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.
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