Hope of life-changing treatment for children with rare condition

Families affected by a rare genetic condition that can leave children unable to walk, and even breathe have been given hope of access to life-changing treatment.

Amy Cameron with son Zac. She said Spinraza had given the family hope for the future. Picture: contributed

Spinal muscular atrophy (SMA) is a devastating and sometimes fatal which affects an estimated 1,300 across the UK can cause irreversible loss of children’s ability to walk, crawl, swallow and breathe.

A life-changing treatment that can slow down the progress of the muscle wasting condition could be one of the first to be approved more widely on the NHS in Scotland from April through a new Scottish Government assessment approach which allows patients with rare diseases to get faster access to new ­medicines.

According to charities Muscular Dystrophy UK and Spinal Muscular Atrophy UK, Spinraza is set to be one of the first drugs to be approved and is expected to be routinely available for people with SMA Types 1, 2, and 3 from April. If approved, it could benefit up to 100 children in Scotland.

In May last year, the Scottish Medicines Consortium approved the treatment for use on the NHS in Scotland for SMA Type 1 – the most severe form of the condition – but not other types of SMA. The treatment is not currently available on the NHS elsewhere in the UK for any types of SMA.

Dr Sheonad MacFarlane’s daughter, Eilidh, 10, has SMA Type 2. Dr MacFarlane, from Glasgow, said: “Having access to Spinraza means so much to us and to other families and we are overjoyed that our hopes have finally been realised.

“It’s heart-breaking to see your child gradually lose their physical abilities.

“Nothing can prepare you for the devastating emotional impact this has on you, ­particularly when there is a treatment out there that is ­agonisingly out of reach.

“Now, however, we can look to a future where those living with SMA can have a better quality of life.”

Amy Cameron’s three-year-old son, Zac, has SMA Type 1 and has access to Spinraza on the NHS in Scotland.

Ms Cameron, from Alloa, Clackmannanshire, said: “Our whole life was thrown into a whirlwind the day we heard those three words – spinal muscular atrophy.

“But Spinraza has bought us valuable time with our little boy and given us hope for the future. Zac has achieved things we never thought possible and continues to amaze us every day.”

Muscular Dystrophy UK called for wider access to the treatment to be introduced across the UK, which it said is “lagging behind Scotland”.