The mixed emotions of an atypical genetics test result

Can you remember what you did on Valentine’s Day? Do you recall what, if anything, you were given? The picture on the card? My memory of the card, celebrations and gifts is sketchy (sorry, Gary, I’m sure they were lovely). It seems like forever ago, doesn’t it? Well Valentine’s Day this year was the day I took Lottie to hospital to have her blood and genetics test done.

16 long weeks have passed since that day. 16 weeks of wondering, worrying, trying not to Google what conditions might cause Global Developmental Delay.

16 weeks of hoping that by mixing our genes, Gary and I hadn’t unknowingly passed on a condition which was causing her struggles.

16 weeks of driving myself a little bit mad.

Two year old girl who's recently had genetics testing in stripy dress and sunhat, holding ball, looking over her shoulder.


So, yesterday when we received a letter from Lottie’s paediatrician explaining all of the bloods and genetics test results were in the ‘normal range’, you can imagine the relief I experienced. Huge, wonderful and liberating relief. So enormous in fact that I was a little tearful (not at all unusual for me to be fair).

Her microarray CGH did not detect any clinically significant copy number changes. I had to google that last part if I’m honest. Apparently it’s a test which looks at thousands of sections of DNA to identify any deletions or copies.

A weight had been lifted. A positive result at last and some much needed good news.


I know rationally that Lottie is unlikely to ever be developmentally the same as her peers. We were told that if children do catch up, they tend to do so before they are two. There is a slim chance, but it’s probably pretty unlikely.

Yet something somewhere in my head was saying that if genetic problems had been largely ruled out, perhaps she was just a slow starter. Maybe she would start to hit her milestones and in years to come we’d wonder what we’d ever worried about.

It’s human nature to always retain a bit of hope, isn’t it? It can help us through the worrying times.


But then came the good old mum guilt. If the genetics test results weren’t showing a condition causing Lottie’s delays, was it something I did wrong? Did that glass of prosecco at Christmas while I was pregnant affect her? Did I eat something wrong without realising? Was I too stressed and tired out at work to give her what she needed in the womb? I could go on, but you get the idea.

The feeling of guilt as a mum is ever present. But I’ve really felt that ramp up since we had Lottie’s Global Developmental Delay diagnosis. I feel guilty that she will struggle, not me. I feel guilt that perhaps I did something wrong as a mum to contribute to her delay. Again, the list goes on.


And there’s my old friend, worry. Again, it’s what parents do about their children, but I’ve felt a whole new wave of worrying recently.

What if we don’t ever find the cause? Will we be able to help her in the way she needs? Will we be able to offer the right support? A big worry for me is that we are doing our absolute best by Lottie to give her the chance to meet her full potential. I really feel I need to know exactly what’s going on so that I can become an expert in that particular condition and be the best carer, mum, supporter, that I can possibly be. And if we never know what’s causing the delay, how can I possibly do that?


But after all that, my overriding emotion is still relief. That’s the feeling I keep coming back to. And it feels bloody wonderful.

We’ve crossed off all of the initial possible conditions from the first paediatrician appointment now. Her hearing is fine, they don’t think she has epilepsy, her bloods and genetics test results are in the normal range. How lucky we are that thus far, we’re not faced with a scary condition that so many others have to deal with. How lucky  we are that so far she is showing up healthy and still rudely happy.





  1. June 9, 2018 / 8:42 am

    Oh that is such brilliant news!!! I’m so so pleased. If there is no reason, and the fact that you’ve had the gdd diagnosis early, surely it means there’s a chance she could catch up. I’ll keep everything crossed xxxx

    • heelsandhooves
      June 10, 2018 / 4:08 pm

      Thank you so much lovely. That’s what I’m thinking, but the paediatrician did say that if children do catch up, 99 per cent of them do it be the time they reach two. So I’m trying not to get my hopes up, but we’ll keep on with all the help and support and cross our fingers xxxx

  2. Our son is autistic and has developmental delays. In my experience (from our own journey and from what I’ve gained from others), worrying about WHY is usually something which parents do mostly at the beginning, when the diagnosis is new. The longer time goes on, the focus shifts to be more on HOW to best support your child, based on their individual needs, talents, differences etc., regardless of whatever the underlying cause(s) may be.
    Of course, helping and supporting your child is already what your prime objective is, but I’m sure you’ll find that there are many ways of doing this which you don’t need to know anything about the cause for.
    Your daughter obviously has a very caring and loving mum who’s doing the best she can. That’s an excellent start for her, and in most ways much more important than any test results x

    • heelsandhooves
      June 10, 2018 / 4:17 pm

      Thank you Malin, that’s good to know. Perhaps it’s once the diagnosis settles in a bit that you realise the cause isn’t so important then? We are doing all we can to support her at the moment, but it’s definitely a learning curve. Thank you so much for your comment and I hope your son is also happy and getting on well xx

  3. June 11, 2018 / 1:36 pm

    That’s such good news. I know it sounds a little cliched, but the fact your daughter is so happy and has a loving, supportive family around her makes her a lucky little girl, whatever other struggles she might face. Keep hold of the thought that children aren’t statistics and you are very early on in her diagnosis. And keep hold of the happy!

  4. June 11, 2018 / 9:28 pm

    My son has a diagnosis of Gdd along with many others which do make up that dreaded genetic condition – take it from a mother who gave her son unknowingly a terminal genetic condition that you have nothing to feel guilty about .
    GDD is just a label. Let your daughter set the pace and you’ll learn to follow xxx

    • heelsandhooves
      June 12, 2018 / 11:34 pm

      Thank you so much for your comment. You neither have anything to feel guilty about – as you said, it was unknowingly passed on. That’s great advice, thank you so much. Heading over to your blog now xxx

  5. June 12, 2018 / 10:07 am

    Such great news. Sounds like you are going threw the mill. Keep positive and strong x

    • heelsandhooves
      June 12, 2018 / 11:33 pm

      Thank you so much x

  6. June 12, 2018 / 10:59 am

    I can understand your mixed feelings, but what a relief it must be for you that overall it’s good news. I hope your little one continues to thrive.

    • heelsandhooves
      June 12, 2018 / 11:32 pm

      Yes it’s a huge relief. Thank you so much x

  7. June 12, 2018 / 11:08 am

    Great news! It’s good to hear that you are getting the support that you need. I think far too much pressure can be put on us as parents and our little ones when it comes to milestones and ‘what is typical of a certain age’. Every child is different. Wishing you all the best x

    • heelsandhooves
      June 12, 2018 / 11:31 pm

      This is so true! Thank you so much x

  8. June 12, 2018 / 11:50 am

    That’s great news! I’m glad something good came out of this for you. I went through the same thing when my oldest was diagnosed with Autism at age 4. I really beat myself up over it because I was struggling with a mental illness at the time and I was very depressed during my last trimester of my pregnancy (that’s when the PTSD kicked in). We don’t know why he has it but Malin is right that you do begin to shift from the guilt to just being all about helping your child. My son is 16 now and is an honors student in high school. He still has his struggles that are mostly social but He’s doing great. I don’t know much about your daughter’s diagnosis but I do hope for the best and I like to believe that with a lot of hard work on your part and on the part of schools that she will attend (I definitely credit my son’s IEP team for being so on top of everything) she will improve and one day she will be amazing! I wish you all the best!

    • heelsandhooves
      June 12, 2018 / 11:30 pm

      Aaw what a lovely story – I’m so glad your son is doing well. And I think you’re right – we need to focus on helping her as best we can, rather than anything else xx

  9. June 12, 2018 / 5:04 pm

    Oh. what a relief for you – such a long time to have to wait, I can see how you were out of your mind with worry. My eldest son has Asperger’s and I often worry if it was something I did – I had hyperemesis gravidarum when pregnant and worry that a nutritional deficit may have caused it. It’s what we do as mums but you have no reason to feel guilty x

    • heelsandhooves
      June 12, 2018 / 11:29 pm

      Thank you lovely. Sorry to hear you’ve felt the same guilt. Mum guilt sucks! xx

  10. June 12, 2018 / 10:24 pm

    What a huge relief this is. My brother and his wife went through something similar. There is hard genetic disease which runs in his wife’s family. Luckily the tests came back clear. From that, they have gone one to have 3 great kids. It must have been so hard for them that I cannot begin to fathom how hard it was for my brother and sister -in-law.

    John M

    • heelsandhooves
      June 12, 2018 / 11:28 pm

      So sorry to hear your brother went through a similar thing – such a worrying time. But I’m glad all ended well for them x

    • heelsandhooves
      June 16, 2018 / 3:20 pm

      Thank you lovely xx

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