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Help me survive the wait for referral and diagnosis

(3 Posts)
Booboostoo Wed 17-Oct-12 18:04:45

Long story short but DD (16 months) had a very simple fall, just walking fell sideways and onto her bum, but was clearly in pain and refusing to put weight on left leg. Docs 1 and 2 agreed that it was a sprain and no need to x-ray for such a young child as children do not break bones so easily. A week later Doc 3 was more concerned and started tests for a variety of other things, all clear, eventually x-rayed because I had noticed her toe was red and found a recent break in her left leg AND an older break in her right leg which we had not even been aware of!

I can't quite explain the shock of this discovery. I am SAHM and DP works from home so DD is never out of our sight. She has NOT had any falls other than the 'usual' falls toddlers have when learning to walk but the docs insisted first fall was from a height because kids don't break their legs so easily. After a horrific time at hospital where I had to convince the docs DP was not battering her and DP had to convince the docs that I was not hysterical with tiredness and dropping her, they finally decided it could be osteogenesis imperfecta, brittle bone disease. Children with this condition have multiple fractures where other children would have been perfectly fine, there is no treatment but there are some supportive messures that can be taken and, of course, the family needs to adjust its life around this condition (of course I am horse mad and have had horses at home for the last 15 years, you just can't beat the irony of life's coincidences).

This is a really difficult disease to diagnose so we are waiting for a referral to a specialist (we are not British so we are looking all over the world). However, referral times are very long as the disease is really rare and specialists are very overworked. We will certainly be waiting weeks and perhaps months to even see whether this preliminary suggested diagnosis is correct. Meanwhile we are scared of every move DD makes and every time she cries we are both wrecks as we are no longer confident that she is not constantly in pain. At the moment we are living in limbo, if we at least had a diagnosis we could think about the future.

cestlavielife Wed 17-Oct-12 23:54:09

Maybe go onto the oi sites like

Booboostoo Thu 18-Oct-12 13:52:09

Many thanks for the link. There is a lot of info on OI online and the FB parents group is great, but the wait it still really tough. It seems to be a rare disease with very few specialists, all of whom have long waiting lists. In the scheme of things DD is not classed as urgent as she only has had 2 breaks, other children can have multiple breaks and problems at birth, so we have to wait, but it's still not easy.

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