Parents hope to raise awareness of daughter’s rare muscle-wasting condition

The parents of a young toddler living with a rare muscle-wasting disease have opened up about their experiences in a bid to raise awareness of the condition.

Katie O’Neill, who is just 17-months-old, has been diagnosed with ultra-rare spinal muscular atrophy (SMA) – a condition which her parents say has robbed her of a ‘normal’ life.

Young Katie, who has SMA Type 1 – a severe strain of the genetic disease – requires daily medication and attentive physiotherapy, as she is unable to move, sit up, roll over or walk.

She is also extremely sensitive to infection and her parents have to minimise contact with anybody from outside of their home.

But parents Eunan and Roisin, Northern Ireland, are hopeful that a new drug named Spinraza might work miracles for Katie in the near future, after trials of the treatment proved to be “a dream come true” for the young toddler.

Roisin said: “Katie started on Spinraza in December of last year, and we have already seen signs that she is gaining strength in her neck and arms.

“She can sit up a little bit more and we can finally nurse and hold her.

“She’s just stronger and her face is so much brighter. The drug has given us hope,” she added.

Spinraza was recently approved by the European Medicines Agency for SMA Types 1, 2 and 3.

Numerous charities, such as The SMA Trust and Muscular Dystrophy UK, are currently campaigning for the treatment to be made available to patients all across the UK on the NHS.

At EnViva Paediatric Care, our experienced staff can provide complex nurse-managed homecare for babies, children and young people with a range of disabling conditions. For more information about the services we provide, please contact us today.