Arthur’s story

This is two-and-a-half-year-old Arthur. He has the incredibly rare Williams Syndrome, a developmental disorder that affects many parts of the body. Williams Syndrome also affects the cardiovascular system and can cause issues for the heart and blood vessels.

Arthur was born in November 2020, after a normal pregnancy apart from in mum Alice’s 20-week scan the team did mention that baby Arthur had a tiny head and very long femurs. These characteristics are an indicator of Williams Syndrome, but it wasn’t diagnosed until William was six months old.

After a crash c-section, mum Alice had reduced movement and went to the Princess of Wales Hospital for monitoring, within 28 minutes of arriving Arthur was born as she had little water and a very thin umbilical cord.

Mum Alice said: “Over the next few weeks, Arthur struggled with feeding and would often scream for up to 20 hours a day. It was so traumatic; it was our first baby, but we knew that something wasn’t right. He wasn’t hitting developmental milestones.”

A potential murmur had been spotted at birth and during an appointment with a Cardiac specialist at the Royal Glamorgan Hospital. Arthur was referred to the Noah’s Ark Children’s Hospital for Wales where he was diagnosed with Pulmonary and Aortic Stenosis, a type of heart valve disease that involves the narrowing of the pulmonary valve, which controls the flow of blood from the heart’s right ventricle into the pulmonary artery to carry blood to the lungs.

Due to Arthur’s complex issues when scanning Arthur, the team suggested genetic testing as he has blue eyes with starbursts in them when neither of his parents had blue eyes which is a common sign of Williams Syndrome. Two weeks later the tests confirmed that Arthur had Williams Syndrome at six months old. Parents Alice and Matt were relieved by the diagnosis so that Arthur would now be able to access support to work towards hitting his milestones.

Another of Arthur’s conditions is hypercalcemia, a condition in which the calcium level in your blood is above normal. Too much calcium in your blood can weaken your bones, create kidney stones, and interfere with how your heart and brain work. As a result of this Arthur is closely monitored by the Renal team here at the Noah’s Ark Children’s Hospital.

Arthur is now thriving with support from a multi-disciplinary team here at Noah’s Ark and his incredible parents. Mum Alice said: “Arthur is using Makaton to communicate with us and is thriving now. He really is the cheekiest little boy with the best smile that lights up a room. One of the symptoms of Williams Syndrome is an excess of oxytocin and that could not be truer in Arthur, he is a huge hugger and kisser.”

Mum Alice is now the South Wales coordinator for the Williams Syndrome Foundation and is keen to spread awareness of the condition as well as support other families through diagnosis.