Georgie has always been a slow developer and at nearly 3 years old she still can not walk or talk.
In October she started being sick, this happened many times a day and her weight dropped from 12.4kg to 9.3kg in March. There was initially a scare of a void filling growth in the brain. This resulted in an Emergancy MRI scan in April where we descovered she had an abnormality in her white brain matter and would need to go into hospital for tests. It is understood that this abnormality is causing her vomiting.
She went to ward C3 in Addenbrookes and had many tests including blood tests, a CT scan, Lumber Puncture and skin and muscle biopsies.
This is what we know: Georgie has been diagnosed with a form of leukodystrophy. Leukodystrophy is the name given to all diseases of the white brain matter and basically means 'vanishing white matter'. there are 35 known forms of Leukodystrophy and it affects about 1 in 5000 people.
Unfortunately it takes on average of 2 years to diagnose the form of Leukodystrophy we are dealing with and it is so rare that 30% of Leukodystrophies go undiagnosed. When young children have this disease it is usually progressive, therefore in time Georgie will loose skills before becoming bed bound. It will also shortern her life - I expect we will be very lucky if she makes it to 25/30.
Unfortunately it takes on average of 2 years to diagnose the form of Leukodystrophy we are dealing with and it is so rare that 30% of Leukodystrophies go undiagnosed. When young children have this disease it is usually progressive, therefore in time Georgie will loose skills before becoming bed bound. It will also shortern her life - I expect we will be very lucky if she makes it to 25/30.
So far all of Georgies tests have come back negative and therefore all common forms of Leukodystrophy have been rulled out, such as Alexandras disease and Krabbes disease. Therefore we are looking at a very rare form. There is a very high chance that this is genetic and therefore Ian and I have a 25% chance of future children having this disease and a 50% chance of the child being a carrier leaving only a 25% chance of having a healthy child.
Regarding the severe reflux that has developed as a result of this neurological disease Georgie had a J-Peg inserted. She does not eat. All food is provided as a milk formula that is given to her over the night as a 16 hour feed through a pump that delivers it at a rate of 1ml per minute. Her peg means that this feed is delivered directly into her upper intestines therefore the milk does not collect in her stomach and therefore she is not sick, however she does continue to bring up bile. All medicine needs to be given through the tube. Since the tube was put in in May Georgie has continued to gain weight and now weighs 11.5kg. We are hoping that she will reach 12.4kg again by her 3rd birthday - a year after she was last at that weight!
Georgie starts pre school in September and we are hoping that this will help her continue to develop skills. We are trying to continue her development to try and slow down the loss of skills that will start in time. We are also learning Makaton so that Georgie can comminucate with us despite not being able to talk.
Georgie has an MRI scan on the 20th but will need to be under a general anesthetic for it and we wait for the next round of tests! Diagnosis will just inform us what we can expect in the future e.g. how long we have left!
