This online mag is for showcasing artists and small businesses. But sometimes something unrelated comes along that is really important. Amanda Shingleton is a young mom who has a 21-month-old baby. She and her husband recently moved from Vancouver to Kamloops. And, after several months of waiting for test results, they just got a rare diagnosis for their cute little girl.
The diagnosis? Kif1a Associated Neurological Disorder (KAND). What this means for Emma is blindness and developmental delays. Currently, only seven families across Canada are navigating this disorder, and only 300 worldwide. Imagine being a young couple with a new baby and now you are on a challenging journey you never expected? Amanda explains more about her unique situation, how they are coping and what their next steps are:
“She is just shy of 21 months old and was just diagnosed with an extremely rare genetic disorder. It is considered to be a rare neurodegenerative disorder and there are only 300 cases world wide. I’m hoping to not only bring awareness of the disease but to the fact that most research on rare diseases is funded mostly by the public. This makes it that much harder to find a treatment or cure. The organization for my daughter’s disease was founded by parents of affected children. They have done an amazing job at spreading awareness and raising funds towards multiple research areas for the disease. We are very new to this. We finally got the diagnosis on February 26 after waiting for eight months of testing. From this point forward will be doing everything in our power as a family to help find a treatment.”
For more information or to donate to this cause, you can connect with Amanda on Facebook. Thank you for sharing your story Amanda!