Thursday, April 14, 2022
World Hemophilia Day is dedicated to raising awareness surrounding hemophilia, a rare disease which prevents the normal clotting of blood. [i]
In most cases Hemophilia is a hereditary genetic disease, however 1/3 of all cases result from a random genetic mutation where there is no prior family history.[ii] This was the case for Megan and her son Robbie, who was diagnosed with severe hemophilia A – a type of hemophilia that only approximately 2,500 Canadians live with – at eight months old.[iii]
Prior to Robbie’s diagnosis, Megan and her husband noticed that he would get many large bruises and hematoma. At first, they brushed it off, until one day they noticed that Robbie contracted abnormally large bruising after simply jumping up and down during his bath time.
She and her husband immediately knew this was cause for concern, so they took Robbie to see his pediatrician to seek answers, which soon thereafter led to a referral to McMaster Children’s Hospital.
They met with a doctor in the hematology and oncology ward – something that was terrifying for both Megan and her husband, given they were still unsure of what the diagnosis would be. Soon after, Robbie’s diagnosis with severe hemophilia A was confirmed.
Although receiving the diagnosis was somewhat of a relief for their family, it was still a very scary day. Megan recalls thinking, “He’s made it 8 months before being diagnosed, how many times did he fall or have bleeds until we found out?”
Luckily, Robbie’s team at the Hemophilia Treatment Centre (HTC) was incredible – in addition to his doctor, he had a social worker, physio therapist and nurse to support them as they navigated this new diagnosis.
But, even with the resources they had available, including the big binder of information they received from the HTC, navigating day-to-day life was daunting. “It’s not even medical advice so much as it is to know what questions you should be asking your team,” says Megan. So, she and her husband began searching for further guidance; combing through and trying to piecemeal together information from the Internet.
That’s when they stumbled across Hemophilia Ontario, the Ontario Chapter of the Canadian Hemophilia Society. They then attended a meeting and started to see they had events and information available on their website and became official members.
“I’m really passionate about reaching out to other families and helping them, especially those that are just going through a diagnosis,” Megan says, having now been a member for the last two and a half years. “Before connecting with Hemophilia Ontario, I was worried my son wasn’t going to meet another child with hemophilia or be able to understand the disease he is living with.”
Through the organization, Megan’s family has been able to meet other families that have gone through similar journeys, and have even become quite close with a family that has a son one week older than Robbie who also lives with hemophilia A.
Despite finding this close-knit community, their family has certainly undergone their fair share of struggles along the way. For example, things like finding childcare proved to be extremely difficult, as many childcare providers would decline to watch Robbie once they found out about his condition. The family was able to seek childcare through Megan’s in-laws, but there were times when she worried that she would need to quit her job. “There is an intense amount of fear that occurs when Robbie has a bleed and the stress of not knowing what the outcome of that bleed means,” says Megan. “Being so close to the hospital and finding this community has helped to battle that fear.”
Now that Robbie’s in Senior Kindergarten, it’s important that their family maintains a certain schedule. “Our family’s life is all about balance,” says Megan. “We need to be extremely structured and scheduled to ensure that Robbie’s treatments are done each day as part of his morning school routine. On top of that, we need to put binders together to educate school staff on hemophilia to ensure they understand Robbie’s needs.”
Robbie is a very active, happy kid. But looking back, Megan is grateful that their family lived in Hamilton, Ontario at the time of Robbie’s diagnosis, given access to the types of services they received, might not be the case for other families. “Some families need to drive hours for each appointment,” says Megan, underscoring the importance of access to healthcare resources.
The struggles her family has endured, coupled with the strong bonds they’ve formed through Hemophilia Ontario, continue to energize Megan and her husband to support other families, particularly those that are just going through a diagnosis.
“You really build a sense of belonging and family,” says Megan. “It’s a chance to give back and for kids to learn what’s going on and hopefully find mentors through parents, caregivers, and in general, just emotional support. Awareness of hemophilia is still not where it should be. It’s about driving awareness and doing it in a positive way.”
Pfizer Canada is dedicated to supporting Canadians impacted by rare diseases, including hemophilia. It is stories like that of Megan and Robbie that serve as an important reminder for the work that still needs to be done to raise awareness.
To learn more about hemophilia visit https://www.hemophilia.ca/.