Toddler’s condition is so rare only one other person in UK has it

A toddler in the UK has been diagnosed with a rare condition so uncommon that only one other person in the country shares it. Three-year-old Dua Ahmad was diagnosed with Spastic Paraplegia 50 (SP50), a genetic disease that causes paralysis starting from the toes and progressing to the brain. Without treatment, she faces the possibility of being quadriplegic by the age of 20. Dua’s mother, Nadia, has discovered a medical trial in America for a drug called Elpida that uses gene therapy to potentially halt the worsening symptoms in the toddler. However, the trial comes with a hefty price tag of £250,000, a sum Nadia must raise on her own.

Nadia expressed her feelings of helplessness as a parent, willing to go to any length to improve her child’s health. The urgency lies in providing treatment as early as possible for maximum effectiveness. Dua’s symptoms were noticed when she was just a few weeks old, showing lethargy and lack of response to stimuli. After multiple doctor visits and a private MRI scan, she was diagnosed with SP50 by a genetics team. Nadia described her devastation upon hearing the rare diagnosis, with only two children in the UK and fewer than 100 cases worldwide known to have the condition.

Dua, who is non-verbal, has shown progress in her development with therapy sessions including physiotherapy, hydrotherapy, and horse riding therapy. Despite her challenges, she has recently started crawling at the age of three. If not selected for the medical trial, the family plans to purchase the medication once it gains approval, still requiring the significant £250,000 investment. A GoFundMe page has been set up by Nadia to raise funds for Dua’s treatment, given the trial’s private funding nature.

Nadia highlighted the critical need for both Dua and the financial resources to facilitate her treatment within a race against time. The family’s determination to provide Dua with the best chance at a better future drives their efforts in navigating the complexities of her rare condition and the associated costs.