8 tips for coming to terms with "bad" genetic testing results

March 5 2012 | Guest post by Erin
Photo by Leontine Wallace Photography.
Photo by Leontine Wallace Photography.

Everyone has expectations about their pregnancy, their birth, and their child rearing experience. It's probably a safe bet that it's a rare moment when things go as completely as planned.

For me, none of it did. At 16 weeks pregnant, I had a (fairly) routine blood test done. Two days later, my midwife called and said that based on the results, the baby I was carrying had an elevated risk of having Down's syndrome. We scheduled a sonogram with fetal and maternal health specialists and a genetic counselor for two days later. Nothing was found, but they asked us to come back a month later because they were having difficulty getting good images of the baby's heart. We leave happy that our risk has been downgraded, and come back a month later.

At this appointment, they found a "marker" for a chromosomal abnormality, a calcium deposit in the heart known as an echogenic focus. Our risk calculation shot way up, but I declined the amnio. Three days later, after many tears and worries, I changed my mind, and went ahead with the amnio. For me, knowing and dealing with the repercussions of the information, whatever it was, seemed important to do before our child was born. Four days later, we had preliminary results, and our daughter was diagnosed with chromosomal abnormality, Trisomy X, which means she has an extra sex chromosome.

In the time surrounding that diagnosis, I waded through quite a few emotions, and wished I had something, anything to guide my reactions and next steps. Here's what I wish someone had been there to tell me:

Be sad

It is okay to be upset about the "loss" of your perfect child. But here's what no one told me: that baby in there? Still your perfect child. My daughter brings me joy that I never thought possible. In the weeks following our diagnosis, there was a mess of confusion with doctor's appointments, screenings, and no one thought to tell me that it was okay to be sad. But it is. Your whole future just changed. You've gone from "perfect baby" to automatic "special needs" baby. Be angry, be upset, and embrace your emotional response.

Get informed

Our genetic counselor didn't have a lot of information for us at first, but worked very hard to make sure that we had some within a few days of getting our results. The internet is also a great (but sometimes) scary place where everything you want to know about anything is available. Medical journals can have difficult language to wade through, but be patient with yourself. You're about to be an expert.

…but know when to step back

Too much information can be overwhelming, especially when a lot of it is negative information.. After three days of reading numerous websites that featured worst case scenarios, I was convinced my daughter wouldn't breathe, wouldn't be able to eat, would never talk or read, and would never smile. I dismissed the parts that said anything good, and focused on the bad. Thankfully, right now she's just like every other baby.

Be selective about who you tell

I blabbed to too many people that we were going in for an amnio, and then I felt obligated to tell them the results. Sometimes I lied about them, and that was okay for me, too. Make sure that the people you do tell will support you, even if that just means being a regular friend, without the weird "oh you have a baby that's not like every other baby" vibe.

Find support

Facebook groups, message boards, forums, anything. Find other parents who deal with the same issues. And visit those sites as often as you need to. For me, it is not every day. I get overwhelmed with information about what might happen, but I love knowing that the support from people who fully understand will be available when I need it.

Investigate local resources

Early intervention programs, pre-K, therapists, conferences, local support groups, etc. Find out referral processes for government run programs. Find a pediatrician that has experience with children who share your child's condition.

Have a response ready

"Oh, is she crawling yet?" "No, not yet!" [big grin] "Nope, but she has figured out how to suck on her toes!" [big grin] People are naturally curious. They want to give you the opportunity to gush about your child, so do it, on the terms that do celebrate your child's achievements.

Enjoy your baby

I didn't do enough of this at first, and I think that's natural too. Along with the normal terror of expecting a new child in the house, you now have a kid that's a total wildcard when it comes to things like being able to eat properly, meeting physical development milestones, potential seizures, reading, speaking, social anxiety… the list of things I worry about for my daughter goes on and on. I wish sometimes that I could "unknow" what's different about her and just exist with her. And then, she smiles, and laughs, and melts my heart like she's done every day I've known her.

      • Oh, always feel like an inspiration. Even on days when you don't think you have done anything to inspire anyone else, there is a beautiful little girl who thinks everything you do is inspiring and wonderful.
        And she should- you brought her here, you love her, you keep her happy and safe. What is not inspiring about that?

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  1. Thanks for sharing this. I teach special needs preschoolers, and I'm often curious about the parents' perspective. And this is right on:
    "They want to give you the opportunity to gush about your child, so do it, on the terms that do celebrate your child's achievements."

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  2. Check out a book called Expecting Adam. It is a memoir by the Yale educated mother of a down syndrome baby. I'm not a momma but this book is both heartwarming and enlightening.

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  3. While I'm not downplaying your story or reactions (and yes, as a fellow special needs mom they are all very true!), I'm curious because in my sex ed / genetics classes, we studied XXX and I hadn't heard there was any developmental risk involved with it. (There's a higher risk of infertility and menstral issues.) It's fairly common, if I recall correctly.

    I hope your daughter continues to thrive!

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    • I first heard of this in a biology class and delved into it. There are quite a few other differences in individuals with Trisomy X that can occur; it varies by individual as with most things but it is not as simple nor common as you indicate.

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  4. Thank you for sharing this. My son is also special needs and we're continually dealing with his differences in just about every arena. I wish you and your family the best of luck!

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  5. I agree with so much of what you have said. I suppose my son is the "other side of the coin". At 19 weeks we had our routine ultrasound and then were brought in to discuss the results. They had discovered our son had a two vessel umbilical cord/single umbilical artery. When 2VC/SUA is found on an ultrasound additional ultrasounds for abnormalities of the heart, gastrointestinal tract, brain, urinary tract, and bones will usually be performed to evaluate the baby for other possible abnormalities. If additional abnormalities are found there may be as high as a 50% chance that the baby has a chromosomal abnormality including trisomy 13 or trisomy 18. Another condition that has been associated frequently with SUA is VATER association (vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, and radial dysplasia). Down syndrome has not commonly been associated with SUA.

    If SUA is the only finding and there are no other findings on ultrasound examination the risk of a chromosomal abnormality appears to be very low. Nonetheless an amniocentesis may sometimes be offered for further evaluation, since additional findings in some syndromes may go undetected until after delivery.

    In my case, right at 19 weeks we were given the option to abort. We declined, instead choosing to be monitored via the high risk clinic. This means in total I had something like 25-28 ultrasounds of my son. We also declined the amniocentesis as we determined the risks outweighed the positive.

    I was induced early (34 weeks, 5 days)due to pre-eclampsia and my son was born at 4 lbs 12 oz. And, despite all the odds he was born fairly healthy (he was premature, and jaundice). He also had some sensory issues that he seems to be outgrowing, and wears glasses but is otherwise a happy healthy 6 year old boy.

    I'm sharing this, because not all "bad" news ends up being "bad" news in the end.

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    • We were told at our 12 week scan that they could only find one artery. Essentially at that stage we were told that it would mean extra tests and monitoring later in pregnancy, but at this stage nothing much could be done. We had already made it abundantly clear that we would not be terminating, regardless of what may or may not have been found. Fast forward 9 weeks and and our 20 week scan showed 2 perfectly healthy arteries!

      It scares me to think of the number of potentially healthy pregnancies (and therefore children!) that are placed in the 'recommend to abort' basket simply due to "bad" genetic testing results. It saddens me to think of babies terminated due to issues such as cystic fibrosis. I have a friend who suffers with this condition, his parents chose not to terminate but gave him up for adoption instead. We have no idea what their reasons were for this. His currently life expectancy is into his 40s, though this is every growing, and at the age of 10 he saved his adoptive father's life after they were involved in a car accident. Unfortunately his father suffered irreparable brain damage, and now he assists his (adoptive) mother in caring for him. When his parents adopted him initially, he was not expected to have lived as long as he has, and the expected to be caring for him his whole (short) life.

      Those "bad" results – try to see them as "different". "Normal" is not "perfect" or "necessary". We are all different, we are all flawed, we all have our issues. You're child will be your special version of perfection.

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  6. Thanks for sharing! so many of us go through situations that for some reason we think we're alone, and that makes it scary. Doctors don't help either sometimes, just trust your gut mama and love your kid! you're off to a great start.

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  7. Thank you for sharing your story. I was intrigued many years ago with Trisomy X and have since written two research papers and have heard wonderful, positive stories of girls with this anomaly. They even hold conventions for girls to meet others with it as well. Best of luck to all of you, always!

    • I'd love to read your research papers, if you'd be willing to share them. I'm attending the Focus Foundation conference in Annapolis in April.

  8. we saw an echogenic focus as well but we did not opt to do any further testing. as far as we can tell, our boy is "normal". thanks for sharing your story, those little smiles can really melt the heart!

    • It's true – many children have them in utero and "grow out" of them. Our daughter even did – it hasn't been visible on any sonogram since the one that spotted it in the first place

  9. Thank you for writing this! I was diagnosed as a carrier for the premutation of fragile X (a completely different condition), and we opted not to do amnio but struggled with a lot of these same decisions. I can relate to so much of this article. Actually, one reason I opted not to do the amnio was that I wanted to get to know my daughter before I got to know her status(if any)… it's impossible to "un-know" something and I didn't want to judge every one of her behaviors through the lens of a diagnosis. Of course, her chance of having the full condition is only something like 1/33, so it's a different situation. The more I get to know her as a person, though, the less it matters… she's a curious, active, friendly, smart little girl and if she WOULD turn out to have fragile X (which can involve mental retardation and autism-like symptoms), I can already tell that she will deal with it beautifully and be the best HER she can be anyway, if that makes any sense.

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  10. Thank you so much for writing this, there are so many people out there with children affected by chromosomal abnormalities and literature is more often scary and medical. Rarely is there a story from the point of view of the parent talking about both the trials and tribulations.

    I really think we need more stories like this out there, and I am so thankful to you for sharing your story and your suggestions 🙂

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  11. This is a wonderful perspective, and I am glad we heard it. I do think it also needs to be said that it is alright to choose to terminate the pregnancy, too. This is all great advice for women who choose not to terminate, but those who do should not feel shamed (in general – not insinuating this post would make them feel so).

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    • When I had to have an amnio after getting potentially bad news during my 20 week anatomy scan, the high-risk obstetrician said to me "Whatever you want to do with these results is okay. All your options are open to you, let's just cross that bridge if we need to cross it." I was so, so grateful to have had a woman there who supported my right to do whatever was right for my family with the information I was about to receive, with no judgements either way. To be supported like that is so very important at such a horrendous and emotional time.

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    • Thanks for this comment. I loved the article, but think I'd have liked a brief mention that the advice is for those who choose to parent. For some people, coming to terms with 'bad' gentic testing results means adoption or abortion.

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      • I think the article as written, is more the author sharing her personal experience. So saying something like that maybe doesn't fit with her story.

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    • Absolutely! For us, it was not even legally an option by the time I had testing done. My testing was done for informational purposes only, even though there was the risk of miscarriage/early delivery with our testing.
      I did not mean to gloss over that point or make it seem like it isn't a valid option.

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    • This is a somewhat sticky topic. While I am pro choice, abortion for disability seems very similar to abortion for gender.

      As a disabled woman, and active part of the disability community, I often come across people suggesting that we should not exist- either that we should be aborted, or sterilised. Disability is not bad, it is another natural state. I suppose I just cannot understand aborting a wanted baby because it's different than what you imagined.

      Any one of us can be disabled tomorrow. If someone cannot handle a disabled child, then perhaps they shouldn't have kids. I don't mean that in a cruel way, but parenting in general is hard. What would they do if something happened to their child later?

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  12. My partner and I passed on a recessive genetic condition to our son, and it can be diffucult to explain why, even though he will develop normally, he does have some special considerations.

    My husband doesn't want to be involved in any local support groups because he doesn't think that we really have a need. But… I have recently realized I have a need. We ignored all the invitations from support groups, and now I kind of wish I hadn't. I'm sure I can find them again throught the doctor or state, but I probably could have benefited from some support over the last year! So consider seeing out families who have a similar diagnosis. Maybe they have some great insight!

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    • I second this. My daughter was born was hydronephrosis (an enlargement of the kidneys) and though her condition has gotten better as she's gotten older, having a support group (which for me was just online, but was still a great source of support) was important. Even if you don't get information from them that you couldn't have gotten from a doctor, there's something irreplaceable about just knowing that there is someone out there who knows what it feels like to be in your shoes.

      • Thanks! I think you are right. Sometimes I get sort of stuck metally and emotionally, and I just want to ask someone. "Hey, so what did you do for ___?"

  13. Just wanted to mention something I thought was important that you didn't mention. My OWN sister just acted as though she was surprised I didn't know that my niece was in the clear of a genetic disease she was diagnosed with in the womb! I guess she told so many people the bad news, she didn't think of giving them updates, or forgot who she told. My niece will be 10 this year and the diease shows itself at puberty. I thought we were all waiting 'silently'. Not cool. (but thrilled she is fine!)

  14. This advice is also helpful to adoptive/foster parents who find out bad news about their children. My friend has a baby who was shaken by a birthparent. She may be fine in the future and she has come along way since the incident but she is not perfect.

    I know so many people who after adopting or having a child in their home for a long time have gotten bad news about their child. Thanks for the advice.

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  15. Your daughter is adorable!! She's exactly 2 mos younger than mine, and rocking some of the outfits she's got (oh Carter's). Love the hair.

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  16. this is some awesome advice!
    My two 1/2 yr old was born without us knowing of his rare syndrome (shprintzen goldberg syndrome), its a hard greiving process but, I love hearing someone say its ok to be sad!

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  17. I just wanted to add my thanks into the mix… As a not pregnant yet, but knows she wants to be a mom in the somewhat near future kind of lady, this is something I've thought and worried about… probably more than I should… So it's good to hear a positive perspective on having a special needs child. And really just the idea that no matter what, our babies are going to be perfect because they're ours is pretty awesome!! 🙂

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