When Janet and Trent Standard welcomed their daughter two years ago, they not only embraced parenthood but soon advocacy after discovering she was born with a rare genetic condition.
The Vancouver couple knew little about Smith-Magenis syndrome, a rare developmental disorder affecting multiple organ systems. After more than a year of tests, their daughter, Hazel, was officially diagnosed March 22. From there, the couple plunged into research, seeking answers, resources and support.
“After her diagnosis, everything was on Trent and I to figure out. I still feel like we’re still trying to get resources,” Janet Standard said. “I had to buckle down. It was very clear that there’s so many people that fall through the cracks. I had to be her advocate and find those resources.”
Smith-Magenis syndrome is rare, affecting only 1 out of every 15,000 to 25,000 people worldwide, according to Cleveland Clinic. The syndrome was first discovered in medical studies in 1982 by Ann Smith, a genetic counselor. It can affect a child’s ability to fall asleep and stay asleep, their ability to learn and other developmental behaviors.
If You Go
What: Walk-A-Thon fundraiser to support Smith-Magenis syndrome resources
When: 10 a.m. to 2 p.m. Saturday
Where: Evergreen High School, 14300 N.E. 18th St., Vancouver
Cost: Donations. All money raised will benefit Virginia-based nonprofit PRISMS
Information:smschampions.org
Hazel’s diagnosis consisted of a deletion of the 17 and 17p11.2 chromosomes, which can play a major role in the development of the disorder, according to the National Organization of Rare Diseases. Her diagnosis also included a deletion of the FLCN gene, which is associated with Birt-Hogg-Dubé syndrome, another rare disorder that affects the skin and lungs, and increases the risk of certain types of tumors.
Throughout their journey navigating the health care system and learning about Smith-Magenis syndrome, the couple connected with PRISMS, a Virginia-based nonprofit that supports families and people with Smith-Magenis and increases awareness and understanding of the syndrome.
As the Standards continue to navigate a challenging health care system with few clear solutions, they are hoping to raise awareness by connecting with the community. They are hosting a Walk-A-Thon fundraiser from 10 a.m. to 2 p.m. Saturday at Evergreen High School, 14300 N.E. 18th St., Vancouver, to raise money for resources dedicated to Smith-Magenis syndrome.
All of the money raised at the event will be donated to PRISMS, or Parents and Researchers Interested in Smith-Magenis Syndrome.
‘Something felt different’
Janet Standard, 27, said she always felt like something was different during her pregnancy and Hazel’s birth.
“Something common with SMS is there’s a really complicated birth, and we fit all the criteria,” Janet Standard said. “Like, we had an emergency C-section. We were at the hospital for a week because she (Hazel) was losing so much weight, and she wasn’t feeding. So from the very, very beginning, there was always something wrong, but it wasn’t bad enough for intensive people to intervene.”
The first nine months after Hazel was born, the couple noticed she wasn’t meeting any of the developmental milestones for her age.
Hazel started taking different medications and seeing specialists at OHSU Hospital. She also received primary care at Vancouver Clinic and therapy at Legacy Salmon Creek Medical Center, the Standards said.
But they didn’t have a clear answer until March.
Janet Standard said Hazel’s official diagnosis was posted online via MyChart, and the couple never received a call from a doctor explaining the results of the genetic test.
“We didn’t get a phone call. No one called us. We called every department trying to get someone on the phone to interpret what we saw,” said Trent Standard, 27. “It’s so frustrating, because we’re not doctors, and we feel like we have to be the subject matter on this. It’s like, ‘Please, tell us what to do.’ If me and Janet weren’t on our game, outside of the early intervention resources, I think Hazel would have definitely fallen through the cracks.”
Janet and Trent Standard said Hazel was the first case of Smith-Magenis syndrome that most of her physicians and specialists had seen, and they were often left to find their own resources.
The Standards said a doctor told them the couple will soon know more about Smith-Magenis syndrome than her.
“I would say that it is on one hand so beautiful and sweet to be able to be the parents of a special needs kid, because they’re just amazing,” Trent Standard said. “But it’s also hard. It’s the sweet and sorrow combo. There’s inevitably going to be difficult days that other parents may not experience.”
Despite Hazel’s diagnosis, the couple said she is happy, expressive, funny and can smile at anything. They want Hazel to be proud of who she is and have a day dedicated to celebrating that.
The couple said that although Hazel’s journey ahead is unknown, they want her to look back on her life knowing that her community loves and supports her.
“We’re Hazel’s best shot and chance. We have to be her champions in a lot of ways,” Trent Standard said.
