Hi, you may have noticed there has not been any blogs for a while..that is a good thing! It's because we took lilly home from hospital and luckily, praise the heavens she has not needed to go back! So here is where we are after nearly 3 months later....
Lilly had the rpt MRI of her brain in december, it showed delayed myelination ( the nerve coverings in the brain are not growing) and deterioration or grey matter. Loss of brain tissue and extra fluid around the brain. Not sure exactly what all that means other than there is a serious brain growth abnormality.
EEG, same as previous one so no new light there.
Chromosome 3 duplication ruled out as the cause as her dad has the same mutation and he is fine.
Bloods, metabolic tests etc so far all normal.
We have been weaning the medications and seeing a definate improvement in alertness and activity. The tegrotol, was 1st to go, followed by the peroxidine, then the keppra. On thursday we begin the 8 week process of weaning the phenobabr..GULP And then as planned she will only take the epilim.
She is rolling over on to her tummy now, gets stuck when she gets ther..lol so funny. She is lifting her head up more. Still unable to sit, and we have noticed a slight curvature in her spine due to her always slouching to the left. Novita ( disability support service) has supplied us with a giraffe chair which will help her sit in correct alignment.
she is grabbing at toys and things more and appears way more like a 6 month old now than a 3 month old..so i don't care what the MRI says i think she has potential!
She has had her 1st birthday and finally been christened, and she slept all through that! The docs think she might have an autosomal nerve disorder due to her "hibernation" like sleep, her temp, heart rate drops and she goes all pale and difficult to rouse. Some other mystery to add to the list.
Her VEP ( eye test) shows she can see, but dont know what or how much as there is a problem with the light receptors in the back of her eyes, which is likley to get worse over time, so she may not be able to see.
Awaiting more hearing tests, but we are sure her hearing is fine.
She is nasogastrically fed still, and since leaving hospital has been refusing anything orally, to the point that she screams if i try to put it in her mouth, so currently working on getting her to accept food/drink again. She still chokes/gags when i do manage to get some in.
She is on the waiting list for a gastrostomy tube, a tube that geos into the stomach through the tummy, for feeding, 6-8 weeks is the waiting list atm, as semi-urgent. Her feed regime changes on a weekly basis, so we just try hard to fit it in our routines etc.
Oh and i have a pole like in the hospital for her pump and feeds thanks to a dear friend :) Whose son passed last year from a similar problem as lilly's.
So there we are, still awaiting a diagnosis which may never come, knowing that it is a possibility our buba could get worse as she gets older, but no one really knows. Just focussing on the here and now, what she needs now, and what she can do know and has the potential to do!
