This is his right as a father. How he handles it is also going to matter in how your children handle it.

Do what you have to to find out about this genetic abnormality. Knowledge usually makes me feel better, if not more prepared. Do not be afraid to question your doctors or your children's doctors. With my first child and the heart issues, the cardiac doctors were very supportive in checking them out. With the second child, the same doctor, was less supportive. I didn't care, it was a the peace of mind that I needed.

My hope is for the strength I know you'll need. By the way, Congratulations! (it is still a very happy moment)

 

[dharmaBum]

Thanks for the feedback Britt.f7. I think that genetic testing can be still be seen to be in its infancy in terms of who gets tested, what can be done with the information, and how healthcare providers communicate the information. I certainly will think deeply before (if ever in her youth) discussing this condition with our daughter and the child on the way.

In terms of timing, I think this test was not necessary. I didn't screen in for it, and since I'm already pregnant, I'm not in a position to take the preventative action that I might have. .5% of the female population in the US has this "intermediate" level Fragile X carrier status. It means that they are not impacted, but that their children or grandchildren have at least a 50% chance of being born with a variety of degrees of health impacts including mental retardation, autism, limited reproductivity, late-onset tremors, and other symptoms.

I'm sorry to hear about the heart and autonomic nervous system issues. Especially as my mother ages, who also has two congenital heart defects and several other major health disorders, I see that having continual health challenges can be a serious burden.

My typical strategic response is, "OK- we'll do our best with whatever we get!" and a whole lot of pluck, but this is more challenging. I think this is because I still feel alone and unsupported (IRL) as I try to learn about and process this information. My husband knows about the result. I asked him to talk about it with me when he feels he has the time. That hasn't happened yet. The same for my sister. I assume they both may be too busy, could be a bit shocked, or are unconcerned, among other possibilities. I'm trying not to spiral into anxiety and self-shamey stuff.

I really appreciating hearing your voice on this.

 

[dharmaBum]

I got my math backwards above. It is 2% of the female American population who are asymptomatic intermediate "carriers" of Fragile X. I got my numbers back from the nurse and I am at the lowest end of the range, meaning (I think) that the chance of the impact increasing to premutation over one generation is low.

Still in search of genetic counseling.

 

[Britt.f7]

This is difficult. I know when I found out that I might pass down the autonomic nervous system disorder to my children and what to watch for, I had a hard time with it. I still struggle with the idea of taking my son in to get checked out. Most of the research on the type I have is new. I do not know of any doctors who are fluent(for lack of a better word) on my condition that are in pediatrics. My son is reaching the age where he can be seen by my adult doctors. I've been dealing with this for at least 7 years of knowing about it. Do I take him in and get him diagnosed, possibly with this, and how does that effect his life afterwards? He is just starting out on his life. Do I want him burdened with this diagnosis and how will that effect his insurance? The questions never end, even when you think you've found all the answers, more questions pop up.

Maybe your sister and your husband still need to digest the information they have been given.

I'm glad you are searching for genetic counseling. It is good to have someone help you maneuver through this. Have you found any forums or sites that deal with Fragile X?

 

[dharmaBum]

I've definitely learned a lot about Fragile X in the last 48 hours, entirely online- highly credible sites and published papers. I've also had experience working with children diagnosed with Fragile X Syndrome as a special education preschool teacher.

I struggle primarily with the issues that you mentioned about testing and informing the children, and even struggle a bit with whether or not I should tell my adult siblings and my living parent, not knowing how much of a shock or emotional stress it might cause them. It turns out that my test results should have been communicated to me directly by a genetic counselor, and also in writing via mail over a month ago, but there was poor (almost no) communication about the referral and I transferred providers shortly after.

It also turns out that I didn't consent to the test, was never informed about it, and that it isn't part of the standard panel of prenatal tests. It was "bundled" in with a test for Cystic Fibrosis as a generic "genetic panel" by the lab.

 

[Britt.f7]

dharmaBum, I hate surprises. Not asking for a test and getting it anyhow is a bit violating. And to think I panicked about the STD tests they do when you are first pregnant. Like "why are you doing that?" kind of panic.

That decision should have been yours.

I'll be thinking of you as I think about whether to have my son tested or not. Really not easy decisions. Not in the least.

 

[dharmaBum]

Updating:

I sent an explanatory email to all of my potentially impacted living relatives- my four siblings and my mother. My closest in age and relationship sister is a nurse, and I talked with her on the phone at my request. She couldn't understand why I would find the results upsetting but rather found it interesting from a genetics standpoint and was happy to share the information with her two teen daughters. My oldest sister who has two twenty-something sons replied briefly that I shouldn't worry too much and that a 2nd opinion is in order. The rest... tumbleweeds. Complete silence. My brother, who is so fascinated by the genealogy of genetics has said absolutely nothing. And my mother hasn't even offered condolences for the stressful testing experience, which I would expect from any level of empathetic parent. BTW, I see both of them in person twice a week.

Since we weren't looking for this test information in the first place, it is doubtful we will go through the expense and stress of a second opinion during a somewhat challenging pregnancy. We will probably let the children know when they reach child-bearing age that they have the potential to pass on this condition.