Winnipeg girl 1st Manitoban to be diagnosed with rare genetic disorder
Only about 50 people worldwide have NGLY1, and only a handful in Canada
A Winnipeg family is coming to terms with what life will look like for their nearly two year-old daughter, Willow Howard, after discovering she has a rare condition known as N-glycanase deficiency, or "NGLY1."
"It's good to know, you kind of go a little bit numb and you just wait and listen for them to tell you what that means," said Anna Siedler, Willow's mom, about receiving the diagnosis.
NGLY1 is rare genetic condition, with only a few dozen cases worldwide. It happens when both copies of a person's NGLY1 gene contain mutations leading to a deficiency of an enzyme that helps the body remove malfunctioning proteins.
NGLY1 typically causes a movement disorder, liver disease, a lack of tear production as well as some developmental delays. Some physical attributes are also common, such as a small head size and small hands and feet.
It is a progressive condition with no cure and very little is known about how to treat the disorder because there are so few patients.
Unique genetic test performed about a dozen other times in Manitoba
Siedler said she knew early on that something wasn't quite right with her daughter. She had trouble feeding as a newborn and began missing developmental milestones like being able to roll over.
"She was really floppy, but also at the same time she'd always fling her arms out to the side, and our pediatrician said 'you know, your concerns are legitimate,'" said Siedler.
Currently Willow receives physical and speech therapies and is getting help with learning to eat solid foods. Siedler said not knowing what was wrong with Willow or how to properly help her was frustrating.
"You don't know but you start learning to stay off of Google and waiting for them to tell you what they think it is and what they are going to test for," she said.
After several other disorders were ruled out, Dr. Frosk asked the province to perform a special genetic test called an exome sequence, and Willow was finally diagnosed with NGLY1 last Wednesday.
"An exome sequence [is] where ... instead of doing it gene by gene, we look at every gene all at once," said Dr. Frosk.
Frosk said that when it comes to diagnosing a genetic condition this rare it's hard to know what to look for, so instead of testing for various conditions one by one, the exome sequencing allows doctors to view a patient's entire genome, as well as the genomes of both parents, to look for clues.
Frosk said he's only done about a dozen exome sequences for Manitobans and a few for patients in other provinces. The technology is relatively new and requires special permission from Manitoba Health because it is so expensive.
Families, doctors, look to other cases to determine treatments
Siedler hasn't yet met with Willow's other doctors to determine a treatment plan but said it will likely be based on what other doctors have tried in the past and what other families have found works. Because there are so few patients no widespread studies have been conducted.
Most of Siedler's knowledge about the disorder and what the potential treatments may be has come from research she's done on her own.
Siedler said she reached out to a group of other NGLY1 parents online, and has been in contact with people at NGLY1.org and the Grace Science Foundation. The two groups are dedicated to promoting research for the disorder, as well as networking patients and their families to see what treatments are working.
"You kind of become a champion for your child and learning things and kind of pushing for more research," she said.
Family hopes to attend conference, meet others with condition
Siedler hopes to attend an NGLY1 conference in San Diego, CA in February of next year. She's started a GoFundMe campaign to help raise money for the trip and for some of Willow's medications, one of which is over $100 a month.
The campaign has already raised over $1,700 of its $10,000 goal.
Siedler said she was reluctant to ask for help, but in order to facilitate all of her daughters medical appointments and physical therapy sessions, she's had to reduce her hours at work and money is tight.
"I was resistant at first, it's a pride thing, I didn't want to ask for help but then I decided I needed to do this for Willow," she said.
"I'm hoping I can learn more there and meet some more people and actually see them and find out what they know, and what they're looking into," said Siedler.
She said she's happy she finally has an answer, but admits it's bittersweet.
"The plans that I had for her when she was not yet born, of going to college, going to university, getting married, are something that I don't know that she's necessarily going to have anymore, and I have to mourn the loss of that and come to terms with it," she said.
With the help of her husband, Siedler said she's learning to keep positive and focus on what matters.
"To focus on the new goals and new milestones, of walking, or speech, saying our names, saying her brother's name, and that will be what we celebrate with Willow."