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SN undiagnosed genetic conditions

This forum is for Mumsnetters to discuss undiagnosed illness.

Leukodystrophy/Epilepsy/Developmental Delay/Genetic

3 replies

themumfeels · 02/08/2017 16:08

My son was born in June 2016 and to say we've had a stressful year would be an understatement. He's admitted to hospital at least monthly and has various medical problems.

Most recently (and mainly) he has been diagnosed with a Leukodystrophy. Tests are ongoing to confirm what type and the 100,000 genome project has also been discussed.

I have found various sites with information about this and have recently joined a fb group to try and identify with other families going through a similar ordeal.

The thing I am most stumped on is the prognosis - when we were meeting with his neurologist she explained various different scenarios and that it could be life limiting. I think we were probably in shock and slightly ignorant to the severity of the current diagnosis. We are meeting with his usual consultant on Friday so I have a lot of questions to ask.

Mainly I was just wondering if there are any families who have gone through anything similar or knew anything more about the condition ?

I have recently started a blog aiming to discuss the difficulty of parenting when things aren't necessarily as you think they will be after you have a baby. Mainly the struggles of having a poorly baby and coping mechanisms. It's www.themumfeels.com if you fancy giving it a read - it's all very new but I feel it's an outlet that I've possibly needed for quite some time.

xx

OP posts:
misdee · 25/08/2017 09:59

Hi

My daughter has a diagnosis of mlc1 based in clinical appearance. We are waiting for genetics to confirm but 20% of cases don't have HEPACAM or the other mutation so it could be inconclusive.

ShowerGel9 · 21/09/2018 09:34

I'm interested. Thank you

ShowerGel9 · 21/09/2018 09:38

Your blog is amazing but I'm finding it hard to read as I am in a bad place atm. I have a son with undiagnosed neurological problems. Aged 3. I don't know anybody else out there going through what he are going through.

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