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 has basically never been diagnosed here in Manitoba, I know of at least three other patients in Canada that have had the condition," said Dr. Patrick Frosk, the clinical geneticist at Health Sciences Centre's Children's Hospital who diagnosed Willow last week.

Anna Siedler and Willow

Anna Siedler, Willow's mother, says not knowing Willow's diagnosis for nearly two years was frustrating because she wanted to know how to help her. (Holly Caruk/CBC News)

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.

"Our pediatrician was pretty upfront right from the get go … saying you're looking at at least two years of testing to maybe find an answer by then, maybe longer, and it's quite possible that you'll never know," she said.

Willow feeding

Siedler says she knew something wasn't right with Willow because she had trouble feeding as her as a newborn and she wasn't reaching developmental milestones. (Supplied)

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.

"For these really rare conditions where it's likely you may never see another case in your life, and you wouldn't necessarily recognize it because it's so rare, this is the best way to find it," he said.

Dr. Patrick Frosk

Dr. Patrick Frosk, a clinical geneticist at HSC Children's Hospital, diagnosed Willow with NGLY1 last week. This is the first time a Manitoban has been diagnosed with the rare condition. (Holly Caruk/CBC)

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.

"She's a bit of a mystery … her future is a little bit unclear at this point. I hope she has at least until her twenties, there are kids [with NGLY1] in their twenties," she said.

Willow Howard

Willow receives physical and speech therapy and is making progress by learning to sit up and roll over. (Holly Caruk/CBC)

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.

Siedler said she wants to attend the conference with Willow as well as her husband and son, so that they can meet other NGLY1 families.

Winnipeg girl 1st Manitoban to be diagnosed with rare genetic disorder1:48

"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."

Holly Caruk