Rare Leader: Melanie McKay, Founder, Ryker’s Foundation for Pompe Disease

The Basics
Name: Melanie McKay

Title: Founder

Organization:  Ryker’s Foundation for Pompe Disease

Social Media Links:

Disease focus: Pompe Disease, also known as glycogen storage disease type 2, is an autosomal recessive genetic disease. This means that both parents are carriers of a mutated gene that they pass to the baby, causing the disease. Pompe Disease is caused by a lack of, or deficiency of an enzyme called GAA. The enzyme GAA is needed to break down the sugar molecule glycogen. Without GAA, glycogen molecules start to build up in the smooth, skeletal, and cardiac muscle cells. This causes a variety of symptoms that include muscle weakness, cardiomyopathy, liver enlargement, and respiratory failure. Progression of the disease can lead to dependency on a ventilator to breathe, a feeding tube, becoming wheelchair bound, and sometimes death.

Headquarters: Albany, Oregon

How did you become involved in rare disease: I became involved in rare disease after my son Ryker was born in 2016. When he was eight weeks old, we found out that he had a heart condition, and we couldn’t figure out what was causing it. It’s called hypertrophic cardiomyopathy and it’s very rare in babies. They did tons of testing and eventually did genetic testing on him. He was diagnosed at three and a half months old with a rare condition called Pompe disease.

Previous career: Currently a vascular access nurse. Previously an adult ICU nurse

Education: Bachelor of Science in nursing from Grand Canyon University

The Organization
Organization’s mandate: Our organization’s mandate is to make sure that no child has a late diagnosis of Pompe disease like Ryker did. We’ve been pressing for newborn screening in every state. We think that that’s one of the most important aspects of our organization. We also support research and companies that are conducting clinical trials on new and improved treatments for Pompe disease. Current treatment extends children’s lives with Pompe disease, but they still have symptoms. They may end up in a wheelchair and need ventilation. They often plateau on treatment. We’re not exactly sure how long life expectancy is for them because treatment was just approved by the FDA in 2006. We’re looking for organizations that are looking into new treatments and things like gene therapy. We’ve been supporting them with our funds.

Organization’s strategy: Our strategy is to partner with other parents. We find that grouping support together has helped us have solidarity. We’re able to group together and focus and get the word out that way. There’s three of our families here in Oregon who have children with Pompe disease. We’ve been able to network and spread awareness and fundraising. It has been wonderful to partner with other parents who already know what you’re going through and who have the same goals in mind.

Funding strategy: We have gotten some grants from different businesses, but mostly it’s coming just from individual fundraising opportunities, doing 5K’s, raffles, art auctions, things like that.

What’s changing at your organization in the next year: We’ve been working a little bit more behind the scenes, not getting out and doing our normal fundraising at the local levels mostly because of COVID, but it’s given us a great opportunity of being able to work with some different organizations regarding newborn screening. We’ve been able to network and figure out which states are coming up with their newborn screening panel. We reach out to known Pompe patients in those states to ask them to submit letters or phone calls regarding what they’ve gone through because of not having a newborn screen and how that has affected their children. We’ve also been working on a project with a couple of different Pompe organizations and parents about what to do after you’re diagnosed. If you look it up on Google, the information is not updated regarding Pompe disease. It’s very old. It often will say, “this child will die by the time they’re one years old from heart failure,” and that’s not the case anymore. We wanted to give updated information and tell people what you should do after you have a Pompe diagnosis.

Management Style
Management philosophy: It’s a patient and parent led organization. That’s where we get our inspiration from and that’s where we know where the current needs for children with Pompe are. It’s nice to be able to partner with other parents and people with Pompe disease and grow our support that way and manage what we’re doing that way because they’re the lives we are working to improve.

Guiding principles for running an effective organization: Keep it patient focused. Make sure what our goal is and what we’re focusing on is people with Pompe disease, children with Pompe disease, what their current needs are, and how we are going to be able to help them, whether it’s by research and different treatments, or by helping them get to doctor’s appointments, or advocating for newborn screening. They’re always our focus.

Best way to keep your organization relevant: I look forward to the day when it is not relevant anymore, and there’s a cure for Pompe disease. Until then, keeping our partnership with our different parents, continuing to spread advocacy, and focusing on how we can improve a child’s life who has Pompe disease.

Why people like working with you: I’m not a business person or a person that’s focused on this for other reasons. I’m doing this foundation because it’s affected my life. It’s affected my son’s life. I’m a mom, I’m a nurse. I’m just looking to make a difference for my son and for others like my son. I think that makes other parents want to join in and do the same thing.

Mentor: I have been flying by the seat of my pants. We’re a small organization. My brother Randy Marble has been a huge help. He’s the business part of this entire organization, helped me set up everything, running all of the business parts of it for me, and connecting me with others who are business-minded to help me. Another person, Sara Soto, has been our web designer. She is my go-to person when I need designs or logos for upcoming fundraisers. She always donates her time to help us out.

On the Job
What inspires you: Other kids just like mine. I am always so inspired and amazed by what these children are able to do, and how, even with a horrible disease impacting everything they do in their lives, they are happy, bright, and just incredible.

What makes you hopeful: What makes me hopeful is all of the different companies that are looking into Pompe disease. There’s been a lot of interest in trying to correct the defective enzyme and fix that with gene therapy. That gives me so much hope because if we can correct that, then we can stop the symptoms of Pompe disease and stop its progress.

Best organization decision: The best organization decision for me has been joining with another mom, Colleen Sackos.  She also has a child with Pompe disease who is about a year younger than my son. Together we have been able to double our fundraising efforts by being able to network and make our fundraising bigger. It’s been a wonderful partnership.

Hardest lesson learned: The hardest lesson learned has been all of the web design and trying to figure out the business part of it. I’m not a businessperson whatsoever. I’m a nurse and a mom, so business does not come natural to me. I’ve had to read a lot of books and ask a lot of questions about how to conduct board meetings and how to form a foundation because I wasn’t aware how any of that worked. I’m really proud of how far we have come.

Toughest organization decision: Deciding on where funds go for different organizations has been the toughest decision. We like to donate to more than one place and support more than one entity. We want to spread it out. Just trying to find the different entities that are already involved in researching and finding new treatments for Pompe disease has been the toughest part.

Biggest missed opportunity: I’m not full time with this foundation. I’m still working as a nurse. I wish that I could do this full time and be able to put all of my time and effort into our foundation to grow it and add more people to our board. We would be able to make a much bigger impact by doing that, but at this time, that’s impossible with me working and having little kids in the house. I hope to do that one day.

Like best about the job: What I like best is supporting other families. We’ve had the opportunity to provide travel assistance for people to get to doctor’s appointments, or money for parents who have children in the hospital who need help with bills, travel, hotel, or whatever. What’s most rewarding is the direct help that we give certain Pompe patients when they need it most.

Like least about the job: What I like least is how much time and effort it takes to organize events. A lot of detail goes into planning even small events. Luckily, we have a great team who works really hard to make sure we get everything together.

Pet peeve: My pet peeve is things being late or delayed. That drives me a little bit crazy. I like to have a plan laid out months in advance so our events can be as smooth as possible.

First choice for a new career: I love being a nurse. I don’t think I would change my career. I do all of the central line care–port access as well as de-accesses. I do chemo. It’s very meaningful for me to have that one-to-one contact with patients. It’s also given me the chance to be my son’s nurse at home. I’m able to do all of his infusion and medical care, allowing us to avoid weekly hospital trips.

Personal Taste
Most influential book: Mere Christianity by C.S. Lewis—really anything by C.S. Lewis

Favorite movie: Extraordinary Measures

Favorite music: ‘90s and ‘00s country

Favorite food: Italian food—anything with pasta

Guilty pleasure: White wine

Favorite way to spend free time: I love to go on hikes and go waterfall chasing with my family. Oregon has tons of waterfalls.