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Smack around the head and a hand hold please

12 replies

Overtiredbackagain · 06/12/2016 13:14

Darling DD, who is 17 months, has a genetic abnormality which has caused a physical development delay, she is probably at the stage of approximately 9-10 months. We are waiting to see the clinical genetics team, we had an appointment for next week, but we postponed it to January because we were told that the copy dormant variant gene she has wasn't the cause of her delay - three months later they have changed their mind Confused

Coupled with that she was also diagnosed with scoliosis at the 20 week scan, due to a vertebrae in her lumbar not forming properly. We were then told three months ago that we needed to have kidney ultra sound and heart echo, to rule out any problem, since these issues can be associated. I though these would be routine, so we had the kidney scan, to find out one kidney is working harder than the other, so we now await an appointment for the kidney specialist.

So - tomorrow is her heart echo and I a just terrified of what they are going to say. This appointment has been arranged for a month, and I feel more and more stressed as time goes on. I expected the kidney results to be clear, so now I'm terrified what they will say about her heart. Please someone smack me, tell me to get off Dr Google and tell me she'll be ok Sad

OP posts:
Overtiredbackagain · 06/12/2016 14:00

Bumping .... anyone? Sad

OP posts:
puglife1 · 06/12/2016 14:24

Hand hold here for you. I'm sure everything will be just fine. Stop worrying and go and give that darling cherub a massive snuggle. Stay strong Flowers

youlemming · 06/12/2016 21:48

No experience here but just wanted to say keep strong, you are doing the best for your little girl and getting everything checked out is the right thing to do.
I can't imagine how tough it is so keeping my fingers crossed for some positive news.

SpeckledyBanana · 06/12/2016 21:50

BrewCake

Step away from Dr Google.

Mouthofmisery · 06/12/2016 21:59

Get off google!! My dd was born with a genetic syndrome, developmental delay etc. One of her kidneys functions at 30% the other is 70%. We have had nuclear kidney scans and renal flow scans etc. All it's shown is that she has scarring. It's manageable and only needs to be thought about if undergoing anaesthetic. She has other issues too. Lots of consultants. However she has developed and has her own strengths and weaknesses and personality traits. And as the shock wears off all the medical side our little girl just gets on with it and doesn't worry. I spent so long fretting about all that. I wish I hadn't. There's nothing I could have done to change outcomes. Your situation will normalise unfortunately. You're only fearing the unknown which is normal. X

HalfStar · 07/12/2016 11:56

Good luck for the appointment today OP. x

Overtiredbackagain · 08/12/2016 08:11

To those who replied, thank you so much. After a tense day, her heart is perfect. The relief is immense and I feel we can tackle anything now, she has a long way to go and the older she gets, her problems are becoming more obvious, but she's our happy cheeky beautiful girl and I wouldn't change her for the world xx

OP posts:
youlemming · 08/12/2016 17:11

Great to hear, must be a huge relief.
All the best going forward x

HalfStar · 09/12/2016 12:18

Great!

EmeliaHerveyHenryFitzroy · 09/12/2016 12:19

So wonderful to hear. Always so stressful to have those things hanging over your head. Best wishes to your little girl for good health. Flowers

JassyRadlett · 09/12/2016 12:23

I've only just read your thread, but I'm so pleased for you that her heart is great. It must be such a relief.

Munstermonchgirl · 11/12/2016 09:29

Only just seen this but so happy for you that the results are good.
Just wanted to add that having had one child who had complex health issues, the very fact that they are being monitored closely will inevitably throw up things which can often turn out to be fine. My dd was being monitored before birth and at one point the docs found something which appeared wrong with a kidney (in addition to other problems) but actually this corrected itself by the time she was born. If she hadn't been so closely scanned and monitored I would never have known about it. It's very difficult because it all adds to the worry but of course from a medical point of view you want to know everything is being closely looked at.
Hopefully now you can breathe a sigh of relief and enjoy your lovely little girl

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