Tuesday 15th March 2011

Having a day off work to look after Imogen after having to take her to A & E on Sunday. Her perpetual cold had moved onto her chest and had given her severe Conjunctivitus as well. Whilst waiting for the next session of battling with Antibiotics and eye ointments I called Dr Steward to see how her test results were progressing.
Wished I hadn't asked. He's concerned that her hearing tests weren't as good as they hoped and believe the audio signals aren't getting from her ears to the part of her brain that decodes the information. This means further tests. Worse is that she's in the lowest percentile for brain size and highest for fluid volume around the brain. That can mean a lot of things, but learning difficulties could arise later on and the fluid volume could be due to reduced functionality of the cranial and spinal canals. The benefits of a Bone Marrow transplant are starting to be outweighed by the risks (MIOP needs a very complex transplant procedure in order to be effective). DNA testing is still being carried out by the DNA lab in North Bristol, by Bristol Childrens Hospital (Chlorine Channel detection) and Great Ormond Street (Proton pump sequencing). All this high tech jargon means they're basically trying to determine why Imogens Osteoclasts aren't working (Osteoclasts create the natural bone marrow voids in our bones).
What is causing concern is that they still haven't come across one defective gene sequence in the Chlorine Channel, let alone two (you need at least two to cause a genetic defect). That limits the effectiveness of a transplant. Secondly she has already lost her eyesight. That means they don't need to transplant to preserve vision. Thirdly she has a high red blood cell count. If her count was low then that would create the urgency for a transplant. Fourthly they haven't got a scooby what's causing this condition.
In the words of Doctor Steward, they're entering unknown territory. If the tests all come back negative then their last option is to go to probably the worlds best genetic disorder research lab in Italy to see if they can sequence the rest of her DNA for something new.

In the meantime Doctor Stewards priority is Imogens delayed development. They will keep that as their focus and aim their testing and treatment at this. I'm not expecting much to happen for the next few weeks.
We've been warned that if it's not a condition that's Steroid treatable that we have to be prepared for the long haul with lots of waiting for DNA results.
Not a very cheery one this time so lets hope for good news on the next one.

Wednesday 9th March 2011

MRI scan day. This is to assess her brain condition and to be used to compare to her previous MRI to determine if there's any deterioration.
Not much to say about this. It's never nice watching a small child going under General Anaesthetic. As usual, while we fretted, Imogen took it all with stoic indifference. Having been starved since 02:30am when she came round after the scan at 09:30 she tried to chew my arm off. Whilst I carried her on foot from the MRI unit back to the Childrens Hospital Imogen never stopped feeding.
Just have to wait for the results now. You know what's interesting is that whilst we've been having all these tests done we've been treated like royalty. You always feel that people are somehow honour bound to say that the staff have been 'fantastic' when they've been treated for an ongoing condition. But now having been in that position I have to agree. It really is remarkable how a small child having a serious condition seems to break down the barriers. I've lost count of how many times I've heard ' Oh you're a bit early, go straight in they'll see you now' or 'She's so little we'll test you first so you can be on your way' or my personal favorite 'I'm not happy with her chest I'd like her to have an X-Ray'. Why is that my personal favourite, well in the time it's taken you to read this blog I walked down the corridor to the X-Ray Dept where the Tech was expecting me. He did the X-Ray, I walked back to the Doctor who had the results on screen and had declared her safe and had prescribed the treatment, it was that quick, gotta love the NHS.
Just the results to wait for now, for the MRI and the audio-visual testing.

Friday 4th March 2011

Today is hearing and eyesight tests at Bristol Childrens Hospital. This will assess obviously her senses but also her brain stem function. Jim Jam was as usual a star and the Technicians blitzed through the tests in record time. She had a nest of electrodes glued (I kid you not) to her head and then she was subjected to various speeds of strobe lights followed by strobes and sounds through headphones. The headphones, I think, were huge bakelite items circa 1930 so it was a bit like strapping dustbins to her head. So I sat there holding Imogen on my knee with one hand, jamming a bottle in her mouth with the other, her head covered in electrodes wired into a machine, with a tech holding the headphones on her, another one occasionally waving a dinner plate sized strobe in her face. All this taking place in a room the size of a broom cupboard, if there had been a fire we'd have ended up in one huge cats cradle in the dash to get out.

Anyway as I say Jim Jam was a star, promptly falling asleep as soon as they blasted her with the headphones. We were out of there in no time and had a nice relaxed drive home. Her head now looks like a patchwork quilt where the glue removed her cradle cap (with the aid of Acetone!), but at least it's done. Now for the next test. MRI due next week.

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...