Awareness Days

Written by IDEA committee member and Grandview Kids parent, Abby V.

Rare Disease Day is an international event held on February 28 to raise awareness about the impact of rare diseases on people’s lives and to emphasize the need for research. Canadian families with rare illnesses are facing extraordinary challenges. These include misdiagnosis, unnecessary surgeries, social isolation, financial hardship and lack of treatment options.

Read the interview between Abby and Owen’s parents below to learn more about his rare diagnosis of Kleefstra syndrome and his relationship with Grandview Kids.

---

Q: What does Owen like to do? 

A: He loves to listen to stories, go for drives in the car, watch wrestling with his dad, and dance, bake and snuggle on the couch with his mom. Like a typical little brother, he also loves to torment his sister and looks forward to her visits home from school. 

Q: What is Owen’s diagnosis and how rare is it? 

A: Kleefstra Syndrome, a microdeletion at 9q34.3. At the time of diagnosis in 2010, he was only the 124^th person in the world to have Kleefstra Syndrome. With improvements in testing, we now believe there are close to 1000 people worldwide with this diagnosis. 

Q: What is Kleefstra Syndrome? 

A: Kleefstra Syndrome is a rare genetic condition that affects development and involves many body systems. Those with Kleefstra Syndrome are missing the gene EMHT1 which is a regulator for other genes. Symptoms can include intellectual delay, autism, low tone, seizures and speech delay. 

Q: What signs and symptoms led to Owen’s diagnosis? 

A: Owen was not meeting milestones as a baby which was initially believed to be due to his being born 6 weeks early. However, it soon became obvious that his collection of symptoms may have a genetic basis. His nasal bridge was shortened, he had very low tone and was not gaining weight due to feeding and swallowing issues. 

Q: How was Owen diagnosed? 

A: He underwent local testing, and the results came back as unremarkable. We decided to have him do a test in the U.S. that looks for gene changes in cells called FISH testing (fluorescence in situ hybridisation). At the time, this test was not available in Canada and required extensive paperwork and approvals. Now genetic testing is more routine and easier to obtain. 

Q: How has Grandview Kids helped Owen? 

A: Grandview Kids became a big part of Owen and his family’s life soon after diagnosis. He has accessed vital services for his development and well-being, including medical, physiotherapy, occupational therapy, speech-language pathology, recreational therapy, social work and family engagement. Grandview Kids helped build a community of support which without, his family would have been lost. Owen has met many of his milestones at Grandview Kids, including his first words, steps and riding a bike. 

Q: If you could go back to the day of Owen’s diagnosis, what advice would you give to yourselves? 

A: Hold on! Seriously, just let him lead and follow his direction. Nothing changed on diagnosis day. He is still the exact same kid; we just got more information. 

Ryan’s ARFID Story 

Written by IDEA committee member and Grandview Kids parent, Abby V.

Eating Disorder Awareness Week (EDAW) occurs from February 1 to 7 annually across Canada. This week is dedicated to raising awareness and developing understanding about eating disorders and how it impacts people’s lives. Eating disorders come in various forms, each with its unique set of challenges and symptoms. In Canada, an estimated 2.7 million people are impacted with approximately 1.4 million of these being youth. Common eating disorders are Anorexia Nervosa (AN), Bulimia Nervosa (BN), Binge Eating Disorder (BED) and Avoidance Restrictive Food Intake Disorder (ARFID). 

Ryan is a sweet, curious and intelligent eight-year-old boy who lives with his doting parents, Ali and Dima, and their beloved cat, Goldie. He loves spending time outdoors in nature collecting leaves, catching bugs, fishing at his family’s cottage and playing at the beach during family vacations. His curiosity is seen through the endless questions he will ask his parents about topics of interest, including numerous studies of science such as physics, space and animals (reptiles and ocean creatures).  

When Ryan’s mom, Dima, was pregnant with Ryan, she was referred to Ontario’s free Healthy Baby Healthy Children program that provided her with a nurse to help guide her through pregnancy and provide postpartum support due to her lack of family in Canada. A few months after his birth, he began to exhibit some alarming signs of concern which included how the way he would play (spinning everything), lightly hitting his head on wall and babbling that ceased at six months. The biggest alert was his refusal to eat solid food.  

Soon after, Ryan’s paediatrician referred him to Grandview Kids. “We were lucky to meet our Grandview Kids doctor after a short waitlist of five months. Ryan was only 18 months old. We feel very fortunate to receive an early diagnosis of mild autism spectrum disorder (ASD) six months later which allowed us to provide early intervention,” recalls Dima. His refusal to eat was still a huge challenge and Dima knew it was not just “picky eating” due to his ASD. She connected with other specialists and parents in the community, which led her to discover Avoidance Restrictive Food Intake Disorder (ARFID).  

Ryan was referred to Holland Bloorview Rehabilitation Hospital to participate in the first ever ARFID study for kids in Ontario and Ryan received an official ARFID diagnosis. As there is a lack of information and programs offered for ARFID for kids under the age of 18, this study was promising but unfortunately did not continue for long. Dima and Ali continued to provide Ryan with unwavering support. At Grandview Kids he accessed services in Speech-Language Pathology, Occupational Therapy (OT), Therapeutic Recreation Therapy and went on to private OT and a food explorer therapy program. While the interventions certainly helped Ryan in many areas affected by his ASD, he was still not eating any solid food. They considered applying for costly programs offered in the US, even going as far as communicating with the Ontario Ministry of Health in hopes of securing funding as these vital programs are not offered in Canada. 

Ryan’s turning point was during the Summer of 2024 when his Grandview Kids’ paediatrician suggested the use of an antidepressant medication to curb his anxiety around food. “When he looks at a plate of food, he doesn’t see food. Instead, he sees something scary like spiders. Ryan used to cry when he would see me with a plate of food and would take me to my bedroom thinking he was keeping me safe,” says Dima. At 7.5 years of age, Ryan was finally able to consume solid food for the first time in his life. With the help of his amazing Grandview Kids team consisting of his paediatrician, nurse, and nutritionist who meet monthly to adjust the medication dosage to suit Ryan’s needs, “he is less anxious around food, more willing to play with it and comfortable to try and put it in his mouth.”  

Eating remains a challenge as he will still only eat five food items, often gaining one type only to drop another. Dima shares how “it was stigmatizing for Ryan to drink milk from a bottle at school.” However, she beams with pride and joy because he is now chewing and swallowing food, new skills that he had to learn, and he can go to school with a lunchbox like his peers. His success has really driven his parents to shift their perspective. “Once I stopped comparing him to others, and began comparing him to old versions of himself, I could see the progress. I tell him to be proud of himself. His teacher said he has high self-esteem because of his supportive, loving parents.”  

Feeding Tube Awareness Week, observed from February 2 to 8 this year, aims to increase the understanding of feeding tubes and their critical role in supporting the health and well-being of children with medical complexities. The week promotes best practices, innovations and the lived experiences of families who rely on tube feeding.

Founded in 2011, this initiative has grown into a nationwide movement, with SickKids Hospital launching the first Feeding Tube Awareness Week in Canada in 2020. This global observance, held annually in the first week of February, highlights the life-saving impact of feeding tubes and helps challenge the stigma surrounding them. Families come together each year to share stories and raise awareness of their positive influence on patients’ lives.

Jamilah’s story

Tabitha’s birth plan for her youngest child, Jamilah, was drastically altered when cysts in Jamilah’s brain were discovered at the 20-week scan. This was followed up by testing positive for Trisomy 18, also known as Edwards Syndrome, during the noninvasive prenatal testing (NIPT) tests and confirmation of the genetic disorder at 32 weeks gestation. Edwards Syndrome affects many body parts, causing health issues that include feeding or sucking difficulties, trouble gaining weight and congenital heart issues. Tabitha’s high-risk pregnancy resulted in an induction at 34 weeks of pregnancy to ensure her team of healthcare professionals would be present to assist her during the birth. 

Jamilah spent nearly three months at the hospital’s Neonatal Intensive Care Unit (NICU), where she initially had a Natrogastic (NG) Tube but began projectile vomiting her feeds. Her medical team advised that a Gastrotomy Tube (G-Tube) was her only real option to keep her thriving. Jamilah was transferred to SickKids Hospital for G-Tube insertion and stayed in the hospital for two additional months for growth and stabilization.  

Knowing that you are making the right decision for your child as a parent does not always make it easier. Tabitha had to come to terms with the fact that since there was no other choice, there was no point in being upset. She would learn to make the best of it for her daughter. She recognized that the G-Tube was helping Jamilah thrive, along with other positive changes. Regular feeds made it easier to schedule appointments and her calendar.

As a single mom working from home, a G-Tube alleviated the time spent sitting down and bottle-feeding Jamilah every time she was hungry, as formula can be fed straight through the tube. However, there are challenges attached to having a G-Tube, such as getting outside of the home with all necessary equipment and sometimes requiring stopping on the side of the road to administer a scheduled feed. There is also the learning curve to prevent the tube from being pulled out and what to do if it happens. 

Tabitha’s advice to other parents starting or continuing their G-Tube journey is to “take it all in stride and watch for what your child needs and what will help them thrive.” Becoming a medical parent makes one second guess their own skills and abilities to raise their child effectively, but those parental instincts play a huge role. “Pay attention to your child and not the diagnosis. Nobody knows your child better than you know them. You will know what is working and what is not,” Tabitha reminds fellow parents. It is vital to work collaboratively with your healthcare team but know that you—as mom, dad or caregiver—are the one with your child every day and are their biggest advocator. 

Feeding Tube Awareness Week, observed from February 2 to 8 this year, aims to increase the understanding of feeding tubes and their critical role in supporting the health and well-being of children with medical complexities. The week promotes best practices, innovations and the lived experiences of families who rely on tube feeding.

Founded in 2011, this initiative has grown into a nationwide movement, with SickKids Hospital launching the first Feeding Tube Awareness Week in Canada in 2020. This global observance, held annually in the first week of February, highlights the life-saving impact of feeding tubes and helps challenge the stigma surrounding them. Families come together each year to share stories and raise awareness of their positive influence on patients’ lives.

Henley’s story

Henley lives with his parents, Josh and Laura, and their two dogs, Riley and Zoe. At seven months of age, Henley was diagnosed with Kabuki syndrome, a rare genetic disorder that affects multiple parts of the body. In Henley’s case, his diagnosis primarily affects his feeding abilities and hips. The first sign that hinted at something being amiss began when he was not feeding well nor gaining weight. When he was two months old, he received a failure to thrive diagnosis and required life-saving intervention through the insertion of a Nastrogastic (NG) Tube which was five months later replaced with a Gastrostomy Tube (G-Tube). 

Josh and Laura’s journey started before Henley’s conception as he was a surrogate baby conceived through an egg donor. Henley was a baby that the family truly desired and waited for patiently. Therefore, despite doing everything they could with prenatal genetic testing through the fertility clinic, his genetic disorder was a shock.  

Laura, also a professional Registered Nurse, admits that the decision to insert a G-Tube was harder to accept than the actual Kabuki syndrome diagnosis itself. “Overall, it was a lot to process, but with the G-Tube, as a mom and nurse, it seemed so permanent. We tried to avoid it but when looking at the pros and cons, and the thought of not nourishing your child at all, the G-Tube made the most sense,” says Laura. The acceptance piece took time but after processing everything, it was the best decision for Henley and the whole family as it allowed him to get to where he is now.  

Henley’s parents worked closely with his nursing team to educate themselves on how to use the device correctly and to best meet Henley’s needs. Laura explains that “it was a learning curve. We had to know what medications and food/formula could be given through the G-tube, how to vent the tube (opening the tube to allow trapped gas/air to escape and massaging his belly), organize a caddy with syringes, prevent Henley from pulling the tube out and work around a new feeding schedule wherever we were. Henley had a G-Tube backpack which made it easier on the go.”  

Henley’s G-Tube journey has recently ended with the successful removal of his G-Tube. After swallowing assessments and being guided by a dietitian, his parents were able to safely introduce oral foods for him. Through a gradual wean of slowly decreasing his G-Tube feeds, he started to show signs of hunger and began eating purees and drinking water. Although they now face different challenges, he is primarily orally fed.  

Laura acknowledges that Henley’s success story may not be the same for others and feels very fortunate to have reached this point. Her advice to other parents who may be at a crossroads debating the use of a G-Tube for their child is to “look at what it can do for your child. Let your child lead the way through the journey by following their cues and trusting the medical team in the process. The harder decision is sometimes the right decision, even if at the time it is hard to accept. Educate yourself the best you can, talk to other parents with similar journeys for added support and ask questions – there are no silly questions, you need to be 100% comfortable with what you are doing. Finally, try to see the process as a positive experience knowing that [the G-Tube] is helping your child.” 

Henley is now two years old and nine months. He eats orally and his favourite foods are strawberries and cheese and crackers. Following a simple procedure in Fall 2024, Henley had his G-Tube removed and has healed well.