This spring, there's nothing that makes four-year-old Nico Kline happier than riding around outside his Lynn Valley home on his push tricycle.
For his parents, Marcela and Derek, there's nothing that makes them happier than watching their son do so.
"He's doing so well," says Derek. It's only been the last year that Nico has been able to walk. While he still has some balance issues, he's able to motor about on his bike with their assistance, just one of the many milestones his parents are continuing to celebrate in light of their son's diagnosis with a rare disease.
After Nico was born at Lions Gate Hospital, his pediatrician, concerned with some of his physical attributes as well as difficulties with feeding, started investigating his condition. Initially Nico was diagnosed with a mitochondrial disorder. "They told us basically just to be prepared for the worst, that he probably wasn't going to make it to six months.. .. But as the time went on, he was getting stronger and he was able to do more things that they didn't think he would be able to do," says Marcela.
Nico is continuing to beat the odds and as the years have progressed, his medical team has rediagnosed him with kabuki syndrome, affecting one in 32,000 births. The condition has resulted in developmental delays and low muscle tone overall and his eyesight, hearing, mobility and ability to eat are affected. Nico is also non-verbal, though is learning sign language and is excelling in a preschool program offered through Burnaby's Deaf Children's Society of B.C. He's not on any medications, though sees a number of therapists, including occupational, physical and speech.
Nico is a joy to his parents, as he is an incredibly happy, friendly and positive little boy. "He has taught us so much - just compassion and acceptance," says Marcela.
However, having a child with a rare disease can be isolating, according to the couple. A continued source of support and resources has been the Rare Disease Foundation.
Despite the fact that approximately three million Canadians have a rare disease, attracting research dollars proves challenging in contrast to more common diseases. There are believed to be more than 7,000 diagnosed rare diseases, which are defined as conditions affecting fewer than one in 2,000 people, according to the foundation. Comprised of parents, caregivers and clinicians, the foundation seeks to fill a needed gap for rare disease patients and families by running a microgrant program, supporting research on patient-focused projects for rare, under-studied diseases. As well, the foundation offers Parent 2 Parent Resource Networks, offering regular roundtable discussions and guest speakers, disseminating information and facilitating social support.
Marcela is an avid member of the foundation's Vancouver Area Parent 2 Parent Resource Network and attends its regular sessions offered at B.C. Children's Hospital campus, viewing them as an amazing opportunity to meet with other parents facing similar challenges.
"All the parents are in the same boat," she says. "It's so nice to share some of the experiences because those parents understand," she adds.
Marcela also appreciates that the sessions are webcast or posted online so if she's unable to attend, she can still access the information.
The foundation is presenting their fifth annual fundraiser, Rare Finds, A Feast for the Senses, featuring a number of Vancouver's top chefs and mixologists, as well as entertainment and an auction, Saturday, April 26 from 7 to 11 p.m. at VanDusen Botanical Garden. For tickets or to get involved with the foundation as a program participant, volunteer or donor, visit rarediseasefoundation.org.
