Story

For Leo, We Stomp.

Our beautiful son Leo was born on the 4th January 2024 at the RVI Newcastle. He was born with a very rare form of mitochondrial disease, known in abbreviated terms as LBSL. We received this diagnosis in the very early days of his life, when doctors sought to explain an unusually high lactate score on a routine blood test. His subsequent diagnosis left us feeling extremely sad and confused, not least because Leo appeared to be a healthy newborn baby. Since then, Leo has shown little progress in terms of his development and his medical needs have become increasingly complex.

LBSL stands for Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation. It is a rare genetic disorder that is caused by mutations in the DARS2 gene, leading to impaired mitochondrial function and the accumulation of lactate in the brain. In most cases, LBSL manifests with progressive neurological symptoms, including cognitive decline, and movement difficulties. Treatment primarily focuses on managing symptoms and providing supportive care to improve the affected individual’s quality of life. Leo has a great team around him to provide this supportive care, including consultants within Newcastle’s Highly Specialised NHS Service for Rare Mitochondrial Disorders, respiratory specialists, the CHIPS palliative care team, SALT, occupational therapists, and physiotherapy - to name but a few. Recently, he has also been fitted with a feeding device so he can receive the nutrition he needs through a tube. This is our new ‘normal’.

We are nervous for Leo’s future and the potentially devastating effects of this disease – a disease for which there are no treatments or cures.

We draw strength from the wonderful support of our family and friends and from Leo himself, who brings his own unique brand of happiness and joy. Raising awareness and money for “Mito” charities has also become an important way for us to connect with others and we hope to make an important contribution to the work of The Noah Jordan Foundation over the coming months and years.

Leo is a special little boy, who loves bath time and spending time reading stories and listening to songs. He responds well to sensory experiences involving sounds and smells, so we try to get him out for walks in nature and by the sea. Leo relies on these senses due to a severe visual impairment, but this doesn’t stop us working on his sight, with light up toys and time in an orange therapy tent. We are delighted that Leo has lots of tickly spots, so we get to hear him laugh often, and he finds sneezing a very funny thing! Leo has brought a lot of magic to the world, by bringing out the best in us and the people around us. Thank you Leo, for making us stronger, kinder, and ever more determined to make your life a happy one.

Thank you for your support.

Laura & Kev x