Diagnosis stress!

[Louisajane27]

Ds2 has quiet a few problems these include: brain damage, hole in heart, hearing loss, eye problems, enlarged liver, enlarged spleen, relies on gastric tube feeding and 24 hour oxygen.

Before he was born lots of different doctors started guessing what was wrong first we were told a stroke, then mitochondrial disease, then a rare genetic disorder, then it was all due to some sort of infection and this afternoon I received a phone call from his paed saying they are exploring metabolic disorders. I have a meeting with the genetic team tomorrow and my head is full of ifs and what's!

How do you all cope with the diagnosis process? He's only 16 weeks and I've been told that we may never find out what has caused everything, how do you all cope? I feel like I'm going mad!

You are in such a difficult and scary place, in the early days, where there are so many paths and tests.

My ds is 4, from the age of 10 months he has had numerous scans, bloodtests etc, individual issues have been found, but no overall diagnosis has been made, although he now has a likely diagnosis of a recently discovered genetic condition.

It is very hard, but try to focus on the support your ds needs, whatever the cause, and of course enjoy him as much as possible!

Have you heard of SWAN Uk (Syndromes Without A Name) undiagnosed.org.uk/ a support group for children who have no diagnosis, they have a very supportive forum and fb group.

Thank you both so much for your replies

Hazeyjane thank you for the link to swan, lots of great information will definitely be joining.

Zzzzzz your right I need to focus on ds2 and diagnosis can sod off! Sometimes I think its a good thing not knowing and then they can't tell me that ds2 has "this many years to live" or "will develop these list of difficulties"

Thank you both again for all your help

I don't have a magic answer to this, as I would probably be a millionaire if I did, but I would not bother about why - what is causing all these things!

We have a dd1 who was over the years diagnosed with profound language disorder, dyslexia, dyspraxia, profound memory problems....Normally, there is no answer why children develop these hidden disabilities. She developed epilepsy at 12, and ended up at GOSH (because it turned into severe, drug resistant epilepsy). GOSH found when she was 16 that she has a congenital brain abnormality, which causes all the learning difficulties. She could die at any time. Knowing what caused her problems has never made us feel better. As said above, the important thing is to focus on your dc's needs, getting them the help to alleviate those difficulties and giving them the best quality of life you can.

Take it one day at a time - concentrate on getting through each day, and don't think too much about the future. Try to make time to do things you enjoy, and give yourself things to look forward to. If you don't look after yourself too, you can't look after dc.

We are going through exactly the same with our 16 week old. I have decided that rather than getting our hopes up for a diagnosis after every (endless) test (currently on metabolic disorders also after lots of genetic tests) we are going to forget about it and just concentrate on what he needs this week. So this week we are focusing on developing his motor skills as he would need to develop them regardless of what diagnosis he ends up with. I stave off the madness by putting my time into getting him to meet the target the professionals are setting. So for example I made a corner of his nursery into a little sensory area this weekend and we have done some of his physio in there today. It took me all last week to research and order the stuff and then Monday to set it up.

Tomorrow when his physio and OT visit I am getting his prams out (currently on 3!! With a 4th potentially winning on eBay tonight!) to see which will be best for him as he is outgrowing his lay down carrycot. I will then spend some time adapting the pram as advised.

Sorry posted before I finished...

What I was saying in an elongated way is I am focusing on the here and now to try and keep some control over a situation I can't control.

Good luck with it all x