Glut 1 Deficiency Syndrome?

[baseW]

Hello,
after years of questioning, tears and mis diagnosis my ds1 has been "fairly certainly" diagnosed with GLUT1 deficiency syndrome. His Lumbar puncture results support this diagnosis and the consultant is waiting on genetic confirmation from samples that have had to be sent abroad for testing.
Its a type of epileptic disorder - very rare, aprox 100 people diagnosed world wide.
Ketogenic diet seems to be the only treatment. Any damage done cannot be reversed but hopefully this diet will prevent anymore......
Are there any mums out there that have any experience of this syndrome, any experiences that they would like to share?
Anyone got any experience of the Ketogenic diet that they would like to share?

PS - oops

forgot to say thank you and please get in touch!!

Stefanie

Stefanie - no expereince but you'll find support here, I've seen posts on Ketogenic lots so hang on in there, the lovely ladies on MN will get to you.

hi, check our Riven's posts, also a charity called Matthew's Friends. We were in a similar situation re: "irreversible" neuro damage, but thankfully my ds stabilised and reversed some of the damage and improved too (on gluten-free diet), so don't give up easily.

Hi,
have joined two groups Ketogenic group and Keto kids just waiting on approval!!
Thank you - would never have know that these groups even existed!!
Thank you
Stefanie

Hi baseW. DS is meeting dietician on Friday about starting the ketogenic diet in May( we have managed to get bumped up the list which had a year long waiting list) He has tried umpteen anti epilepsy drugs which either don't work,or work to some extent but make him spaced out or violent

Matthews Friends seems a great site - will have a look at the others you mention and probably bump into you on there

Hi,
Yes it is the yahho group, but still waiting on approval so have not managed to have a look yet!

Gee i did not realise that the waiting list could be so long. Consultant kind of gave the impression that it would be pretty quick but will definately check on that at next appointment.

Thanks Riven, Mathews Friend and American sight are great. Mathew's Frirnds even refers to an up coming conference in October with an attending Glut1 specialist!!

Thanks again

Stefanie