Maddi’s story

Maddi is fighting SPG15 disease, a rare life limiting condition with no cure

Maddi was the first person in the UK to be diagnosed with SPG15

Maddi's story

Watching Maddi gracefully skating on the ice, twirling and dancing filled me with happiness; her infectious smile reflected a carefree enjoyment of life. Devoted to ice skating, she aspired to dedicate many years to this passion, eagerly anticipating exams to enhance her skills.

Sadly, unforseen changes loomed ahead.  Little did anyone know that her skating journey would come to an abrupt halt. Maddi’s childhood showed no early signs of the dramatic shift that awaited her. A normal teenage girl relishing her youth, Maddi faced an unexpected turn of events, evoking profound sadness for her and our family.

Things began to change

At the age of 14, Maddi encountered a sudden shift in her health. Initially, a slight limp emerged, seemingly inconsequential. However, within a span of a few months, her condition deteriorated rapidly. Walking became arduous, marked by frequent stumbling and falls.

Perplexed by Maddi’s symptoms, we sought answers through consultations with neurologists at Great Ormond Street Hospital in London. An MRI scan uncovered anomalies within her brain, prompting further investigation into the underlying cause. Uncertainty loomed as medical professionals embarked on a thorough examination to unravel the mystery. Weeks of anxious anticipation ensued as Maddi underwent a series of DNA tests at the hospital, each test a step closer to understanding the root of her condition.

We had a diagnosis of an ultra rare disease

We received a diagnosis of an exceptionally rare disease, which plunged us into a whirlwind of uncertainty. Initially, doctors speculated that Maddi might be facing Krabbe Disease, a rare and potentially fatal condition. The shock of this revelation reverberated through us as we grappled with the possibility that Maddi could be the sole teenager in the country afflicted by this disease. The only glimmer of hope presented was a bone marrow transplant, yet even this was shrouded in uncertainty, as medical professionals hesitated to confirm the diagnosis.

Further testing ensued, each moment laden with anticipation and dread. Eventually, Maddi’s condition was identified as Spastic Paraplegia 15 (SPG15), a rare motor neuron disorder. SPG15, a neurodegenerative disease, threatened to impose severe disabilities, including spastic paraplegia affecting all limbs and early confinement to a wheelchair. The specter of Juvenile Parkinson’s loomed ominously, as the disease’s progression could impede brain function and induce degeneration in Maddi’s eyesight. The harsh reality set in: there was no cure for SPG15, and at any moment, Maddi’s life hung precariously in the balance.

“Her resilience is remarkable; she maintains that infectious smile even on the toughest days…

The rollercoaster of emotions began with the diagnosis of one fatal disease, only to be overturned two months later with news of another serious motor neurone type disease. Helplessness and devastation engulfed me, unable to shield Maddi from this cruel twist of fate. Yet, witnessing Maddi’s unwavering strength throughout this ordeal brings me solace. Her ability to navigate life with such grace despite facing a progressive disease serves as a poignant reminder of her incredible spirit.”

Maddi's current journey

At present, Maddi is putting in every effort to maintain her strength through rigorous physiotherapy sessions. However, the progression of the disease presents formidable challenges, making it increasingly difficult for her to persevere. She now finds herself at a stage where walking has become a daunting task.

Researchers hold hope for an experimental Gene Therapy as a potential cure for SPG15. Recent advancements in genetic therapies have demonstrated the capability to halt and, in some cases, reverse similar genetic diseases. Dedicated scientists are tirelessly working to translate this possibility into reality for SPG15 and other related conditions.