Alex and Daniel's story | Action Medical Research

Alex and Daniel's story

Smith-Lemli-Opitz syndrome (SLOS)

Daniel experienced similar problems to his older brother Alex: vomiting frequently, constipation, hardly sleeping or growing for the first six months of his life.

Daniel was also born with a hole in his heart. At just one day old he had his first surgery. Further heart surgery followed when he was only three months’ old, and again when he was two. Alex was born with scoliosis (curvature of the spine), for which he has had major corrective surgery.

Neither Daniel nor Alex reached the expected milestones for their age: crawling, walking, gaining more independence, starting to speak, potty training. Doctors were, however, unable to pinpoint the cause. In 2008, when Alex was three, mum Victoria took both boys to see a genetics consultant.

At last she was given some answers. Both boys were finally diagnosed with a rare metabolic condition known as Smith-Lemli-Opitz syndrome (SLOS). SLOS results from a failure of the body to make its own cholesterol, which is needed to support normal growth and development.

“Together the boys had enough problems related to SLOS to get the correct diagnosis. It's been such a struggle, particularly during the boys early years; not knowing why my babies were suffering from all these issues,” says Victoria.

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 to one side), learning disabilities and life-threatening heart defects, amongst many other symptoms. There is no cure and no proven effective treatment.

"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,” Victoria says.

Have you been affected by Smith-Lemli-Opitz syndrome (SLOS)?

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