Mason's story Sotos syndrome low muscle tone - Jeans for Genes

Mason's story

Four-year-old Mason was born with a rare genetic condition called Sotos syndrome. This is characterised by excessive growth in childhood, low muscle tone and communication difficulties. Mason also has scoliosis of the spine.

Despite a seemingly normal pregnancy, Mason was whisked off to intensive care as soon as he was born. His blood sugar levels plummeted and he wouldn’t feed. He stayed in the neonatal intensive care unit for two weeks, sleeping most of the time while he was fed through a tube. Once home, his mum Ilana noticed that Mason had very poor head control and still struggled to stay awake for feeds.

‘I already had two sons, Joshua, 11, and Reece, 16, from a previous relationship, so I knew this wasn’t right. It had been such a worrying and stressful time. He was floppy and lethargic. By his six-week check the GP picked up on his poor muscle tone and referred him to a paediatrician for checks.

‘The paediatrician saw how floppy Mason was and said his back wasn’t right – which I had already noticed. He also noticed facial features: a high forehead, receding hairline and a long pointy chin. I didn’t notice a rapid growth at that point.’

When the test results finally came back, Ilana was told that Mason had Sotos syndrome. The family was devastated.

Sotos syndrome, also known as cerebral gigantism, is a rare genetic disorder caused by a deletion or mutation in the NSD1 gene on chromosome 5. In most cases it is not inherited. Mason is the only one affected in his family.

The disorder leads to rapid overgrowth in childhood, low muscle tone, delayed motor and cognitive skills and communication difficulties. Adults with Sotos syndrome do have a normal life expectancy though. The biggest challenge for Mason has been the scoliosis of the spine, which was putting pressure on his lungs. Last year he had a new surgical procedure to straighten his spine. Magnetic rods were inserted, a life-saving but enormously painful procedure.

Now four, Mason is the size of a 5–6-year-old child, due to the rapid growth. This growth should slow down as he gets older. He has poor muscle tone, which means he struggles with mobility, finds it difficult to balance and is still in nappies. He is unable to speak but communicates by using Makaton sign language. When he is well he goes to a mainstream nursery, with one-to-one support. At home Mason enjoys playing with his toy kitchen, his toys and he has recently been to the cinema for the first time.

‘I’m so proud of Mason. I’m most proud of how he has learnt Makaton, so we can communicate.’