I always felt bad that I didn't keep Liviana's blog updated. She was doing great though and part of me was happy to not have to update on medical issues.
I am saddened beyond sadness however to make this newest update and begin a new journey and fight in Liviana's life.
At this time, I am not going to recap the slow, progressive decline that led us to this new diagnosis. I likely will throughout upcoming posts but I told the same story about 10 times in the hospital this week and don't have it in me to go through it again.
Liviana has been diagnosed with a rare genetic disorder called Leukodystrophy. There are 2 dozen types of LD and we are awaiting tests to determine what type she has. The hard part....LD is not treatable. It is a progressive, degenerative brain disease. She is basically losing the white matter on her brain. I am sure I will talk in more detail about LD later but that is the basics for now.
Livi has significant gross and now, fine motor skill deficits. She has difficulty walking, although she surprises us at the end of the day with a mini-rebound of sorts. She has balance and coordination issues and hand tremors. She has lost her gag reflex and is on thickened liquids to prevent further aspiration (which a swallow test revealed) into her lungs.
She is still so so beautiful, funny, witty and a ray of sunshine wherever she goes.
She is surrounded by love and we will do all we can possibly do for her.
This is short and sweet. Her blog will become active again so there will be more updates. I am overwhelmingly fearful, in denial that my daughter will not be here one day and hoping that the doctors are wrong, although that is 99.9% not possible at this point.
I welcome all of the research warriors out there to search out information on Leukodystrophy. She does not have ADL, which only effects boys. They believe she may have one of a few types...the two they mentioned were Metachromatic and Krabbe's Disease. At this point her EEG looked normal and she her optic nerve looks great. There is experimental gene therapy being done in Europe for Metachromatic LD.
That is all for now. When I have a chance I will update her photos on the blog. She is an amazing beauty, inside and out.
Thank you to everyone for your support and love. It keeps us going!
Check up DAY!
3 weeks ago