Six-year-old Bella was diagnosed with Vanishing White Matter Disease, a rare genetic disorder which has a life expectancy of between two and 10 years. Her mother, Natalie, tells Bella’s story.
“Bella is such a happy, outgoing little girl, who lights up every room and doesn’t let anything get her down. Despite her disabilities she’s such a brave and strong person. She is also a bit of a diva, a bit of a princess! She is into pink and unicorns, and everything colourful and glittery.
“I first knew something wasn’t right with Bella when she was two and a half; before then, everything was normal. She woke up one day with a slight temperature and a cough. When I put her on the floor her legs gave way, she seemed unsteady when walking and she swayed when she stood still. After two visits to the GP and a CT scan in A&E I was told there were changes to the white matter in her brain – the nerve packed area that controls our body. Doctors thought it was an infection in her brain and prescribed Bella antibiotics, but they also needed her to have an MRI scan.
“Bella’s MRI scan showed that she had a form of leukodystrophy, conditions that affect the brain, spinal cord and nerves, and possibly only had six months to live. Leukodystrophy is so rare, not even the doctor seemed to know what it was. What followed was a lot of tests, including an invasive spinal test and genetic blood testing, to decipher which of the around 40 types of leukodystrophy Bella had. After six months waiting for results, it was confirmed that Bella had Vanishing White Matter Disease which has an estimated life expectancy between two and ten years after diagnosis. I wouldn’t say it was good news, but it gives me more time with her.
“As a parent, you think why – Why her? Why me?"
It was so hard to go from having a healthy child to this happening - it was such a shock. I really struggled. There was an intense feeling of being alone. You’re told that your daughter is dying, and that’s it. Bella has already lost the ability to walk and uses an electric wheelchair. She can’t move her left arm, which she calls her ‘sleepy arm’, and her right arm is also weak. She will lose her sight, her speech, and then eventually it will be her ability to breath independently.
“I strictly monitor her health, controlling her temperature with medication; a simple cold could send her into a coma. Any trauma to her head could also destroy the remaining white matter in her brain and seizures, which can develop in the later stage of the disease, can be quite damaging too. Bella’s body frequently spasms, as her tendons and ligaments get tight, causing her horrendous pain. Medication helps to limit the number of spasms, relax her body and avoid her catching any infections, but knowing she’s in pain and I can’t do anything is heart-breaking. Thankfully, she hasn’t had to go to hospital for a while, but the future holds uncertainty.
“She has recently started at a specialist school, which she absolutely loves! They have a frame in which she can stand up and she gets to go swimming every week. She is making friends and has them come over to play. Bella turned six in May. As she loves bubbles, I arranged for a bubble party where a lady came with some massive bubbles and did a bubble show. She even put Bella inside a bubble! It was amazing. We have been to Disneyland as well. Even though we couldn’t go on a lot of the rides, it was worth it to see her face when she met the princesses.
“Bella says to me “when I grow up, I’ll be as tall as you” and “I want to be a doctor” – it’s heart-breaking. As she gets older, she is becoming more aware that she’s not the same as other children. But how do you tell her that she’s not going have the chance to grow up?
My hopes for Bella are for her to have a normal childhood and experience things as a normal child would. I know that it is not possible to protect her from everything. I can’t wrap her up in bubble wrap and not let her do anything. I just want her to live the best life she possibly can.
“Rare diseases, such as Vanishing White Matter Disease, often seem to get overlooked. I believe every child deserves a chance to survive. Even a small amount of money is something that could give that little step forward for the research and the awareness of the disease.
“Research is so important. I would love for the answers to be here now, but I’ve had to come to terms with knowing they probably won’t be in Bella’s lifetime. Research needs to start as quickly as possible. I don’t want other families to go through what we have gone through.
“I would say to anyone thinking about giving to Sparks either as a donation or taking on a challenge event, that you’ve just got to think, what if it was your child? Doing anything on any scale would help so much."
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