NO I Won't introduce myself as I have tried several times and I'm sick of it thank you!

[PorridgeForBreakfast]

NO I Won't introduce myself as I have tried several times and I'm sick of it thank you!

[wobblybee]

Hi🙂 I can see from your comments..that the diagnosis is fairly recent, and it’s taken a long time.

I’m similar age to you, and my ‘journey’ has taken some time. I’ve been tearful, confused, angry…you name it..

Despite having had testing, a link hasn’t been found…I’m still simply diagnosed with Idiopathic Cerebellar Ataxia.

In one way this is a relief, I don’t need to tell my children that they potentially have the same condition. But..the question is still there, is it genetic or not..

[SilentEchoes in reply to wobblybee]

Ataxia is a hallmark of organophosphate poisoning. Take a hard look at possible environmental exposures. I have ALS and two forms of ataxia, cerebellar and sensory. My poisoning is documented.

[wobblybee in reply to SilentEchoes]

🙂 Currently, I’m waiting for results of Whole Genome Sequencing

genomicseducation.hee.nhs.u...

[suzie44na in reply to wobblybee]

Have they told you what they are testing you for? If you don’t mind me asking.

Suzie

[PorridgeForBreakfast in reply to suzie44na]

no

[wobblybee in reply to suzie44na]

🤔That’s an interesting question..I haven’t been told.

Copied from the link

It is important to be aware that virtual panels of genes may be used in clinical applications of WGS. This means that even though all of the genome is sequenced, only those genes known to be associated with the patient’s features are usually analysed. Therefore, it’s important to remember that just because you have requested a test that is described as a WGS panel test, this does not usually mean that all of your patient’s genome has been checked – just those genes that are included on the panel.

I already test negative for SCAs…1-2-3-6-7 and 17….CANVAS ( Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome)…and Gluten Ataxia

I know I have a 70% link with SYNE1

[suzie44na in reply to wobblybee]

someone told me it is best to see a neurogeneticist.

[wobblybee in reply to suzie44na]

🙂 If you’ve done private testing, it would be best to see a NeuroGeneticist to have the results interpreted for you. Otherwise a Neurologist would most likely make the referral if necessary.

The 100,000 Genome Project (🤔 TBH I can’t recall whether I participated or not) was slightly different to the current Whole Genome Sequencing…but I’m hoping WGS will be helpful. I don’t expect it will make any difference re symptoms, but I would like to know if my type is genetic.

[7151]

Well i ve learned to live with it thé best i can ! Not much choice ..i m still up and about with à walking stick ..next steep à walker ...i count my blessings i can drive ! Waiting for à handicap badge ! I have lovely home help .great suportive kids and beautiful grand children x

[Guardsman68]

Hello, my name is Lee I am 55 years old I have a brain tumor which has resulted in cerebella ataxia I also have a rare headache syndrome called SUNCT I was in full time work living my life fine until 2 years ago. Now I’m in wheelchair and have very little use of left arm / hand I’m in constant pain each and every day I’m dependent on my amazing wife and two grown up kids for all my care needs I don’t leave the house or garden area much but I’m working on that each day.

You see each and every one of us with this shitty diagnosis is different and have different symptoms and have felt or still feel why me but the only answer is well it is you and we are are in the same boat some boats are sinking faster than others and we know that but trying to bailout the water as we go along.

You have joined an amazing source of support and information here we are all sharing this road and I can only speak for myself but I have ever only received fantastic information and support and great humor from this site.

Life is ten percent what happens to you and ninety percent how you respond to it.

NO SURRENDER

Lee

[Trinity1948 in reply to Guardsman68]

I always enjoy reading your posts,you seem to come up with something different every time. Struggling with husband who had a stroke 7 weeks ago,he was my carer. Loved your comments about the sinking ship and percentages of life ! Best wishes Jeanette

[Guardsman68 in reply to Trinity1948]

Hello Trinity1948 I’m sad to your husband isn’t well I hope he’s doing ok. I try to keep a bit of humor if possible if one person smiles I’m happy 😃

I hope you are keeping well

NO SURRENDER

Lee