Frankie had been very slow in meeting his milestones. He was slow to sit up, slow to support his own head, and slow to talk.
Mother and toddler groups are always such a competition of ‘my child did this for the first time’ and ‘oh, my child did that’. After a while, I couldn’t help but think ‘well, why isn’t my baby doing the same?’
However, slowly he always met them – just later than your typical child.
We weren’t overly concerned for the first year or two, but when our friends’ babies were beginning to take their first steps, Frankie wasn’t showing any signs of walking at all. He just didn’t seem to have the strength and balance to do it.
Once he hit two years old and still wasn’t walking, my husband and I decided to take action. We were referred to physio and after our first session was told that he could be hypermobile.
‘He’ll be able to walk,’ the professionals told us, ‘He could even be a good dancer one day with his loose joints.’
Our worries were eased. He was just overly flexible.
But by age three, he still wasn’t walking and that’s when the physio told us that Frankie might have cerebral palsy.
Their thoughts were confirmed by a neurologist we were referred to, who took one look at Frankie and said that he presented very classically as a child with cerebral palsy.
To be sure, however, he decided to follow his diagnosis with an MRI scan. With cerebral palsy, there tends to have been something at birth that has starved a baby of oxygen. Frankie was a planned C-section, with no issues at birth.
Frankie’s MRI didn’t show any signs of scarring on his brain (the classic sign of cerebral palsy) and instead showed a general fading of white matter all over the brain.
That’s when we were told that our toddler might have leukodystrophy – a white matter disease.
Leukodystrophies are rare, progressive, metabolic, and genetic diseases that can affect the brain, spinal cord and often the peripheral nerves.
Because the diseases are progressive, meaning they get worse over time, some children born with a form of leukodystrophy may initially seem fine.
The doctors sent off for full genome sequencing and identified the gene that had mutated in Frankie and could identify what type of leukodystrophy he had.
There are more than 50 different types, but they’re all very different in terms of progression and how early they show.
Frankie was diagnosed with hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) – a severe form of an incurable and life-threatening disease known as TUBB4a leukodystrophy.
It was a massive shock and we were absolutely devastated. He was only four years old.
We’d never heard of anything like this before. After Googling it for information, we discovered that if your child has leukodystrophy, they usually have just two years to live.
That, however, was a worst-case scenario, so we dug deeper into our research and found that the type of leukodystrophy that Frankie had was a slower condition.
We found lots of medical papers and learned that patients with H-ABC can develop seizures, muscle contractions, hearing and speech difficulties, and experience uncontrollable limb movements, while others who have developed motor skills in early childhood can regress.
Babies and children who develop the disease often die by their late teens. It was horrifying to think of that future for our baby boy.
Frankie is now seven years old and he hasn’t started deteriorating. If anything, he’s still progressing, but a day will come when things will start going downhill.
He goes to mainstream school and uses a walker to help him move about. He’s out in the playground with his friends. His speech isn’t amazing, but we can understand him and he’s even learning to read.