Schwachman Diamond Syndrome is a rare genetic disorder a family in La Broquerie has learned all about since their daughter was diagnosed and is giving back to those who have given to them.
Zoe Nakata says her daughter Annick was born with the disorder and it became apparent there was something wrong when she was two-months-old and stopped gaining weight along with developing colds she couldn't get over, skin infections, and fungal infections. She notes Schwachman Diamond Syndrome affects Annick's immune system, digestion, skeletal system, and liver.
"What this means on a daily basis for her is that she's very susceptible to infections. So, we have to be extra careful with anything that's bacteria; risk of infection, a common cold or flu can get her quite sick and require a hospital visit or even admission at the Children's Hospital."
Nakata adds because the disorder affects Annick's digestion she takes 15 pills a day, in part to provide her with the necessary enzymes to digest her food.
She says early on her and her husband decided they wanted Annick to have a childhood as full of fun and adventure as possible.
"She plays outside, she goes to school. Sometimes that does mean she does need to go to the doctor more often but we kind of felt that it was important for her to live some of the regular childhood fun stuff."
One thing Annick was able to have the opportunity to experience, notes Nakata, was Disney World. She says they were put in contact with Manitoba-based Dream Factory and the experience has been life-changing for their daughter.
"Annick's dream trip, she chose to go to Disney World because she wanted to be a princess and where is the best place to become a princess, right in Disney World. So, we got to go on a week-long trip and during that trip, we got to do all the fun Disney parks. The best part of the trip and the most special for her was her princess makeover. She got to become Elsa."
Dream Factory Executive Director Howard Koks says since inception they have been able to grant over 700 dreams with 31 dreams in 2016 and 36 in 2017. Koks notes there are no limits to granting a dream for a child with a life-threatening illness or disorder in Manitoba.
"[Annick] is just a sweetheart. She doesn't generally have that much to say but she's always very easy to talk to and you know what she's thinking. She's a wonderful child and a brave, brave little warrior. She's still going through so many challenges and she's just always so positive."
He says the whole family is positive while facing many challenges and yet give of their time to talk to groups and raise money for research of Schwachman Diamond Syndrome.
Nakata explains because it's a rare disorder there hasn't been much research done and at this point, the best case scenario is status quo.
"There is an option for a bone marrow transplant that would kind of reset her whole bone marrow and ability to produce white blood cells but these procedures are very hard on the body of children with Schwachman Diamond Syndrome and certainly don't come without a very high risk."
She says Annick is a spunky 7-year-old who loves to play and dance, adding what she wants to be when she grows up changes from day to day.
"One day it could be a rock star, not a pop star, a rock star because that's just how spunky she is. Then another day it's maybe a hairdresser, then the next day it's a princess, and then a firefighter. What makes us the happiest is that she truly believes she can be any of those things."
Nakata notes because Schwachman Diamond Syndrome is a genetic disorder there is no cure and through the years they have felt support from their family and their community which has meant a lot.