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Check out some of our community members and their stories!

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Mila, born in October 2018 in Canada, entered a challenging journey with Homocystinuria (HCU) just a week after her birth. Her parents received a phone call revealing her diagnosis of "Classical Homocystinuria," prompting a week-long stay at British Columbia Children’s Hospital. A dedicated medical team worked to stabilize Mila's elevated levels, creating a treatment plan involving B6, Folic Acid, Betaine, formula, and regular blood work. Despite concerns about her diet, potential developmental issues, and the social aspects of growing up with dietary restrictions, Mila adapted well to treatment, displaying resilience and spirit. Her parents emphasize the importance of support and community in navigating the challenges posed by HCU, and their goal is to ensure Mila's condition doesn't define her, allowing her vibrant personality to shine through in various aspects of life.

(Published in 2023) Shared with permission from full story here

Masen, born in May 2013 just outside Vancouver, Canada, brought immense joy as a seemingly healthy baby. However, challenges emerged as he faced respiratory issues during childhood colds and required glasses before kindergarten. The struggle with reading and worsening vision led to a profound discovery: Masen was diagnosed with Homocystinuria (HCU) in June 2021 at the age of 8. The family's world turned upside down as they grappled with the health risks and adjustments needed to navigate this new reality. Daily life now involves a strict diet, bi-weekly blood draws, and a regimen of supplements. Despite these hardships, Masen, an energetic and resilient boy, faces each day with courage, humor, and a love for sports and Pokémon. The family dreams of a future where Masen's daily life won't be dominated by such strict management, but until then, they celebrate victories and tackle the journey one day at a time.

(Published in 2023) Shared with permission from full story here 

Samantha's journey with Homocystinuria (HCU) began with an unconventional diagnosis at the age of 2, as breastfeeding likely delayed symptoms until the introduction of solid foods. Despite early challenges, including seizures and muscle tone loss, Samantha defied predictions and not only survived but learned to walk and talk. Speech therapy addressed some communication difficulties, and she tackled protein limitations to curb stuttering. Samantha surpassed expectations, graduating from high school and pursuing Early Childhood Education. Now a Full-Time Preschool Teacher, she passionately imparts knowledge to young minds. Samantha's zest for life extends to travel, having explored Australia and planned a trip to Egypt. Embracing her genetic condition, she encourages others facing HCU, emphasizing resilience, self-belief, and the transformative power of this unique journey.

(Published in 2023) Shared with permission from full story here

Koen Kucher is a 14-year-old boy from Regina, SK with PKU. Growing up he loved sports and throughout the years was involved in hockey, soccer, basketball, figure skating, Tae Kwon Do, dance and swimming. In 2016, he plans on joining archery and track & field at Martin Academy sports school. His main sport of focus, however, is figure skating because of the technical and challenging aspects. He has been skating since age three and currently trains year round as a competitive high performance athlete both on and off the ice.

In December 2015, he competed at the Skate Canada Challenge in Edmonton and won a gold medal for his province in the pre-novice men’s category. This made him a national figure skating champion, the first that Saskatchewan has seen in 25 years in this sport. Although having a lifelong, rare illness like PKU has its challenges and has set him apart from other kids, it has not stopped Koen from achieving his goals. When he travels throughout Canada to compete, he always packs his medical drink to both make and drink daily and follows the low protein diet. Learning to overcome the challenges of this condition and adhering to the strict dietary requirements has taught him the discipline that he uses on the ice in both training and in competition.

(First Published 2016)

Hillary is a 22 year old student at McMaster University. She is currently completing her fourth year in a combined honours program in Economics & Communication Studies. She is an active member of her university community and takes on a variety of leadership roles. She is also a member of MENSA.

Hillary was diagnosed with classical PKU within a few days of being born. She is currently treating her PKU with diet and formula and is restricted to less than 8.5g of protein per day. Like many young adults with PKU, she is going through the process of learning to manage her diet on her own both with everyday meal plans and eating out with friends. However, she does not let her restrictive diet hold her back – Hillary spends her summers working in the Rocky Mountains and living in dorm-style staff housing accommodations.

After suffering a serious spinal injury and being diagnosed with osteoporosis Hillary is committed to a healthy, active lifestyle and is currently learning how the PKU diet affects strength training and fitness. In her free time, Hillary enjoys outdoor recreation and adventure sports. She recently went on a 10 day white-water canoe trip down the Rio Grande, and managed to accommodate her low-protein diet and medical needs in a back-country, desert environment.

Hillary is excited to share her stories with you and hopes to illustrate that PKU does not need to inhibit one from living an adventurous, healthy and successful life. 

(First Published 2015)

Kalina was born on February 2nd, 2008 and lives in Edmonton, AB. She was diagnosed a week after her birth with CPKU. Her parents are very grateful that they have the Stollery Hospital in Edmonton as the dieticians and doctors made it easier to understand and accept her condition. When she was born they gave her Kuvan to see if she would respond, and to their surprise she did! When Kalina was two years old, the Stollery did a study on Kuvan where they had to take weekly blood samples for six weeks. Her tolerence went from 210mg to 460mg in five weeks. Unfortunately on the fifth week, they found an issue with her liver and she was taken off the study. Kalina was advised that she can later go back on Kuvan and her parents decided that next year will be a good time to start on Kuvan again.

Kalina is an intelligent and athletic seven year old who plays baseball and gymnastics. Recently she has been asking to play the drums so Santa brought her a set for Christmas – incredibly, this quick learner has now already started to read music! Kalina has surprised her parents with all expectations and they are very proud of her!

Kalina is very aware of her PKU – she knows what she can and cannot eat. Her daily intake is 240mg of phe. Kalina loves her Vanilla Phenylade Essentials formula. She is very helpful to her mom by preparing her formula for the day and for certain meals.

The entire family went to their first Prairies PKU Day last year in Red Deer. Kalina was excited to meet other children with PKU and was so happy to find out that she’s not the only one. They are all looking forward to seeing their friends again (and meeting new ones) at the yearly events!

(Published 2015)

Marc Is 14 CPKU.  He has been using PKU Cooler 20's in Red for quite a few years now.  He doesn't love the taste, but likes that he can squeeze the pack and finish it quickly!

Thomas is an all-out actor. He likes comedy, drama, making faces, attitudes, and is very close to his emotions. He’s the definition of a chatterbox, he’d be rich and famous if he had a penny for each word he says. If he doesn’t end up as an actor, he will surely be a politician, a commentator, or a talk show host.

A straight A’s student, Thomas is always the top scoring of his class, and he’s known to be a positive yet (sometimes too much) talkative student. He’s into making all sorts of videos on his faithful iPod, and he wishes to be a YouTube star someday.

He’s very good at playing chess and has amazed people watching him playing against adults on a giant chess board. He likes to eat pastas accompanied by his grandma’s secret homemade veggie spaghetti sauce.

(First Published 2015)

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