A Wolverhampton mother has shared her determination to hold onto hope after her young son was diagnosed with an extremely rare and terminal illness. Six-year-old Partaap Singh began experiencing difficulties walking long distances, standing up from sitting, and climbing stairs, which prompted further medical investigations.
His mother, Gurbinder Kaur, a West Midlands Police inspector, explains that their concerns grew as Partaap frequently fell without apparent cause. Following several hospital visits and tests, their family received a heartbreaking diagnosis in January: Partaap has Juvenile Amyotrophic Lateral Sclerosis (ALS), also known as Motor Neuron Disease (MND).
This diagnosis stems from a rare gene variant, SPTLC2, associated with the condition – a mutation so uncommon that only around 40 to 50 children worldwide are known to be affected. The progression of the disease in Partaap’s case is uncertain, leaving the family with no clear idea of how much time he might have.
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ALS is a progressive condition that destroys motor neurons in the brain and spinal cord, gradually stripping away an individual’s ability to walk, move, speak, swallow, and eventually breathe. While adult cases often arise after age 50, with life expectancy usually two to five years, juvenile cases are extremely rare and not well understood, with no clinical trials currently available for Partaap’s specific gene variant.
Despite these challenges, Partaap remains fiercely independent, continuing to insist on walking where he can and engaging in games such as football and tag with his brother, even as he struggles with balance, strength, and frequent falls.
Refusing to accept the prognosis that emphasises only palliative care, Gurbinder and her family are exploring experimental treatments. They are focusing on clinical research into antisense oligonucleotides (ASOs), a promising therapeutic approach for rare genetic diseases. ASOs can reduce harmful proteins or ‘switch off’ faulty gene messages.
In Partaap’s case, the SPTLC2 gene variant leads to overproduction of sphingolipids, which appears to drive his disease. No ASO treatment has ever been attempted for this gene mutation, but the family is assembling a team to develop a tailored ASO that could potentially slow or halt the progression of the illness.
They are collaborating with Jeff Milton, a scientist and biotechnology entrepreneur with a career focused on making precision medicines accessible for rare neurodegenerative conditions. He is assisting the family in building an expert team dedicated to Partaap’s case.
However, time is critical, with the family highlighting the urgency due to the risk of irreversible loss of Partaap’s abilities. The development of such a bespoke ASO treatment is costly, with an estimated fundraising target of £1 million to cover design, development, and delivery-a process never undertaken before for this particular gene.
Additionally, ASOs require repeated administrations every few months, presenting ongoing financial challenges alongside the expenses of specialised therapies, equipment, home adaptations, and travel necessary for Partaap’s care.
Gurbinder expressed her family’s resolve and appeal for support: “We are giving everything we have, but we cannot do this alone. Every donation, every share, every bit of support means the world to us. Time is absolutely critical. Please help us fight for our son’s life, and help us turn his story into one of hope, courage and possibility.”
To assist their efforts, a GoFundMe page has been established to raise the necessary funds to explore this pioneering treatment for Partaap.