100,000 genome project

[JellyBaby26]

I have posted previously that my dd had a mitochondrial disorder however despite exome sequencing and full mitochondrial genome sequencing they have found nothing of note.

So the only other stage is to take part in the project. Has anyone else? I k ow it's not a quick thing but how long did you wait before you heard anything?

It's so difficult living with a SWAN. She is so adorable but has not hit one milestone in 8 months

We have been in the project since November, no result as yet.

My son has complex I and IV deficiency (mitochondrial disease)

His development has improved dramatically since starting the ketogenic diet (at my request/insistence)

Kanga can I ask how they found out those difficiencies? What tests were done?

We were told we could only go on it if her exome and mitochondrial genome sequencing brought back nothing.

I am going to ask about the ketogenic diet at our next appointment as I would really like to see some sort of development. She was beginning to show some signs and was even propping her self up in a sitting position back in November but then she had myclonic jerks and was put on a medicine which has made her go ever so floppy

My sons been on it but only since November. Not really expecting to hear anything tbh although it would be nice to.

The complex I and IV deficiencies were found in muscle. Has your daughter had a muscle biopsy?

My son previously had a skin biopsy as well (which you can't measure mitochondrial function in but they did it first to rule out PDH and PDC deficiency). He has PDH deficiency aswell which was found in the skin sample.

I believe there are some contraindications to the ketogenic diet so these will need to be ruled out before going ahead. It took around 2 months for us for these contraindications to be ruled out.

Have they ruled anything out for you?

we could only go on it if her exome and mitochondrial genome sequencing brought back nothing.

This was then case for us too.

Dos your daughter have normal range function of complexes I to IV?

She has had a muscle and skin biopsy , both of which came back normal.

I think we have been on the same thread before and you mentioned Prof Poulton....? Anyway she believes it's not a mitochondrial disease that DD has, so it's not ruled out but looks doubtful....

Yes I think so too. Hopefully you will find the answers. So they don't think it's metabolic? Have they said which area they are looking into? has your daughter had an MRI?

I think it could still be...to be honest we are a little in the dark .

She had an MRI on day 6 of life. It suggests a respiratory chain disorder but the test for that came back normal. It also mentions a metabolic crisis....but no idea. The whole time everyone has assumed it was a mito disorder so I have no idea where we stand now!

Hi, can I join? I saw this pop up on active threads. My daughter has infantile spasms which is a rare epilepsy, but so far (a year into it) we have no underlying cause. Epilepsy gene panels found a mutation of uncertain significance and we are waiting to see clinical genetics. Our consultant has suggested we are entered into the 100000 genome project but I guess that's up to the geneticist. I'm finding it all quite frustrating, we waited 8 months for gene panels and now nobody knows what the results mean....

Infantile spasms here too! And many other different types of seizures!

Have you been tested for the error?

No, not yet. We are expecting clinical genetics to test us. Are you part of the infantile spasms community jellybaby ? PM me if it would 'Out' you.

I didn't know there was one?!

www.facebook.com/groups/infantilespasmscommunity/ it's an international group but some of the Brits have been talking about setting up a UK subsidiary.

Well, we are now all signed up!

We all gave a number of vials of blood this morning, although dd wasn't feeling very generous so they only got enough for 2 with her...can just see us being called back!

Hopefully not and the next time you hear from them will be a result! good luck with it. and let us know if you go down the keto diet route x

My DD has infantile spasms too (amongst other issues) and we're currently awaiting results from full exome sequencing.

I'm unsure of the difference but is the 100,000 genes project running full genome sequencing?

Yes that's right Zampa. The output will be massive which is why it will take so long to get a result, if ever.

A question for those of you who work in this field - was talking to a friend whose son has same rare disease as my DS and she wants to know if this type of project - mass genome sequencing of rare diseases is being done anywhere else in the world? Do any of you know?

I'm assuming that private (non-UK citizens) would not be eligible to enroll in the 100,000 Genomes Project?

So at our last appointment dd's neurologist said they are working to 6 months for results bit this is not what we have heard from elsewhere?

We are on it, been told it could be several years before we hear anything, so we just go with the "working diagnosis" until then