Parents of Northern Ireland toddler with rare muscle-wasting disease say new drug offers hope

The mother of a little girl who might not live beyond her second birthday has told how access to a new drug has given the family hope.

Katie O’Neill, from Magherafelt, Co Londonderry, is a bright, happy 17-month-old baby who just loves watching cartoons and being in the company of her big sister, Evie, four.

But an extremely rare neuromuscular condition called spinal muscular atrophy (SMA) type one has robbed her of a more ‘normal’ life.

The little girl needs daily physiotherapy and medication just to prevent her from catching so much as a straightforward head cold.

Roisin wants to raise awareness about SMA type one, but also to thank all those people — from family and friends to doctors, nurses and former Health Minister Michelle O’Neill — who helped secure access to a pioneering drug that the concerned mother said was already showing benefits.

Katie was born perfectly healthy on November 14, 2015, so it was a shattering blow to Roisin and husband Eunan when they were told their daughter was one of only four children across Northern Ireland to have the most severe strain of the genetic disease.

“When Katie was four months old, we started to get worried about her muscle tone”, Roisin explained.

“She seemed to be losing strength and, even though she was still very much a newborn, I noticed her legs in particular just didn’t seem right.

“The doctors put it down to some form of muscular dystrophy, but we didn’t know what.

“It took seven weeks to confirm the genetic testing, and it (the waiting) was just torture.

“We were living in hope that it wasn’t going to be as bad as we thought, but when Katie was eventually diagnosed with SMA type one, the most severe form of the condition, we were just gutted.”

By then, the little girl had lost all of her muscle strength, leaving her unable to move, hold her head up, sit up, roll over or walk.

She is now severely disabled, with complex mobility and respiratory needs that require round-the-clock care.

When Katie was diagnosed, her mum and dad were told there was no treatment and no cure.

“The prognosis was two years”, Roisin said. “It is just your worst nightmare. It (the SMA) came out of nowhere for us — it had never presented itself in either of our families.

“Katie looks so perfect and her mind is fine. She’s a very smart wee girl, but she is trapped inside a body that just doesn’t work.”

Like any youngster with a life-limiting condition, the little girl is extremely sensitive to infection, and the family have to minimise contact with anyone outside the home, meaning social occasions and even a simple shopping trip to the supermarket are no-go areas.

One particularly bad chest infection, at the age of eight months, left Katie spending a long time in intensive care with a collapsed lung and, when she finally returned home, her medical needs became even more pronounced.

“We nearly lost her at that stage”, Roisin recalled.

With mum and dad “preparing for the worst” in September last year, they were delighted to learn that drug company Biogen was widening access to a medication called Spinraza, following positive results in trials.

The news that her daughter would be granted access to the treatment was, said Roisin, “a dream come true”.

“Michelle O’Neill (former Sinn Fein Health Minister) and the neurology and respiratory teams at the Royal, they made it happen,” she explained. “We are so thankful.

“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.”

Charities including Muscular Dystrophy UK and The SMA Trust are among those campaigning for Spinraza to be provided to patients across the UK.

In the meantime, there is no certainty over how long access to the drug will continue and whether costs will be introduced.

“It’s all a bit unknown,” Roisin said. “We don’t know if or when we will need to start worrying about funding. We just hope Spinraza will never be withdrawn.

“The fact that it strengthens Katie up does give us some hope that there will be a possibility of extending her life.

“She’s our wee angel and has brought so much joy and love to our lives. It’s our two girls who keep us going.”

For now, the couple are taking each day as it comes. “We don’t know if Spinraza will work for Katie, but there is a chance it will,” Roisin stressed.

“When I see how brave she is and how much she has been through in her wee lifetime, it breaks my heart.

“We have good days and bad days, but we have to look ahead. We’re very thankful to all the people who have made this access possible. Our families have been so good. Our parents in particular have got us through the darkest times.”

÷ For more information about spinal muscular atrophy and to find out how you can help fund research into the genetic disease, visit the SMA Trust website at SMATrust.


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