Hi ,

Just thought i would give you an update on my situation.

I haven't heard back from Oxford yet with genetic testing. It could take a few more months. I've just seem my local neurologist. He is putting me forward for the 100,000 Genomes Project they are currently working on here in the UK for people with rare genetic diseases. It may take a while, i have to go to London and see my neurologist there first and will take the bloods.

Does anybody know anything about this. I hope this will finally give me some answers, but then again it may not!

There is some information about the 100,000 Genomes Project here The 1, Genomes Project | Genomics England.

THank you Kiwi, i have just received my letter from Oxford.
SCN9a ,10a, 11a, trpa1 and NAGLU were all negative for known
channelopathies.

What do you think the chances are of them being able to find out the cause from the 100,000 genomes project? My neurologist said they still may not be able to identify it?

Thanks

Different forms of some genes (for example, SCN9a, 10a and 11a) are known to be genetic risk factors for some diseases - this does not seem to apply to you.

It is certain that different (currently unknown) forms of other genes will also be genetic risk factors for some diseases.

This is the big advantage of the genome sequencing project. It will not make any assumptions about which different forms of which genes "should" be genetic risk factors.

Rather, it will sequence all of the ~20000 genes in the genomes of 100000 people, looking for different forms of all of those genes. These results will allow the investigators to say "Aha, this different form of this gene is a highly-significant risk factor for this disease.", which is likely to lead to improved treatment options.

I would be cautiously optimistic (no guarantees) that the results of the project will be of benefit to you.

Dear LouLou,

I believe that many of the conditions that afflict us remain outside the areas that are currently known by medical and even research science.

We can save our genetic information for future generations so that they can track back to us (their forebears) for understanding the source of their conditions.

Regards, ElaineD

Thank you Elaine and Kiwi, yes i am really doing all of this to help my children in the future, the more i can do the better treatments will be availble in the future for them.

I will keep you updated.

Thanks