Rare Disease Day: Jessica and Liam's Story

This Rare Disease Day, we are sharing the story of Killie-obsessed siblings, Jessica and Liam. We spoke to Mum, Claire, about her children’s diagnosis of Pontocerebellar Hypoplasia Type 1B, a rare degenerative neurological condition. Now 15 and 17, Jessica and Liam have both overcome a huge number of challenges, and the family are living every day to the fullest, creating lots of incredibly precious memories together.

Hospital Journey and Diagnosis

Soon after both siblings were born, Claire realised they weren’t hitting developmental milestones, and were struggling to lift their heads up, even at almost a year old. Liam also suffered from severe seizures as a baby, which he has thankfully since grown out of.

When Liam was 18 months, he had an MRI scan which showed that a part of his brain, his cerebellum, was smaller than it should be. His parents were told this could lead to a number of complications, and that their son would be unable to walk. Although aided by a walker, Liam has defied the odds and is still quite mobile, often seen at home games of his beloved Kilmarnock FC. Claire is determined to keep Liam as active as possible; to hopefully extend the amount of time he is able to walk, before his condition begins to deteriorate.

The family took part in Crosshouse Children’s Fund’s Halloween Sponsored Walk around Kilmarnock’s football ground Rugby Park in 2022, which they thoroughly enjoyed, and Liam has even met a few his footballing idols, including Rory McKenzie. Crosshouse Children’s Fund are delighted to have an incredible partnership with the club, and their support ensures that we are able to continue to care for and support families like Claire’s.

Jessica was around a year old when she too had an MRI, and the same shrinkage of the cerebellum was found. Unlike her big brother, Jessica is non-verbal, wheelchair bound and is fed through a PEG tube. She is now also on 24-hour oxygen and recently underwent total hip reconstruction surgery.

Jessica is in and out of the children’s ward at Crosshouse Hospital regularly, and both teens have frequent check-ups and outpatient appointments at Rainbow House. Rainbow House is also where the incredible supportive care team are based, who have been a wonderful support to Jessica and the rest of the family.

In 2019, both children were given the official diagnosis of Pontocerebellar Hypoplasia Type 1B, after it was discovered through genetic testing that their parents’ genes did not connect properly. For one child in a family to have Pontocerebellar Hypoplasia is rare, but for both children to have the condition, and in drastic differences of severity, is extremely unique.

Lessons and Advice for Parents

The biggest lesson Claire has learnt is that it is important to know that all children are not the same:

“All children's needs must be met individually, and they need to be treated individually. It shouldn't be taken for granted that all children are able to do the same activities.”

Claire, Jessica and Liam's Mum

Through Claire’s time of running the Butterfly Club, a summer school for children and young people with special needs, she has learned there is such a wide range of needs and abilities.

“Even my two, they can’t do the same activities. You can’t read a story in the same way. Every child and every disability is different, and you must tailor to the individual child. It absolutely shouldn’t be taken for granted that every child can do everything, and I feel it’s really important that you need to alter what you do to match their needs.

It’s also difficult when you’re out and about, and you are with people who may not have the knowledge of a disability, and what that means for your child. It’s very hard, and we as a family are living every day as it comes. Most folk take everyday things for granted, which we can’t do.”

Finally, Claire has shared her best advice for parents of a child who has recently been diagnosed with a rare condition.

“Don’t panic. Make sure that you are there for your child, and can advocate for them. You are your child’s voice, and it is important to trust your instincts when caring for them."

Claire, Jessica and Liam's Mum

"It's also important to remember that you're not alone. Reach out for advice—there's always someone who has faced something similar and can offer support. I once felt like I was the only one in the world going through this, that no one understood me. But you are never truly alone. I’ve been in dark places because I kept everything to myself, but opening up to others has made all the difference."