UK family seeks £1m for experimental treatment for six-year-old Partaap

By Asia Samachar  | Britain |

A family in the United Kingdom is racing to raise £1 million for a potential experimental treatment for six-year-old Partaap Singh, who has been diagnosed with an ultra-rare form of motor neurone disease (MND).

According to a BBC report, Partaap, from Wolverhampton, is believed to be the youngest person in the UK living with an extremely rare variant of Juvenile ALS, or amyotrophic lateral sclerosis.

His mother, Gurbinder, told the BBC that the first signs emerged early last year when Partaap began struggling to walk long distances, stand up from sitting and climb stairs. He also started falling frequently for no obvious reason.

Following months of hospital visits and tests, genetic results in January confirmed the diagnosis.

“As parents, hearing this felt like the ground disappeared beneath us,” Gurbinder told the BBC.

The family said doctors informed them there was no cure or established treatment and advised them to focus on palliative care. However, they decided to explore experimental research options.

In a GoFundMe appeal titled “Race against time to save our 6 year old son, Partaap Singh”, the family said his condition is linked to a rare SPTLC2 gene variant, which they believe affects only about 40 to 50 children worldwide.

They are seeking about £1 million to fund the design, development and delivery of a bespoke antisense oligonucleotide, or ASO, treatment in the United States.

According to the family, an ASO for SPTLC2-related ALS has never previously been attempted. They said they are working with biotechnology entrepreneur Jeff Milton to assemble a team to explore whether such a therapy could slow or halt progression of the disease.

The BBC reported that ASOs are among approaches being researched for rare genetic conditions, while the MND Association said childhood MND is rare and can be linked to genetic changes.

Partaap now struggles to walk for more than a few minutes, climb stairs, balance and stand from a sitting position, his family said.

Despite his worsening mobility, they said he remains fiercely independent and still plays football and tag with his younger brother.

“Every month that passes, we risk losing more of our son’s abilities,” Gurbinder told the BBC. “He still smiles. And we refuse to give up.”

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