Patchygyria

[Karen46]

My nearly 3yr little boy has just been diagnosed with the above brain defect. Has anyone heard of it? We have an appointment with his consultant on Monday. We are totally devastated

@Karen46 💐 I have no personal experience of this condition, but my son does have a neuro condition. Doing a quick online search there is a charity called cerebra that could offer support and advice, also maybe one of the genetics charities.
How much info have you been given? You need to give yourself time to process the diagnosis.
On a more practical note as my son does have a neurological condition, you should be entitled to DLA, carers allowance and possibly an EHC for nursery/ school.
Is there anything else I can do to help?

Thank you so much for your reply. We’ve hardly had any information so far but we have an appointment with his consultant on Monday which she said she would refer him to a genetic specialist and go from there. It is effecting his speech and balance.

After speaking to his consultant I’ll look into the DLA and see what they say and the help with his nursery thank you x

No problems! Take care. 💐

My son has pachygyria, caused by a genetic mutation. Did you get any more information from your consultant appointment?

Hi, not really. He’s got to see a speech therapist and a physiotherapist

@Karen46 How are you doing in yourself? 💐

Confused, stressed, scared. It’s all so new and just don’t know what to expect. Got his DLA forms to fill in

((Hugs)) Give yourself permission to feel like that. It's alot to process. Are your physio and SLT appointments coming up soon?
The DLA form is awful to fill in. Take a look at the Cerebra DLA guide. I find it really helpful. Also filling in a few pages each day, not attempting it all in one go may help.
Any questions just ask away. Plenty of us here who can support you!

He saw his speech therapist today and seeing his physiotherapist next week. Thank you so much