Connie and Joe’s story

Up until the age of five Connie was a typical little girl. She loved the Disney Princesses, her favourite colour was pink and no amount of sparkle and glitter was too much. She was exceptionally bright and fiercely independent.

For me the biggest part of Connie’s personality was her sense of humour. She was witty beyond her years, her quick one-liners could leave you giggling for hours afterwards. Connie had a cheeky, mischievous streak and wouldn’t feel the least bit guilty for belly laughing at somebody else’s misfortune.

We became increasing worried about Connie after she started school. Initially we noticed her concentration levels were not what they once were. She stopped wanting to read and write, things she had previously enjoyed. She became forgetful and struggled to carryout simple tasks like putting on her shoes.

We originally suspected that Connie was having difficulty settling in to her new school. However it quickly became apparent to us as her parents that it was something much more serious. We had difficulty getting people to listen to our concerns, especially Connie’s school who had labelled her as the naughty child and us as neurotic parents.

Eventually somebody did hear us and subsequent tests revealed Connie had MLD and our world fell apart. Two short months after diagnosis and at the age of five and a half Connie took her last steps, just a few months later Connie spoke her last words.

Four years on and Connie is completely dependent on others for every aspect of her care. She takes a cocktail of drugs in an attempt to keep her as comfortable as possible. The condition has not only taken away everything she had previously learnt, but has also inflicted seizures, scoliosis, dystonia, blindness and there is still more this disease is able to dispense.

As MLD is a genetic condition Connie’s younger brother Joe was tested after her diagnosis. Approximately one month after Connie was confirmed as having MLD we were left reeling again when we received a phone call confirming Joe had also inherited the condition. He was just three and a half.

Doctors felt it was not in Connie’s best interest to offer treatment as disease progression had been swift and she was already struggling with symptoms. Joe was pre-symptomatic and he was offered pioneering Gene Therapy treatment being trialled in Italy. We all travelled to Milan in November 2014, Joe was admitted to San Rafaele and began chemotherapy straight away. Joe spent 50 days in isolation over Christmas and into the New Year and in total we were in Italy for four months. As the Gene Therapy treatment is a clinical trial Joe has to return to Italy every six months where he undergoes medical assessment.

We are nearly four years post-transplant and Joe continues to live life to the fullest and we encourage him to make the most of every opportunity that presents itself. He is caring, compassionate, thoughtful and takes everything in his stride. His positive ‘glass half full’ attitude makes us proud every single day. 

Connie and Joe have taught us how to dance in the rain, make the most of what we have and cherish every precious moment. Even now Connie is able to light up a room with her smile and it is hard to put into words the overwhelming euphoria you are left feeling if you are privileged enough to hear her chuckle. Their bravery and courage inspire us to keep going.