Does anyone have children with fabry disease?

[Al62]

My sons were diagnosed with this genetic disease 18 months ago and suffer with terrible pains in their feet and toes. They are under a genetic specialist for the disease and a chronic pain team at our local hospital. They have enzyme replacement therapy (fabryzyme) and a whole load of painkillers, but some days it is really hard to get them to leave the house and their mood (particularly the 13 year old's) can become very low. We have tried acupuncture, homeopathy and my son has seen a psycholgogist. So far their symptoms are worse than they were when they were diagnosed. Are there any parents going through the same thing? Any suggestions? Am finding it really hard to stay positive for them and feel really helpless.

sorry no, but didn't want you to have no replies.

If your DC are stuck in doors, can they chat to friends online? My DS2 (ASD) struggles in face to face contact but is really happy on facebook or playing online games with friends

Thanks for your reply, and it's funny because I was just suggesting Facebook to him tonight - he seems reluctant for some reason, but I'm really keen to get him having more contact with kids from school when he is at home. He tries texting and no one texts back, which is a bit de-moralising for him. it's also a sensitive issue so I have to tread carefully - he feels different enough because of his feet and he can't go out and hang out like other boys of his age do, so I don't want him to feel like a billy no mates. He plays on the x box but doesn't really do x box live, and prefers FIFA to cod, which again is a bit different to his mates. will keep at it though, and appreciate your thoughts.

Just wondering if putting a general question about how to give your DSs a social life when they can't 'join in' with their peers in the usual activities might illicit more information. If you haven't had any other MNs who have experience of Fabrys (which I googled after PM!! - very interested about the skin marks as well) - I know there are several with genetic conditions and access to socialisation issues that might have some ideas.
Sometimes - and I'm guilty of this - I see a thread title and think that I could add nothing useful as I know nothing about the condition. But there are lots of common issues that we all have with our DCs regardless of dx.

Thanks for the tip Auntevil - hadn't thought of that. My initial intention was to find out if anyone else's child had the neuropathic pain in case they had tried something that I hadn't. It's really hard when they are in tears with it and I can feel pretty helpless. I have to say I was a bit disheartened that noone on Mumsnet seems to have a child with the same disease - have also gone on two US websites specifically about fabrys and only had one reply from an adult with it - it's so raren and also the symptoms vary massively from one person to another. But I will gather myself together and focus on the socialisation aspect as you suggest and start another thread shortly. Thanks for your support.

al, have you tried facebook, dd3's support group is now more active on there, you could also try contact a family here it mentions a support group. There may well be people with dcs with different things but the same type of pain who may reply if you repost about that aspect too.

Not a mum, but a dad. Have some family members fabrys. It's a hereditary/family thing so usually there is support within the family or extended family which I think contributes to the lack of support out there. The good news is there are a lot of studies right now looking into lysosomal storage disorders and some tests are showing it to be far less rare than initially thought (which should equal increased interest in pharma companies).

Is ERT not working for them? fabrazyme or replegal?

There has been a lot of advancement and uptick in the community though, so definitely checkout some of the US sites. eg.
fabry.org,
fabrycommunity.com,
www.inspire.com/search/?query=fabry&submit.x=0&submit.y=0

Also talk to your doctor and inquire about tegretol for pain - seems odd, but it's been shown to work.