The 22nd July 2019 is a day we will never forget, the day our little boy was diagnosed with a progressive neurological disorder called Leukodystrophy, he is 4 years old.
Frankie was always slightly delayed when meeting milestones, slow to sit, slow to crawl and didn’t manage to walk, after a few years of the unknown he was diagnosed with Cerebral Palsy early this year but after an MRI we were called in to see the Neurologist who broke this heartbreaking news to us. We were told that Frankie has a leukodystrophy called h-abc or tubb4a, there are over 52 types of Leukodystrophies and this is a rare one, approx 200 known cases in the world.
Each case presents differently but it generally begins in early childhood and children will eventually lose the ability to walk, talk, use fine motor skills and some need to be tube fed, this is a progressive disorder and cuts lives short. We will slowly lose our Frankie.
The next week was quite a blur, we couldn’t eat, sleep and could barely breathe, thinking about our baby and all the plans we had for him which had now come crashing down.
After the mist started to lift we started researching, knowledge is power, we found every piece of literature on the internet about the condition. We read everything we could about Frankie’s condition and what to expect in the coming years.
One of the lightbulb moments was when we discovered that the Children’s Hospital of Philadelphia is working on gene therapy for this type of Leukodystrophy. Dr Vanderver and her team are making progress and a cure could be in sight.
This was a turning point, we are not going to lose our baby - we are going to FIGHT FIGHT FIGHT.