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Anyone had a grandchild with disautonomia?

(32 Posts)
Whiff Sun 11-Feb-24 11:33:52

MOnica has your grandson ever had his whole genome genetically tested? It's a simple blood test . That's the only way I finally got diagnosed because my neurologist here had the test done. All the electronic and visual tests I was never diagnosed it's only by having having my whole genome genetically tested that found it. Just an idea.

M0nica Sun 11-Feb-24 09:13:22

Thank you Whiff (and LautaNorderr). It seems that disautonomia is linked to Ehlers-Danlos Syndrome, a problem involving hypermobility, which DDiL has, thankfully very mildly, and they have a whole section on the disease on their site. including an excellent handbook for the young people with this problem prepared by the Mayo Clinic.

Your idea of seeing if there is a Facebook page I will follow up.

Thankfully DGS, is an academic high flyer and, as his parents have just been told the Year leader in almost every subject he studies (whch is actually a characteristic of chldren with this problem although doctors do not know why), so he is not falling behind in his learning, with all his absences. His main problem is bouts of overwhelming fatigue, a bit like CFS.

Whiff Sun 11-Feb-24 06:14:14

MOnica have you tried the rare disease society as they gave me a link for a Facebook group page for people with hereditary Hyperekplexia when I had my diagnosis in 2022.

Also the hospital should be able to tell you of any support groups . Or Google the condition there may be a charity for it or it may come under the heading of a combined charity.

Worth a try anyway. 🤗

LauraNorderr Sat 10-Feb-24 22:12:07

I’m sorry to hear that your family are going through this and wish you all well

LauraNorderr Sat 10-Feb-24 22:11:20

I’ve just read your thread re school attendance officers. Seems rather heavy handed. They clearly haven’t understood the issues.

LauraNorderr Sat 10-Feb-24 22:09:23

I’m sorry MOnica, I do not have any experience of this but am bumping your thread in the hope that others will see it and be able to help.

M0nica Sat 10-Feb-24 21:11:34

Never heard of diautonomia? No, neither had I until yesterday afternoon when I was told DGS, aged 13, has it

It is do with the automatic systems that regulate our body - heart function, bowels lungs, digestion etc. These become less reliable than they should be. DH has just had a pace maker fitted because his heart was not beating in a regular fashion - this is a an example of a disautonomic problem.

However a version also exists that affects pubescent children, mainly girls and manifests itself in sudden patches of extreme fatigue, nausea and vomiting, diaorrhea etc and various other vague complaints, which in girls is so often just seen as a mental health issue.

We are lucky that DGS, in old fashioned terms has always been a 'delicate child' health wise. He is, and has always been painfully thin and he has grown nearly a foot in the last year, so, when he began to get all these other problems, his medical history was such that his GP quickly referred him to a paediatrician and this was the diagnosis.

The problem is that it is not a very common problem and we all know little or nothing about it, so I just wondered whether someone on GN might have some experience of it in their family.