Drug company offers Spinraza to New Zealand Type 1 SMA sufferers

Anna Sutherland's "superhero" is to get his "superpowers".

Rotorua's almost 2-year-old Heath Sutherland has Type 1 Spinal Muscular Atrophy (SMA).

The result of a deficiency of protein called SMN, the condition affects a child's muscular development – the earlier the symptoms are noticed, the more the severe the type.

Heath, the youngest of three boys, was only 4 weeks old when his parents suspected something wasn't right. Heath has Type 1 SMA - the worst.

The Rotorua Daily Post spoke to Sutherland in September last year. She told us about 68 per cent of children with Type 1 SMA die before their second birthday and 82 per cent before their fourth.

She also told us about Spinraza, the only FDA-approved treatment for SMA sufferers that had produced incredible results in youngsters taking the drug overseas.

At the time Spinraza was not available in New Zealand and there were only two Spinraza trial sites in Australia. If the Sutherlands wanted Heath to have the drug, their only option would have been to take him to America and pay $750,000 for the first round of treatment.

Sutherland admits she had pleaded with Pharmac to fund the drug in New Zealand but was told it was cost prohibitive and the number of youngsters with SMA did not justify the spend.

But to Sutherland's delight Biogen, the company that makes Spinraza, has made a decision to provide the drug free of charge to Type1 SMA patients under the age of 18 through its extended access programme.

"Oh my lord," Sutherland said. "You have no idea, you can't imagine what this means to us, I can't even find the words."

After learning last month Spinraza had been put on Australia's Pharmaceutical Benefits Scheme for all SMA patients under the age of 18, Sutherland said she and her husband Jono had made the decision to wait until June/July to see if New Zealand would follow suit.

"We had also decided we would move to Australia to access Spinraza if it was not available in New Zealand.

"But before I was meant to know, I found out Biogen was going to make it happen. On May 1, at 11.52am I got a call at work telling me it was going ahead. That all Type 1s under the age of 18 would receive the drug and it was not going to be a trial."

Sutherland said she went outside and "bawled her eyes out" for 20 minutes.

"People were looking at me wondering what the hell was going on but I couldn't even talk."

After phoning "pretty much everyone involved in Heath's care" Sutherland was asked to keep the news to herself for a few days.

"I was almost bursting until a friend brought it to my attention after seeing a story in a New Zealand publication – since then I have told the world.

"I look at Heath and I burst into tears, he's finally getting his chance."

Sutherland expects treatment to begin mid-year.

"I am currently dealing with surgeons as Heath has to undergo a double hip replacement. I'm now thinking differently about the operation – now he might actually walk one day."

Sutherland said Spinraza has had incredible results with SMA sufferers worldwide.

"It's magic. My superhero is getting his super-potion that will give him his superpowers.

"This really is his chance at life and I am so very grateful. Especially to Biogen, our group of specialists who have played a huge part in gaining access to the treatment, and to everyone else who has contributed in any way to helping make this happen."

The only downside for Sutherland is knowing how many Type 2 and 3 SMA patients, who would also benefit from Spinraza, would be missing out.

"If you look at a Type 1 and a Type 2 side-by-side in wheelchairs they look the same. It is desperately important we keep pushing and fighting and nagging for them. SMA is SMA, regardless of the 1, 2 or 3 accompanying it.

"All SMA patients will eventually deteriorate to the same condition and this is why we need to stop putting them in categories and acknowledge they all urgently need and deserve access to the treatment."

When Heath has his first treatment in Auckland family and friends will all be travelling with him dressed as superheroes.

"We're planning to do some fundraising in Rotorua so we can take gifts to children at Starship [children's] hospital – a place we are very familiar with.

"We want treatment day to be a celebration for all rather than just for us."

Sutherland said she would not have been able to get to the point she had without the support of peers in the SMA reference group she is part of through the Muscular Dystrophy Association.

"From support through to funding through to helping us gain the knowledge we need to manage our kids' health that little bit better – members of the reference group have been there."

Next month Sutherland and another member will travel to America to attend the world's largest SMA conference. "We want to learn all we can and bring the information back to share and use it to create new diagnosis packs."