Four-year-old raises over £300 to say thank you for care for rare bone condition

To say thank you for her care at Sheffield Children’s four-year-old Willow, from Wakefield, took part in The Children’s Hospital Charity’s Pyjama Day.

When Willow was just four months old she received her initial diagnosis of X-linked hypophosphatemia (XLH) rickets. XLH is an inherited disorder resulting in low levels of phosphate in the blood. Features of XLH often include bowed or bent legs, bone pain, dental pain and short stature. The disorder is rare, affecting only 1 in 20,000 people.

Willow receives care under the metabolic bone team at Sheffield Children’s, where her consultant, Dr Arundel, has helped to manage her condition. Until Willow was 18 months old, she was on medication that had to be taken several times each day, but since then her treatment has been managed through injections that she receives every two weeks.

Willow’s mum, Chantal, also has XLH and she was amazed at the difference the new injected drug, burosumab, made for Willow. Chantal said: “If you look at photos of Willow as a child and me as a child, you would have no idea that we have the same condition because Willow is doing so well. I can’t believe the difference it has made.”

When Willow was two and a half years old Dr Arundel asked if he could take a further look at her head as he noticed it had not grown enough for her age. It was then found that Willow had craniosynostosis, a secondary condition common in people with XLH, where some of the bones in a baby’s skull fuse too early, limiting the growth of the head.

Willow was referred to the neurosurgical team at Sheffield Children’s, who then referred her on to specialists in Oxford. On 3 August 2023 Willow underwent a full skull remodelling surgery to reduce the pressure that was being put on her brain by her skull.

Chantal said: “While Willow has received this care in Oxford, we put this down to the incredible team at Sheffield Children’s. If Dr Arundel hadn’t picked up on the problem, we don’t know what could have happened as the pressure on the skull could have caused lasting effects. The metabolic bone team are amazing, they’re so on the ball and they listen to everything I have to say.”

Willow is doing brilliantly now and is thriving in her first year at school. During Willow’s visits to Sheffield Children’s, she became a huge fan of The Children’s Hospital Charity’s mascot, Theo. On her first-ever visit to the hospital, Willow purchased her first Theo teddy bear, and the obsession began. She now has 15 of the bears and has met the full-size mascot more than once.

This love of Theo, combined with the incredible care she has received, made it an obvious choice for the family to fundraise for Sheffield Children’s. In 2023, they took part in Theo’s Pyjama Day wearing their favourite cosy clothes for a full day.

Mum Chantal got her full playgroup involved and afterwards Willow even insisted on walking around their local supermarket in Wakefield to gather more donations.

Chantal said: “Willow loves raising money for the poorly children. She doesn’t think of herself as one of them, but she loves to give back to them. I made a promise to her that if we beat our target for Pyjama Day I would take on an abseil for the Charity, so now that’s next on the list.”

Willow still returns to Sheffield Children’s for routine check-ups and she loves going to see everyone.

Theo’s Pyjama Day is back this year on 9 February. Supporters can help to change lives at Sheffield Children’s by raising vital funds and wearing their comfiest pyjamas, their softest slippers or their warmest onesies.

Chantel said: “If you’re thinking about doing Pyjama Day, please do it. You get to go to work in your pyjamas, and who doesn’t want to do that? You’ll also be helping to raise money for the poorly children, as Willow likes to say. The support and care Willow has received has just been amazing and it’s not just Willow that Sheffield Children’s supports. They support thousands of children every day and you can be a part of that.”

To sign up for Pyjama Day, click here.