Background

I've decided to start this blog because of the sucker punch Wendy and I had just a couple of months ago. I apologise in advance if I don't pull any punches but I feel it's important to relay it just as it's unfolded. Many of you will know of her ongoing condition but for those who don't or who don't know the latest status hopefully this blog will help. Our gorgeous little poppet Imogen had been diagnosed with Nystagmus (roving eye syndrome) last year. She never fixed on or followed anything, even us. After various examinations by Paediatricians and eye specialists in Cheltenham and Gloucester Hospitals there was a suspicion that something else was going on.
We were referred to Bristol Childrens Hospital where, whilst Imogen was being assessed, the consultant walked quietly into the room and announced that he was pretty certain she had MIOP. Malignant Infantile Osteo-Petrosis is a Genetic Bone Disorder that is fairly nasty and extremely rare, 4-5 cases per 1 million births. They currently have 1 other case on the books and that's their first case in 5 years. Basically her bone marrow isn't functioning to hollow out her bones, so they just get more and more dense.
Her 'Nystagmus' was actually down to the fact she was losing her eyesight (the excess bone causes the optic nerve to atrophy).
She also has badly delayed development, due almost certainly to the severe strain her condition puts on her.
The bad news and the good. The bad news is, if untreated it's terminal. Good news is that a succesful bone marrow transplant has a very good chance of giving her a normal lifespan.
Caitlin's been tested and isn't a tissue match. Myself and Wendy are no good as Imogen only has half of each of our genes so we can't be a match, now our hope is that we find a match in the National Bone Marrow Register.

Meanwhile testing is ongoing to assess her eyesight, hearing, neurological function, development etc...