Kai's story: One of the first patients to be treated at the Zayed Centre for Research

Our brand new medical facility, the Zayed Centre for Research into Rare Disease in Children, brings together pioneering research and clinical care under one roof to drive forward new treatments and cures for seriously ill children, both across the UK and internationally. One of the first patients to be treated at the Centre is Kai, aged 10. 

Kai has a rare cardiac condition, and experienced multiple cardiac arrests before receiving a donor heart earlier in 2019. Here his mum, Kelly, shares their story and how they are getting involved in genetic research: 

Diagnosing Kai’s cardiac condition 

Kai started having trouble with his health just before his third birthday when he started to become breathless. It was initially thought that he had asthma, but six weeks later he collapsed at home following the first of what would be many cardiac arrests. 

After being rushed to hospital, Kai was diagnosed with hypertrophic cardiomyopathy (HCM) – a genetic condition where the muscle wall of the heart becomes thickened. “I was shocked,” says Kelly, Kai’s mum. “I couldn’t believe that was what it was because he was the first in our family to have it, even though it was hereditary.” 

He was transferred to Great Ormond Street Hospital (GOSH) to receive specialist care. While at GOSH he had surgery to put a pacemaker and an Implantable Cardioverter Defibrillator (ICD) under his skin. The ICD is a small device that sends electrical pulses to regulate abnormal heart rhythms, specifically those that can be dangerous and causes cardiac arrest. “The only thing that could be done for Kai was to have the ICD put in, because part of his condition is that his heart would go into abnormal rhythm by itself,” says Kelly. “Only a very small number of patients with Kai’s condition go on to have a heart transplant, so it wasn’t something we were facing at that point.” 

Joining his friends in the playground

After his first visit to GOSH, Kai and his family were able to return home. However, Kai’s condition was affecting his day-to-day life and despite further surgery to try and improve the ICD’s ability to detect abnormal heart rhythm, Kai continued to have cardiac arrests. 

When he was nine years old, it was decided that he should be put onto the transplant list. 

Eventually, a suitable donor heart became available and Kai had a heart transplant in the Spring. “Finding out was so emotional,” says Kelly. “There were a lot of tears and Kai was over the moon, although very scared. However, he had a good recovery following the transplant. At first, he needed an external pacemaker to support his new heart, and on day five or six post-transplant, the new heart began working properly.” 

Although his recovery continues, Kai can now run and play with his friends in the school playground. Kelly says: “Kai is now doing really well. He still has some difficulty as he gets out of breath and suffers from leg pain, but he can now run and play with his friends. It’s great because before when he was at school, he couldn’t go outside. Now he goes out into the playground which he loves – he can be with his peers rather than watch them, it’s so nice. He’s now in Year Six and has become a school councillor!” 

Patient looking at Kind's of Life art installation

Getting involved in research to learn more about heart conditions

Kai continues to come to appointments at GOSH in the new Zayed Centre for Research into Rare Disease in Children. He is also taking part in a research project led by Dr Kaski, Consultant Paediatric Cardiologist at GOSH, which is aiming to discover new biological markers of inherited heart conditions. 

Kelly says: “Research is so important. Without research, Kai definitely wouldn’t be here. It has led to the Implantable Cardioverter Defibrillator and pacemakers being developed, and there are so many cardiac patients like Kai that need these and it’s what keeps them going. Without research, how would they have been able to match a heart to Kai, or do the genetic testing that he needed? It’s amazing. 

“Kai’s condition is caused by his genes, and we don’t know how it’s going to affect him down the line, even with his new heart. Research could mean that tests could predict whether in 10 or 15 years, a patient might need a transplant, and that would really help you prepare for the future.” 

Researchers already know that inherited heart conditions like hypertropic cardiomyopathy are caused by changes in specific genes. However, less is known about why inherited heart conditions can affect people in different ways. By studying samples from children who have heart conditions or from children who are at high risk of developing them, researchers hope to find better ways to diagnose patients and to predict how the disease will develop over time. This vital work could also help develop new treatments that are specifically targeted to individual patients based on their specific condition and how it is developing. 

This research, which has been supported by the NIHR GOSH Biomedical Research Centre and GOSH Children's Charity (via Max's Foundation), could make a huge difference to families. 

Learn more about the Zayed Centre for Research into Rare Disease in Children