- Langan

[Guest guest]

Hi - jumping in here, there are a couple of parents with kiddies

with a glucose transporter disorder on this list, but not sure if they are

reading or active here at the mo. One is another parent from down here in

NZ, and her son has done brilliantly since he was diagnosed (thru a spinal

tap - glut-1 deficiency) and put on keto. He has gradually been weaned down

ratio-wise to more of an Atkins style diet and is still producing good

ketones - meaning he still has enough " fuel " for his needs (as his glucose

was obviously not adequate - hence the seizures and a few other symptoms he

was previously experiencing) on a less restrictive diet. The ketones simply

'replaced' the glucose for him, meaning yes, at this point he may have to be

on a form of the diet for life - but such a small price to pay for them - to

have a correct diagnosis and an effective treatment is obviously what we all

strive for.

A spinal tap is a must-have in the diagnosis from what I understand - I

think it has to be compared with a blood draw at the same time as the spinal

tap, ie - if a glucose transporter problem, it can be showing as a certain

'normal' level in the blood, but not at the same level in the spinal fluid,

usually v low - meaning the presumption is that it is not being transported

to the brain from the blood in adequate amounts).

And yes, this is why spinal taps are so important when seizures are

intractable to meds develop with no apparent reason. Glut-1 (although v

rare) is just one of the transporter/metabolic disorders that needs ruling

out, cos with problems like that, AEDs are not gonna be the answer, the

'cause' needs identifying and rectifying wherever possible.

has had 3 spinal taps over the past 3 and half yrs, all of his have

been done under sedation too - I have had epidurals with 2 of my kiddies

births, and no way could I stomach the thought of going thru that -

but I am a complete needle wuss at the best of times

Re the aspect of how to test when she is in ketosis, I imagine it is still

possible, as it is the ratio of blood to spinal fluid they will be looking

at, and even though ketokids have lower blood glucose, there should still be

an approximate relevant percentage that shows thru in the spinal tap. Dunno

for sure, but that is what I would surmise?

----- Original Message -----

> Thanks, Satnam. We are excited about the new team.

>

> They are planning to sedate Langan for the spinal tap. I have seen the

needle- had a friend who had one in college and I was there. It is not a

pretty thought! Langan is really strong and hates being held down, so they

are making the right call with sedation. I hate putting her under, but I

hate her being awake when they stick that needle in her even more!

>

> How old was Satnam when the seizures started? It is my understanding

that a spinal tap is usually ordered when there is an unknown cause. It was

never ordered for Langan. I don't know if they'll find anything out with

these tests but I do think we need to at least try so we can rule some

things out if nothing else.

>

> There is apparently only one doctor who " reads " the fluids for the

glucose transmitter problem. I think he is at UCLA? Our neuro was going to

call him, though, b/c she didn't know if he would be able to read the fluid

the same way since Langan is already in ketosis. So we'll see. I am just

so excited that the docs are so aggressive about trying to answer the " why " .