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SN undiagnosed genetic conditions

This forum is for Mumsnetters to discuss undiagnosed illness.

Geneticists Have Found A Trisomy in 12yr Old

5 replies

ExtraChromosome · 18/07/2019 02:21

Please can someone help me.

Does anyone know more about trisomy in chromosomes than I can google?

My DD is about to turn 12. She has had learning difficulties and development delays her whole life, but she's functioning now. Compared to many of the kids I've read about who have extra chromosomes.

She has been waiting for diagnostic testing for adhd and asd, another year to go on the waiting list. She also has sensory issues which include audio processing issues. She's short but her dad and I are both 5'3" so we always expected that. She's very odd, very unique, but I like that she isn't like most people because neither her father or myself are. Quirky and eccentric describes us.

She had a blood test the other month, because her secondary school wondered if she has Prader-wili Syndrome. The geneticists rang me today and said she needs to come and repeat the blood test because they've found an extra chromosome.

However, whilst they didn't say much, they did say they've not seen this before. They said her father and I will probably be asked to.come in and be tested as well (which makes sense now that I've spent 12 hours researching this sort of thing).

I think whatever this is could explain why I miscarried her sibling. Again, according to my research.

So many of the trisomy syndromes have low life expectancy. This has freaked me out.

I guess what I'm asking is, has anyone reading this been through this? It's obvious she isn't Downs Syndrome, Edwards, Kleinfelters. And Turners means being very tall, which she is not. They said they've not see this before.

What's going on. And is there anyone I can talk to? When they rang, I had been napping and was disorientated. I have so many questions now.

OP posts:
ExtraChromosome · 18/07/2019 02:21

She has an EHCP also.

OP posts:
MadamePompadour · 18/07/2019 02:27

I don't know but could you see your GP tomorrow to ask some general stuff? Hopefully get some reassurance?

Broken11Girl · 18/07/2019 02:32

No, women with Turners syndrome are short. Turners is also not a trisomy, it's a missing chromosome. The geneticists would also have seen it before, many times.
You will just have to be patient.

ExtraChromosome · 18/07/2019 02:50

I'm the kind of person who has to look the word 'patience' up in the dictionary. But you're right.

I wouldn't be able to get a doctors appointment for tomorrow eve if I walked in with my head dangling off, but I could ring and explain and ask if someone had time to ring me back for me to ask some questions. But I'm guessing the doctor won't know more than I do, because they're not a specialist. It'll be the genetics department I'd need but I don't have the number for there. I should have asked for one.

Thanks for replying, both of you, I guess I should try sleep soon but it's hard to shut off.

OP posts:
Claracracker · 04/08/2019 19:19

HI how are you? Hope things are going ok. Do you have more information yet? Unique may be able to help you. And Swan (for syndromes without a name) are another organisation you could contact. Best wishes to you all. X

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