Touching Lives - April 2014
Hope for children like Alex and Daniel
When Victoria’s second child Alex was born, she instinctively knew there was something wrong. His spine was curved and as a baby he barely slept, suffered feeding problems and was sick every few hours. His brother Daniel arrived 17 months later, needing surgery to repair a hole in his heart. He too then suffered similar problems to Alex. It was three years before the boys were diagnosed with Smith-Lemli-Opitz syndrome (SLOS), a rare metabolic disorder. This is the family’s story.
The early years of Alex and Daniel’s lives were very difficult. Daniel needed further surgery on his heart when he was just three months old and again when he was two. Both boys struggled with food, were often violently sick and failed to reach expected milestones for their age. Despite frequent visits to doctors, nobody could pinpoint what was wrong.
“It was a very distressing and worrying time, not knowing why my babies were suffering from all these issues,” remembers Victoria. She was desperate for answers so in 2008, when Alex was three, she took both boys to visit a genetics consultant. Together they had enough problems related to SLOS to finally get a diagnosis.
The condition is caused by the body failing to make its own cholesterol, which is needed to support normal growth and development. It affects at least one in every 60,000 newborn babies in the UK and is also believed to be the cause of a high number of miscarriages in Europe.
Babies born with SLOS have behavioural issues linked to autism, feeding difficulties, vomiting and constipation. The most severely affected have birth defects, such as cleft palates, small heads, scoliosis (abnormal curvature of the spine), learning disabilities and life-threatening heart defects. There is currently no cure and no proven effective treatment.
When Alex was five he had surgery to help correct his scoliosis. Metal rods were inserted either side of his spine. He also wears splints to support his ankles and so is unable to put on his own shoes.
Both boys have very poor appetites and have had periods of being fed through a tube, passed into the stomach via the nose. Neither reacts well to different food textures and both suffer from reflux. “If either of them doesn’t like something, they will make themselves sick. And they are often sick after a meal if they eat too much,” says Victoria.
Because of their autistic tendencies, routine and order are paramount. “They can get very distressed and frustrated,” says Victoria. “Things like getting dressed. If their clothes are not laid out in the same way or put on in the same order each time this can become a flashpoint for difficult behaviour.”
Now eight and seven, the brothers need lots of support and encouragement at school. They work a lot slower than other children and are easily distracted. At the moment they attend the same mainstream school as their older sister, Annabelle, but they are due to move to a special school later this year to better support their needs.
Children affected by SLOS also get very cold, very quickly. Both Alex and Daniel wear thermal vests and often thermal trousers too. “They can both go from being warm to
being very cold with little warning. Although their hands are usually very red, they can start to look very blue elsewhere, which can be alarming,” explains Victoria.
When Daniel gets cold he is likely to scream and cry, which can last up to two hours. “It can be so draining. I just have to leave the room sometimes,” says Victoria.
Victoria feels there is still a huge lack of awareness and understanding of SLOS. She has recently helped set up a support group and carries her own home-made leaflets with her, explaining what the condition is.
“Things have improved over the years for both my sons, but all the different symptoms – physical and behavioural – make life less than easy at times. If I can do something to help other children and families affected by SLOS, so they can avoid some of the pain and hassle we’ve been through, then I’m thrilled to be able to help,” she says.
Recent discoveries have suggested two drugs might help children like Alex and Daniel. Funded by Action Medical Research, Dr Emyr Lloyd-Evans of Cardiff University, is investigating these potential treatments further.
“We have recently discovered similarities between SLOS and another rare illness called Niemann-Pick C (NPC),” explains Dr Lloyd-Evans. “In NPC, cholesterol gets stuck inside a compartment within cells called the lysosome. We think that the same thing happens in SLOS, meaning therapies that work for children with NPC might also help children with SLOS. Treatment slows disease progression of NPC – if it could do the same for children with SLOS that would be a significant advance.”
Victoria is hugely grateful for Action’s support of research into SLOS. She says: “I was excited when I found out about the research into SLOS that is being funded by Action Medical Research. Having a child with an unknown condition that hardly anyone – including doctors – has heard of can be very lonely. Improving understanding of the condition, and so many other rare conditions, is so important and research is vital to this. And the development of new and effective treatments that could help my boys would be amazing.”
This research project has been supported by a generous donation from The Henry Smith Charity.