When Leila Sturgeon received that phone call from the doctor’s office to come in, she went numb. She was asked to come in to discuss the results from a routine newborn screening test done on her then two-week-old baby, Ethan Ellwood. She hoped, perhaps irrationally, she later thought, the results from a simple pin prick on one of Ethan’s tiny feet would somehow pertain to her and not her seemingly healthy, newborn son.
Unfortunately it was about Ethan. He was diagnosed with cystic fibrosis (CF), a common but fatal genetic disease that has no cure.
“It was a total surprise,” Sturgeon said, describing the day she got the news from the doctor. “CF did cross my mind only because I looked it up and it’s one of the diseases they test from this heel prick. I had said something to my mother and she said, ‘don’t worry about it, it’s not in our family.’”
Ethan’s dad, Keith Ellwood also didn’t think the gene was in his family either.
“Absolute confusion,” Ellwood said, explaining his first reaction when Sturgeon called him after getting the news. “There was no history of cystic fibrosis in either of our families.”
CF is a genetic disorder that affects mostly the lungs but can also affect the pancreas, liver and intestine. CF sufferers are unable to digest and absorb nutrients from food and their lung fills up with thick mucous, making it difficult to breathe.
For a child to be born with CF, both parents must be carriers of the gene. Carriers do not have CF but there is a 25 per cent chance that carrier couples will have a child with CF. Carriers also have a 50 per cent chance of having a child that is a carrier and a 25 per cent chance that their child will be completely unaffected.
Both Sturgeon and Ellwood looked within their families to see who may have had CF. Neither were able to pinpoint a person with certainty, but Ellwood may have come close to at least one.
“I talked to my dad who is one of those family tree guys and I don’t remember which relative, but there was a great, great something, two or three generations ago that died at an early age with pneumonia or something,” Ellwood explained. “It hadn’t been considered that it may have been cystic fibrosis until now.”
“People died young back then,” Sturgeon added.
The average life expectancy for a child born with CF in Canada is now about 40 years, a huge jump from under five in the 1950s and 14 years in the 1980s.
An estimated one in 3,600 children born in Canada has CF, making it the most common fatal genetic disease affecting children and young adults.
The couple went to Victoria General Hospital the next day to meet with various doctors and experts to discuss Ethan’s care. Ethan currently takes almost a dozen pills, which will increase to 60 as he gets older, at various times in a day to ward off infections and help him digest food. Ethan also goes through three sessions of physiotherapy that lasts at least 30 minutes but can last up to 90 minutes depending on how cooperative he is.
The physiotherapy was tough to perform at first.
“It’s basically beating him on the chest in different areas of his lungs,” Sturgeon said, adding she was in shock when she first saw the physiotherapist perform the therapy on her newborn son. “Keith had to do it first because I couldn’t and it was uncomfortable. Ethan hates it but unfortunately it has to be done.”
The patting on different areas of the chest and then vibration is meant to loosen mucous buildup in the lungs and help Ethan cough up anything that may be in there.
Eventually, Ethan will have to perform this physiotherapy on himself.
Luckily for both parents and Ethan, Ethan has no problem sleeping and at least one physio session can be performed on him while he’s sleeping.
Researchers identified the CF gene in 1989 and in January 2012 the U.S. Food and Drug administration approved the first drug that fixes a genetic mutation in some CF sufferers.
However, treatment for one year is about $300,000 and this particular drug does not address Ethan’s version of CF. There are more than 1,500 different CF mutations, but Ethan has the most common one, delta F508.
“I’m just hoping that we will have a little pill for Ethan before he starts school,” Sturgeon added.
Last Sunday, about 30 of Sturgeon’s and Ellwood’s family, friends and co-workers attended the CF Great Strides Walk in Nanaimo under the Team Ethan banner, raising more than $5,300. Donations are still being accepted and can be made by going online to www.cysticfibrosis.ca/greatstrides and searching “Team Ethan” under team search and Nanaimo as the location.