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Never give up
Never give up hope, as there are so many new developments. Our son was diagnosed at age 13 via CGH array. I used to email the genetecist every few years. One time she said she'd send his bloods off, & I didn't expect any answers to come of it, but they did. He has a rare chromosome disorder.
Describe your child's needs
When asked to describe your child's special needs do just that. You don't need to say 'undiagnosed' as a diagnosis is only a cause of the issues, not a description.
Get a second opinion
Don't be afraid to ask for a second opinion and, if the professional is offended and refuses, go to your GP. They can refer you out of area.
Trust your instincts
You know your child best, and despite all the times people say, "just give them a little more time," trust your instincts and push for tests and referrals.
SWAN UK
SWAN UK (Syndromes without a name) is a project run by Genetic Alliance UK, offering support and information to families of children with undiagnosed conditions. You can join their community and register for their newsletter here: www.undiagnosed.org.uk
Keeping track
It can be a nightmare trying to keep track of all the different tests etc that are done. Have one notebook you always take to appointments and each time they do a new test, get them to write it down in the book for you. Make sure you keep copies of all letters.
Video evidence
My child never 'performs' for the doctors, so I'm sure for years they didn't believe me when I told them about his odd movements. Make sure you video as much as possible so you can show doctors rather than trying to explain.
Be wary of internet info
Be cautious of information on the internet. There is lots of stuff out there that isn't true. Also remember that, just because something you read may sound similar to your child, it doesn't mean they will be the same.
Get it in writing
My GP was living in the dark ages, and kept saying he wouldn't refer me to genetics because it couldn't be genetic, as only one child had problems! I asked him to put in writing why he wouldn't refer me and he changed his mind :-)
Get a letter
I hate the bit on forms that asks about diagnosis. You end up writing 'undiagnosed condition' and they think you're making it up. Having a letter from your consultant that explains what this means can be really helpful to include with the form.
Get a GP's letter
Ask your doctor to explain your child's needs to the school etc. Get your GP to write you a letter you can use to show your child still has needs, even if they don't have a diagnosis.
Don't miss out on the good stuff
Although we all know why a diagnosis is important, try not to let it take over your life and don't miss out on them growing up.
Re-visit the geneticist
If your child hasn't been seen by their geneticist for a few years, get in touch and ask to be seen again. There may be new developments, new tests etc that weren't available before.
Seek support
Make sure you have supportive people around you who you can really talk to. It's sad, but a lot of your close friends just might not get it.
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