Before you read on, make sure to check out Part 1 of our interview, where Annie, Peter, and Patterson discuss what recessive dystrophic epidermolysis bullosa (RDEB) is, Patterson’s diagnostic journey, and how they care for and manage RDEB. In today’s interview, we discuss becoming an advocate and the importance of raising awareness, as well as advice for newly diagnosed families. 

Taking Action

When the McKenzie family began their epidermolysis bullosa journey, there were two clinical trials already in development. The doctors mentioned that maybe there would be a cure in Patterson’s lifetime. Peter says:

“We’re really hopeful that we’re close to a cure. There is a lot of anxiety built up into managing RDEB. We’re concerned about falls or injuries, and about the future. We hope and pray that people continue to invest the time and effort into finding a cure for this because it significantly impacts families.”

But to work towards a cure, Annie and Peter knew that they had to contribute to the cause. They realized that they were managing and coping fairly well and decided to take action. As Annie put it:

“We decided to commit to the idea that this isn’t a pity party. It was time to take action. We had to make a change with our pain.”

The family frequently attends DEBRA conferences and makes connections with other families. This allows them to share direct caregiver and patient knowledge and provides an outlet for Patterson. When they were attending their second conference, Annie reminded him that he’d meet other people with RDEB. Patterson says:

“There would finally be someone who understands! I really liked meeting the people and the doctors there.”

Annie and Peter also launched a small grassroots nonprofit organization called Pursuit for Patterson. All of the funds raised are donated to either DEBRA or the EB Research Partnership for research, or directly to families that need assistance with bandaging, utility bills, or other needs. So far, through Pursuit for Patterson, the McKenzie family has sponsored trips to the DEBRA conference for five families. Annie says:

“We want them to learn and have this necessary experience. We’re so close to a cure. If we can drive funding and awareness through advocacy, we’re just going to get even closer to that cure. We have to share our voice and make people aware.”

The McKenzie Family’s Advice

Receiving a rare disease diagnosis for yourself or your child can be incredibly difficult and overwhelming. So how do you manage that situation? Says Annie:

“It can be hard to share how to manage this since everyone is so different. But my first piece of advice is to reach out and get resources right away through social media or through organizations like DEBRA. In the immediate, just knowing that you’re not alone is so important. Initially, we didn’t want anybody to know or feel how we felt. We should have been celebrating the birth of our son, but we were afraid to let people hold him. But there are people who are willing to talk to you at any time of the day. There is always help available.”

DEBRA also offers helpful resources, such as family connections, information about clinical trials and research, and an EB nurse hotline that families can call for advice or information.

Another piece of advice is to spread awareness and information. This can be difficult sometimes. For example, Annie explains that strangers in public sometimes make comments, such as asking Patterson what he did to cause some of the blistering. It can be hard to navigate these situations or help people to understand what EB is. But through offering facts or sharing one’s story, we can raise awareness on a grander scale.

Isolation can be a huge part of the EB experience. As Patterson explains:

“I feel different from other people. I still have a lot of friends, but I feel left out sometimes that people can do more things and have more responsibilities. Sometimes I have to sit out. I just really wish that I was like other people.”

With EB, certain choices and decisions have to be made to minimize risk and preserve health. This requires some level of caution that can be hard to deal with. But finding avenues for expression – such as Patterson’s legos – can help reduce that isolation. And it’s always important to remind people what they’re capable of, which is often more than we think. As Peter tells Patterson:

“You might be different. But don’t ever let that stop you from doing what you want to do and what we know you can do.”