global connections: Canadian Edition
Q: Tell us about your family and share where you are from. My name is Leah and my husband's name is Josh. We are the parents to our two beautiful daughters Sophia & Hailey. We live in Bancroft, Ontario Canada.
Q: Which of your family members has HADDS? Our daughter Hailey who is 4 years old, has been diagnosed with EBF3 HADDS gene mutation in April 2020.
Q: What is her personality like? Hailey is truly a SUPERSTAR. She is caring, empathic, a quick learner, very determined, not shy at all and extremely stubborn (which I feel is the #1 quality). She wouldn’t be where she is today without being stubborn, determined and not afraid to try new things. She is adventurous. She never lets anything hold her back.
What HADDS symptoms does she most commonly display? HADDS symptoms Hailey most displayed are, urology issues such as frequent UTIs, Neurogenic Bladder, Left vesicoureteral reflux, constipation. Hailey is walking independently on her own, jumping, skipping, running and can walk up hills and on uneven ground independently with only falling occasionally. (Ataxia) She still falls daily but is so independent and eager to do things on her own without help. She uses a walker on longer walks or tougher terrain. She has an extremely high pain tolerance. Speech delay, Hailey started using an AAC device (Augmentative and Alternative Communication Device) with the program LAMP words for Life in February 2021. It has helped with her communication/speech so much and she has started talking in sentences since receiving the device. Neuro Itch (which only seems to affect her when she is tired).
Q: Has Hailey had any surgeries related to HADDS symptoms? Cystoscopy: Deflux Injection used to treat vesicoureteral reflux in November2018, but Urologist did not complete it because once in her bladder made them concerned that perhaps the cause of her reflux is a high-pressure bladder.
Q: Have you had difficulty accessing therapies? We haven’t had difficulties accessing therapies. Hailey started Physiotherapy in September 2017 she was 6 months old; she has been attending regularly since then. She also sees a Speech and Language Pathologist & Occupational Therapist since September 2017.
Q: Do you know of any other families in Canada with HADDS? Yes, I talk frequently to two families in Ontario, Canada. We have only spoken on the phone or through Facebook. We have not met in person yet but have spoken about meeting in the future.
Q: What would you like to see in terms of the HADDS community in Canada?
I would like there to be more understanding, knowledge of HADDS in Canada medically. When Hailey got her diagnosis. The genetic doctor knew nothing about it. She could only find one article/study. It wasn’t until I started to do my own research that I found the HADDS foundation and the HADDS Facebook group. I would love to help spread more awareness. Q: How did you find out about the diagnosis? Hailey started her genetic testing journey when we found out about her Cleft Palate and her Cleft Team sent her for genetic testing. The testing involved getting blood taken. This was done at Toronto Sick Kids Hospital at the beginning with referral through her Cleft Team. Every test that was done all came back normal. Later, Hailey’s Urologist sent us to Peterborough Regional Health Centre to the Genetic Program. It was there that Hailey got more genetic testing done, everything came back normal. It wasn’t until February 3, 2020 when her Genetic Doctor got approval to go ahead with Patient Plus Analysis (Prohand and Parental Targeted Testing) this was complete at Peterborough Hospital where we got the EBF3 HADDS diagnosis in April 2020.
Q: What questions still remain about her HADDS diagnosis? Our biggest question is her Urology issues. Hailey has frequent UTIs, Neurogenic Bladder, Left vesicoureteral reflux. Will this ever improve? Will she have to be catheterized daily for the rest of her life? Q: Were you and your husband relieved with the diagnosis or more upset? My husband and I were very relieved to have answers. Finding out Hailey had EBF3 HADDS helped answer a lot of questions. Up until the diagnosis we had no idea what the Neuro Itch was and what caused it and what helped prevent Hailey from doing it (therapeutic brush or ice cube). Also, being a part of such an amazing, helpful, supportive group of people. It truly is amazing to be able to talk to someone who completely understands everything you are going through and could help, give advice when needed or literally have someone just be there to vent/talk to through difficult times. I love our HADDS COMMUNITY.
Q: What therapies do you participate in? Physiotherapy, Occupational & Speech Therapy. Q: Do you feel you have adequate access to medical care?
Even though little is known about EBF3 HADDS in Canada I feel Hailey’s team of therapists (PT, OT, SLP) as well as her Daycare Educators, Resource Consultant through the Daycare went above and beyond to understand Hailey Diagnosis. As well as our Family Doctor and Doctors at Toronto Sick Kids (urologist/Ear Nose & Throat). Once we got the diagnoses, I sent all of Hailey's team of therapist/doctors the link to the HADDS Foundation website where they were able to continue their own research.
Q: Do you worry about your daughter’s future? Yes, HADDS is very rare, and unknown and has very few people diagnosed worldwide. My biggest fear is that people will see the HADDS diagnosis and that’s all they see when it comes to Hailey, that she has a disability. My wish for Hailey is that everyone that crosses her path takes the time to get to know Hailey as Hailey not as Hailey who has HADDS. Hailey is such a smart, independent amazing little girl who literally can accomplish anything she puts her mind to. That is my wish that people take the time to do the research but also take the time to look beyond the diagnoses and look at Hailey as Hailey, the amazing person she is.
Q: Have your family members been supportive of her disability? Yes, our family has been extremely supportive.
HADDS Awareness Month Family photo wearing a shirt that said “I love someone with HADDS”
Q: How do the schools support disabilities in Canada? Hailey has been attending Daycare since 2019, she just recently had her last day at Daycare, which was bittersweet. It was a huge decision to put Hailey into Daycare, one that took a lot of time, tears, anxiety, and discussion but I don’t regret it at all. Making the choice to send her was one of the hardest but in the end one of the best decisions I have made for Hailey. Her Daycare went above and beyond to welcome Hailey, and make sure all her medical needs as while all her mobility needs were met. Hailey will be starting Junior Kindergarten in September this year (2021), the school principal, teachers, Educational Assistants as well as the staff at her Daycare have made the transition from Daycare to School so smooth and have made me feel confident that Hailey will succeed.
Q: What do you love about being Canadian and living in Canada? Even with EBF3 HADDS being as rare as it is, and the health care providers don’t know much about it, I feel our team of doctors/therapists have gone above and beyond to do their own research to understand Hailey’s diagnosis. I am proud to be Canadian.
Q: Anything else you want us to know or want to share about your family? Hobbies, interests, family activities, etc.?
Hailey is our SUPERSTAR. Our family has gone above and beyond to support us and Hailey. Hailey is independent, determined and always willing to try new things, she loves meeting new people, she isn't shy at all. I would also like to point out that Hailey won the lottery on Big Sisters. Sophia is so supportive of Hailey, she encourages her, learns about her sister's diagnoses (asks questions frequently) as well as in her own way helps spread awareness to other people. Hailey doesn't let her diagnosis hold her back, she can accomplish anything she puts her mind to.