Penn Hall's Isla-Mai begins pioneering clinical trial
Many of our Penn Hall families will know Isla-Mai; her strength, bright smile, and unwavering determination brighten our school every day. This week marks an incredible and historic milestone not just for Isla-Mai and her family, but for the global PMM2-CDG community.
Isla-Mai is now participating in a groundbreaking global clinical trial for Congenital Disorders of Glycosylation (CDG) PMM2. PMM2-CDG is a rare, severe genetic disorder that affects multiple organ systems, stemming from the body's inability to properly produce the essential molecules needed for protein function. The investigational treatment Isla-Mai is receiving is a replacement therapy designed to bypass this genetic block and restore that crucial protein function.
The significance of this step cannot be overstated: she is one of only 50 people in the world involved, and, critically, the very first patient to begin this pioneering treatment at Birmingham Children’s Hospital.
A commitment filled with hope
When Isla was first diagnosed, her family was told there were no treatment options available. Eight years on, this trial offers a profound possibility: to not only slow the debilitating effects of the condition but also to potentially bring about measurable improvement in her mobility and long-term health.
This commitment is immense, requiring weekly hospital visits for at least the next year. Isla-Mai's treatment days necessitate her missing school each Wednesday, a fact that makes her sad, as she loves Penn Hall so much.
However, her bravery shines through. Isla watches the doctors as they prepare for the infusion, taking bloods and inserting cannulas, all while keeping the doctors and nurses chatting about her favourite topic: Disney. She is currently on a waiting list for a small operation to have a port fitted, which will make future treatments easier and prevent the need for multiple weekly cannulas. During the long infusion hours, she is already using her time wisely by making Christmas decorations for the clinical research unit!
The family behind the superstar
The weekly treatments represent a huge dedication from the family. Isla-Mai’s mother, a nurse herself, has had to change her schedule to work exclusively night shifts to accommodate the treatment days, while her father Jack’s workplace has kindly allowed him a few Wednesdays off to be there for the start of the trial.
As her family notes, the journey is filled with nerves, as it is a trial, but also immense optimism that this step can change not only Isla’s future but that of others with this disease. This effort also helps raise crucial awareness for children's research, which is not commonly spoken about.
The entire Penn Hall community is keeping everything crossed and sending our unwavering love, support, and belief to this little superstar.
Well done, Isla-Mai! We are so immensely proud of your strength and perseverance.
