A devastating diagnosis has taken away a little girl’s ability to walk and speak. Meet Florence Swaffield, a three-year-old who has been diagnosed with a rare form of dementia that begins in childhood.
Florence was an active and joyful child who could walk and even ran down the aisle as the flower girl at her parent’s wedding in September 2021. But just months later, her condition started to decline rapidly. Florence began falling over up to 100 times a day, and she lost some of her communication skills. Now, she can only say ‘uh oh,’ according to her parents.
This heartbreaking condition is known as CLN2 Batten’s disease, and there is currently no cure. Children affected by this disease have a life expectancy of only six to 12 years. As the disease progresses, Florence will regress to a baby-like state, losing the ability to communicate, walk, and even eat or drink independently.
Despite facing this grim prognosis, Florence’s parents, Phoebe and Joe, are determined to give her the best life possible. They want to raise awareness about her rare genetic condition and also gather enough funds for pioneering gene therapy that could potentially help her.
Florence’s mother describes her as a cheeky and funny character who is full of life. She has an infectious belly laugh that brightens the room. Phoebe shares, “In a way, we are thankful that we were oblivious to Florence’s condition as we were able to make such special memories together that we will cherish for the rest of our lives.”
Florence’s journey to diagnosis has been a challenging one. Her parents had suspicions about her health from an early age as she refused to eat or drink and slept for excessive hours. After relocating from Spain to the UK for better medical treatment, they went through numerous studies and tests to discover the cause of Florence’s symptoms. It was only when they were assigned a special educational needs and disability key worker named Jill Leonard that they found out about genetic testing, which confirmed the rare condition.
Not only does Florence have CLN2 Batten’s disease, but she also has another rare genetic complication called Ververi-Brady Syndrome. This combination makes her the only person in the world with both mutations occurring simultaneously.
Currently, Florence receives an enzyme infusion every two weeks at Great Ormond Street Hospital in London, which she will need for the rest of her life. However, her parents are hopeful that gene therapy will become available and improve her prognosis. They have set up a GoFundMe page to raise funds for potential private treatment and home adaptations.
Phoebe says, “We are saving every penny for a potential treatment or for technology. Anything left over will go to the Batten Disease Family Association and other charities supporting families with Batten disease.”
As Florence continues to lose motor skills in the years ahead, her family is preparing to make necessary alterations to their home. They want to ensure a safe and comfortable environment for their precious daughter, including wet rooms, ramps, and other necessary modifications.
Florence’s story is a reminder of the strength and love that families possess in the face of unimaginable challenges. If you would like to support Florence and her family, you can get in touch with them at webnews@metro.co.uk.
