The parents of a young Maple Ridge boy living with spinal muscular atrophy are ecstatic after hearing the province will cover the costs of a new medication that treats the disease.
Rolf Schwuchow and his wife Petra Fellinger, though, are more happy for others who will benefit from government funding of the drug risdiplam, also called Evrysdi – just like their son Nicolas benefited from the drug Spinraza, another government funded drug, but only for those who qualify.
Nicolas, now 9, was diagnosed with spinal muscular atrophy type 1, a rare, neuromuscular disease when he was only an infant.
According to the Ministry of Health, the disease affects spinal cord nerve cells and impacts the muscles used for breathing, eating, crawling and walking. People living with the disease are not able to make a specific kind of protein and without it, the cells that control muscles die.
Symptoms can first appear before birth, while others start in the first year of life. The most common include progressive muscle weakness and poor muscle tone and control, which impair motor development and mobility.
Patients, the ministry said, may never walk or may gradually lose the ability to walk, sit or move.
It is an inherited condition and a leading genetic cause of death in infants and toddlers.
When Nicolas was diagnosed, there were no drugs on the market and doctors told his parents that there was nothing they could do. Spinraza, at that time, was not approved for use by Health Canada.
Fellinger described hearing those words as devastating.
“Unlike anything else that Rolf and I have ever experienced,” she said.
Nicolas first started on Spinraza in January, 2017. And, his parents say, it has helped him immensely.
Mostly he has benefited in increased endurance and strength, said Schwuchow. He is able to write and draw because his hands have become stronger.
Even his cough ability to cough is more effective when he becomes sick.
In November Nicolas had rods put in his back to help his scoliosis, and three months later he is already playing power soccer in his power wheelchair, said his father.
Or, all of a sudden, he will start doing something that he lost the ability to do, added Fellinger.
Schwuchow and Fellinger will consult with Nicolas’ neurologist to see whether switching to risdiplam would be beneficial for their son or not. One benefit might be how each drug is taken. Spinraza is injected directly into the spine, like an epidural, while risdiplam is taken orally. A change in medication would mean Nicolas would not have to go to BC Children’s Hospital every four months for treatment.
READ MORE: Nicolas Nations working for tot
“At this point we’re unsure if that’s a good choice or not, just because Spinraza has been working really well for him,” said his mom.
However, for others living with the disease, this will be a game changer, they said.
Especially since the cost of the drug at list price can range from $93,456 to $354,000, depending on the age and weight of the patient.
Comparable to the cost of Spinraza, noted Schwuchow. In the first year of his diagnosis, Nicolas had to have six injections of Spinraza, a list price of around $750,000, he explained.
If risdiplam is going to have the same effect as Spinraza on his son, then it will not only be a game changer, but a life changer for other families, he said.
ALSO: Maple Ridge’s Nicolas is an SMA success story
“Nicolas is an amazing, amazing boy. Super intelligent,” said Schwuchow, adding how competitive, funny, and musically inclined he is.
“He’s just an incredible kid,” he said.
Nicolas is a really good person that is living his best life because of a drug that they had access to.
“If that’s any sort of future for another kid then that’s what really makes us happy,” Schwuchow added.
It is estimated that there are 23 pediatric patients and 10 adults eligible for risdiplam across the province.
To follow Nicolas’ journey go to A Boy Named Nicolas on Facebook.
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