The McLeod family - Lani and Jim with Harlan, Thea and Lincoln. Photo / Supplied
When Lani McLeod found out her toddler would never walk, she was gutted.
But when she learnt that her newborn baby might be helped by a "miracle" drug, McLeod and her family began to consider a move across the ditch.
In early June, when McLeod was 35 weeks' pregnant, she and her husband Jim were shocked to discover their son Lincoln, aged 23 months, was diagnosed with a rare genetic condition called Spinal Muscular Atrophy (SMA) Type 2.
Five days after her second son Harlan was born on June 24, tests revealed he also has the disorder, which affects 35 Kiwi children under 18 years of age.
SMA, which affects the control of voluntary muscle movement, is caused by loss of motor neurons. If untreated, it is expected to make sufferers weaker over time, before causing an early death.
The condition can be treated with Nusinerson (Spinraza), a drug that's not available in New Zealand. It isn't a cure but has been proven to slow or stop the effects of the disease.
In severe cases, the treatment can extend a child's life by years.
Last week McLeod, 28, was devastated when both of her sons were declined life-saving treatment through a compassionate early-access programme offered by Biogen, an American drug company.
"Harlan is 7 weeks old and has no symptoms but falls short of the criteria because he is Type 2," McLeod said.
"For him, it would mean he has a higher chance of walking. We are so frustrated we were declined treatment; we are now contemplating moving to Brisbane even with the risk of Covid. The longer Pharmac takes to make a decision to fund the drug the more risk it is for my boys. We are upset our children's lives are in their hands."
The primary school teacher and her husband Jim, a butcher, were oblivious they were carriers of the gene.
One in 40 people are carriers of SMA, but they do not have symptoms or show any signs of muscle weakness. The risk of having an affected child is greater if their partner is also a carrier.
Dr Gina O'Grady, a paediatric neurologist, told the Herald that if carriers were worried they were at risk of having a child affected by SMA, they should contact the publicly funded Genetic Health Service about options. But she said it was possible for carrier parents to have a child unaffected by SMA.
There are three common types of SMA.
Infants with Type 1 look normal at birth but will lose strength in their arms and legs. They cannot hold up their head, roll over or sit. Feeding becomes difficult and, without treatment, most won't live beyond two years of age because of breathing and swallowing difficulties.
Type 2 children will learn to sit but never achieve the ability to walk. They are usually bright children who will depend on wheelchairs. They will have joint deformities, spinal curvature and breathing weakness but a normal life expectancy.
People affected by Type 3 learn to walk, but increasing muscle weakness causes difficulty.
Luckily the gene bypassed the McLeods' 4–year-old daughter Thea, who is "happy, healthy and full of beans".
"We would never say 'no' to having our boys. If we had known we were carriers we would have gone down the IVF testing path to be certain. But we wouldn't have done anything differently. Even if I had found out we were carriers of SMA during the pregnancy we would've continued on. Lincoln won't walk but he is a pretty cool kid so it would've felt wrong thinking this baby doesn't have a chance. But if Harlan could get funded treatment now there is a likelihood he could still walk," McLeod said.
Lincoln McLeod is nearly 2 and loves animals, reading and painting.
His mother says he has a "cheeky smile and gives off a cheeky vibe".
"He is very clever. I think he has overcompensated by learning and talking - there is nothing wrong with his brain. With Lincoln, you are having a conversation with a 2-year-old."
Two weeks before Harlan was born, Lincoln was also diagnosed with SMA Type 2.
At 10 months old Lincoln hadn't made any progress with his gross motor development.
He was dragging himself and "commando" crawling - unable to get up or sit up straight.
An MRI scan showed nothing wrong but a blood test for genetic disorders came back positive.
Dr O'Grady said the key is to do pre-symptomatic newborn screening to prevent the loss of motor nerves.
"In a clinical trial, 10 children under 6 weeks old with Type 2 SMA were treated with Spinraza - at 2 years of age none of them had any clinical manifestation."
Fiona Tolich, an SMA sufferer and advocate for Patient Voice Aotearoa, said Pharmac discriminated against rare disorders and was handing kids a "death sentence". She believes it's wrong that the government has no qualms about dishing out $72 million to the horse racing industry but won't fund $6m for medication for children with rare disorders.
"I have been diagnosed with this and I have the strength to do something about it. In the two years we have been fighting for this drug, kids have had feeding tubes inserted because they have lost the ability to eat or swallow, they can't put a potato chip in their mouth because it's suddenly too heavy and they can't roll over.
"Some kids are starving themselves at school and not drinking water because they are embarrassed to ask for help in the bathroom. I've seen this drug work - it is a game-changer - it makes both economic and compassionate sense to have it. I don't think I could sleep at night if I wasn't fighting for this."
In February, Biogen submitted a revised funding application that was advanced to Pharmac's expert clinical advice committee for consideration.
Pharmac then included the drug in its prioritisation process but it didn't have the budget to fund all drugs on its priority list. It has approved the funding of 14 new medicines for a rare type of cystic fibrosis and for relapsing-remitting multiple sclerosis.
In a case that is something of a precursor to that of the McLeod family, New Zealander Gavin Old, an accountant, has two daughters with SMA - Ivy, 5, and Olive, 3. The family moved to Australia in 2018 to access Spinraza.
Ivy, who was born healthy, began falling behind with her milestones.
"The problem doubles with two girls with a disability – it's hard enough with one so it is very challenging," Old said.
He says Spinraza has had an incredible effect on his daughters.
"Miracle changes basically, it's been watching your children go backwards and losing the ability to do things. In terms of treatment, the kids have a lot more energy, more stamina, they sleep and eat better, they keep improving. Olive can walk up to a kilometre non-stop, she jumped for the first time - that was huge. Ivy is getting stronger but she got treatment late which means slower progress. She can walk from the table to the couch but needs a power chair," he said.
Old won't return to New Zealand until the drug is funded and the health system has changed.
"It's a ticking time bomb in terms of healthcare in New Zealand. Pharmac says it has a fixed budget and the Health Minister says 'we stay out of their decisions'. Stop hiding behind a fixed budget, fight for the children who don't have a choice with SMA. There is no accountability."
Pharmac's operations director Lisa Williams said: "Possible opportunities for investment in new medicines will always exceed the budget Pharmac has available; therefore, comparative ranking is an intrinsic part of Pharmac's work. Every medicine that is recommended for funding by our advisors is compared and ranked against all other medicine funding options, and no one group of medicines is given priority over others. We assess all funding applications against our factors for consideration to ensure every application is treated fairly.
"While we recognise the challenges faced by patients and their whānau, and their understandable desire to try new treatments, our job is to look at all the evidence and make a decision that is in the interest of all New Zealanders."
Pharmac wouldn't comment on how much Spinraza costs, citing commercial sensitivities, but said: "Both the cost and patient numbers don't align with our analysis."
The McLeod family are leaving the family farm and moving into town to accommodate both their sons' needs.
"It's not like we can hop into a car and go somewhere. We have to do extra planning and figure out where there is wheelchair access, like car parks, supermarkets and malls. We will need to get a hoist and make additions to our house, like a shower and walking ramps. The van we are raising money for has to be big enough to store two wheelchairs and not be too high for our garage."
Lani McLeod has a final plea to Pharmac.
"Please make treatment available so it can make a difference to our kids. Lincoln is starting to get more frustrated with life and gets stroppy asking for help to get from A to B. Harlan is fine now but the danger is as he gets older the chances of him not walking without treatment grow. We will move to Australia - it's a big call, especially with Covid, but we would do anything for our children."
• August is Spinal Muscular Atrophy month worldwide
• To donate to the McLeods' sons, visit their Givealittle page at https://givealittle.co.nz/cause/mcleods-sons
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