Genetics Testing-How long do you chase a diagnosis?

[Redstar2015]

I have posted before about my ds and desperately looking for some support and advice. At birth he had suspected Down’s syndrome, suspected heart problem, and suspected issue with his intestines. He had genetics testing, including a microarray test. Everything came back as normal (including heart and intestines all normal).

At this point geneticist paused testing as she couldn’t determine anything specific to merit further testing. Fast forward five months later and at a follow up exam she said she wants to retest for downs to be sure there was no mix up on the blood sample (we had a fresh blood test done). This includes doing the microarray test. In addition she wants to pursue whole genome sequencing.

The thing is that developmentally he’s right on track and no worries. All the testing is linked to some subtle differences in his facial features (eg folded earlobes, flatter and broader nasal bridge) and the fact he has a single palmar crease on both hands. To look at him now I don’t think people would notice these things except the ears which are much improved after doing ear splints. I have also noticed his nasal bridge increasing in height as he ages so it’s much less flat and looking more like a cute button nose.

I guess I’m wondering if it’s normal to push down the genetics route and if there’s an end in sight? I want what’s best for my child but it’s very emotionally difficult for our family going through this again and we were just healing from all the trauma from around his birth. We are getting the initial tests redone but I genuinely don’t know if whole genome sequencing is a rabbit hole that without anything more specific to pursue is worth going down. I had really wanted closure one way or another but feeling no matter what this will never happen.

what have others done in this situation? I think them looping back to Down’s syndrome is especially confusing as that test is definitive I thought unless there was a lab mix up, which I know could happen but suspect isn’t highly likely.

I’d appreciate any support.

We decided to pursue further genetic testing for DS1. It hasn’t yet given us any further information other than what we already knew about (DSs have a diagnosis of a genetic condition but that condition doesn’t explain all DS1’s difficulties.) but work continues and some receive further information many, many years later.

@BlueBrick , Thank you for sharing your experience. The waiting is horrible, isn’t it? I hope you and your family get some answers in the future.

I think in our situation it’s hard to know what to do because ds doesn’t have any difficulties at present and appears to be developing well. Other than some subtle facial features he seems to be doing well—and this is what makes it harder as we don’t know if going through the genetic testing again is worth the emotional toll if he’s well in himself, especially as that may not provide answers either and just prolong that state of worry and doubt. I honestly thought the geneticist would discharge us at our follow up appointment and am still in shock that we’re retesting for Down’s syndrome and also that she seemed convinced that whole genome sequencing should be pursued because of his facial features.

Can you talk you feeling through with the genetics service?

The wait is hard, but I try not to focus on hoping for answers from genetics and think of it as if we learn more it will be a bonus.

@BlueBrick , I did explain this to them despite my shock. When we received all normal results when he was a newborn the final discussion was that they wouldn’t pursue further testing as nothing sprung to mind and all features were then believed to be a “variant of normal.” This was following a discussion with a team of geneticists so senior consultants would have reviewed his case.

The 180 where they want to a) retest for downs and b) pursue whole genome sequencing has me utterly confused about what is best for ds. He’s growing and developing well. We’d finally got over the emotional trauma associated with his birth and love him to bits. What do we really gain from opening that wound if there are no developmental concerns?

Maybe others can weigh in but I’m struggling to see why they are chasing this so hard. They’ve mentioned the exact same things as before and just said they now really believe he’s got some kind of genetic condition. I don’t know how others make the call to press on or just say enough is enough.

Anyone?

Speak to the genetics service again. If there is a diagnosis, it may be that certain health checks/reviews are recommended.

@BlueBrick , I will. We get the first test results this week and I’m so worried I literally feel sick and/or am crying my eyes out. But when I’m feeling okay I have managed to write my questions all down. I know if he starts to have developmental delays or other obvious health needs then of course continuing to pursue a diagnosis makes sense, but they keep saying they’ve no clue what he could have but feel there are too many dysmorphic features to ignore so want to do further testing. It’s really, really hard emotionally.

Just wanted to offer you a virtual handhold @Redstar2015. You've mentioned trauma a couple of times. Was this trauma from the birth or from the testing? Have you had any counselling for your trauma?

@SiouxsieSiouxStiletto , Yes, I have thought about accessing support for myself. I reached out to one charity for phone support but think I need something different as ds has no diagnosis. They confirmed his blood sample from previous tests so thankfully those remain valid, but are doing a kayotype test to be sure he doesn’t have mosaic Down syndrome.

The trauma is a bit of a mix of the anxiety from testing but also two difficult postnatal periods. My older child was in SCUBU for weeks after needing major surgery—a shock as nothing showed in scans during the pregnancy. We thought she was going to die before they figured out what was wrong and at the time I swore I’d never have another child because it was so painful going through that. And similarly with ds we thought all was well until he was born and the doctor came in and said they thought he had multiple problems, two of which would’ve required surgery if they’d been right. So going through testing I get flashbacks of those bad moments and very vivid nightmares. It’s a big reason why I’m on the fence on whole genome sequencing since they haven’t a clue what he might have if Down syndrome continues to be ruled out with this new test. I was in a good place before this last genetics appointment and it’s just got me back to being an anxious mess.

We are being referred to a community paediatrician which I agreed on, but now I’m thinking that may make me worry more as I’ll feel like I’ll have to keep careful notes on his development which just feeds the anxiety.