“We know that hope is so important”

Mimi Petty writes about Bertie, her son who passed away from CLN1 Batten disease at the age of four. Mimi writes movingly about the devastation of a diagnosis of disease with “no treatment and cure”, Bertie’s relationship with his little brother Stuie and the enduring impact Bertie had on all those who met him.

I remember going to a baby-group with Bertie when he was around 17-months-old and the look of surprise on the faces of other mums when they would ask how old he was, as they thought he was much younger. Bertie wasn’t walking or meeting other milestones and although I knew things weren’t quite right, there’s nothing like seeing your child in a group with other children the same age, for the differences to be made so obvious.

Searching for answers

My husband Andrew and I got on the case… but the professionals weren’t. The health visitor blamed Bertie not meeting certain milestones on the fact he’d been in hospital with bronchiolitis many times as a baby. As the months went on and he still wasn’t walking, the GP said he just needed insoles in his shoes to help him walk and that would solve it.

When we finally saw a Paediatrician, an MRI was booked but the results came back inconclusive. The very next morning after the scan, Bertie was sitting on the floor playing, when he crashed backwards onto the floor, hitting his head. This continued to happen and Bertie began to fall into doorframes and onto his face which became bruised and cut. It was found that he was having around 50 seizures every day, and these were just the ones we counted in the daytime.

Two days after Bertie’s second birthday party we were given the diagnosis of CLN1 Batten disease. We were sat in a room at the hospital with a box of tissues right in front of us and alarm bells started ringing. We were told our beautiful son had a disease with no treatment, no cure and a short life expectancy. Afterwards we had to get a commuter train back from London to Kent, holding our precious boy in our arms and try to find the courage to tell our family and friends what was to come. Somehow we had to explain to Stuie, our four-year-old, what was happening to his little brother. I remember at the time feeling that absolutely everything in our lives was going to fall apart. I wanted to escape, but there wasn’t anywhere to go.

Adjusting to a new way of life

We quickly had to adapt to our new lives. I quit my job in London and instead found myself working harder than I ever had before, managing 30 different professionals. Some days we would have back-to-back meetings and assessments at home, with everyone needing tea making for them and leaving us completely drained, but with the hope we had jumped through all the hoops we needed to get the funding/medication/care/support that we needed for a little while. I was warned that we would have to fight for everything and this couldn’t have been more true. Some of the most desperate fights were for a wheelchair with a head support that didn’t keep falling off whilst we were travelling in our wheelchair accessible vehicle, requiring us to urgently pull over and find the spanner to try and reattach it. Or trying not to burst into tears in the pharmacy when I was told yet again that they hadn’t been able to get hold of one of Bertie’s epilepsy medications and that I should just call round every other pharmacy in the area to see if they could get hold of it.

Bertie himself was still our son and our hearts overfilled with love for him. We loved going out on family outings when he was well enough and felt mightily proud of our courageous and handsome boy. Stuie was an incredible big brother and Bertie’s face would light up when he heard him running in from school and launch himself onto his little brother, covering him in kisses.

One of the most reassuring things we were told by Bertie’s neurologist was that he would always know our voices. This was such precious information and even more so when Bertie died in September 2019, a couple of months before his fifth birthday. He knew we were with him and that he was so loved.

Remembering Bertie for his unique gifts

200 people came to Bertie’s Thanksgiving and Stuie, who was only six-year- old at the time, stood up with the microphone and told everyone about his brother. We were told what a huge impact Bertie had had on everyone who met him. Every carer, professional, friend or family member who had met Bertie commented on how peaceful they felt when around him. We didn’t talk about fighting Battens, but about how Bertie had a unique gift of endurance – we couldn’t be prouder of our son.

We know that hope is so important when times are incredibly tough. Our hope is in Heaven and we can’t wait to be there one day with Bertie as he shows us around, to introduce him to his baby brother Henry and to be back together as a family.