The Expected, Unexpected: Q&A with Jason Madison, Hunter Syndrome Patient Advocate

We sat down with Jason Madison, Hunter syndrome patient advocate and member of Lumanity’s Patient Council, to talk about his experiences living with the rare disease. Jason sits on the board of directors for the MPS Society and is a charter member of its Adult Resource Committee.

When you think about yourself, how would you describe your superpower?

I’ve been told by people that my superpower is that I can make friends anywhere. You can sit me somewhere and, all of a sudden, I’m making friends with everyone. I was really good at it when I was going to bars and shows a lot – sitting down, making friends with the bartender, and whoever’s sitting next to me. I think it came from moving around a lot and from experiencing bullying when I was younger, it was a way to make friends and form a little tribe around me to offer protection.

If you were going to write a biography or have a biography written about your life, what do you think it would be titled?

The expected, unexpected. Nothing in my life has gone as I expected, to the point that I should expect that. It’s not always bad, though, and might even end up good – just in an unexpected way. When I was younger, I tried to ignore everything to do with my disease and focused on performance; being regular and being on stage. Though I didn’t become a rock star, I’m able to use those skills and that confidence to do the things I do now. I speak a lot at conferences, some of them international, and speak at pharmaceutical events in front of a lot of people. I can use my talent of connecting with people on stage and being comfortable up there to spread the message of other people with mucopolysaccharide (MPS) disorders and of the MPS Society.

How was your journey to diagnosis and treatment?

I was diagnosed with MPS II, otherwise known as Hunter syndrome, when I was 3 and a half years old. My story is a little different as my family can trace it back for four generations, before they even knew what Hunter syndrome was. We only know this because we can look back at old family photographs and know the old family stories. My uncle was the one that was diagnosed in the 1960s at a Shriner’s children’s hospital. When my mother started seeing some of the physical manifestations when I was little, she thought “I think he’s getting what my brother has,” and after that I had genetic tests to confirm.

Our experience wasn’t the same as it is for a lot of others – I’ve known many adults who were misdiagnosed, either with a different MPS syndrome or something else altogether, only to be diagnosed with Hunter syndrome in their forties. This meant there was unexpected benefit in our family history. When seeking diagnosis, it helped a lot that my mother could say “I think he has Hunter syndrome” as it focused the doctor’s attention, rather than the scatter shot of describing symptoms.

Hunter syndrome is currently treated with enzyme replacement therapy. That wasn’t approved for use until 2007, so I was in my 30s when it became available. It’s a good treatment but it doesn’t hit all areas – it doesn’t cross the blood–brain barrier or into the bones. But it’s better than nothing. The kids who have been able to start on it much younger have seen more benefits from it. Hopefully the new treatments coming along will be even better.

When you think about your experience, what do you want people to know?

I’ve talked with other adults with MPS about this, and one thing is that we’re stronger than a lot of people give us credit for. It’s okay for us to be pushed a little. A lot of parents want to protect their kids, and we will need help, but we’re not delicate Fabergé eggs. We all want to experience and have a life purpose as much as we can.

As I’ve gotten older I can’t quite keep up as much physically. Even though we have treatment now, it’s not 100%. I have mobility issues and I get sicker easier, and my eyes and ears are going a lot quicker. That is a challenge, and I think there might be a little bit of cognitive issue even though I have an attenuated version. Hopefully some newer therapies will slow that progression down.

I know a lot of parents who have children with more severe Hunter syndrome who are non-vocal. The parents come to me and ask questions because I can express how things feel that their children cannot share. I try to honor that as much as I can, though everybody’s different, of course. It’s a heavy position to be put in, but I’m learning to deal with it and accept it because it’s important for families and parents to have that communication. I think I am helping to speak for these kids who can’t speak for themselves. I’m able to communicate well and I’m very approachable, so it provides some insight for the families and comfort for the parents, because having a child with a rare disease can be very difficult.

How do you feel about Rare Disease Day and being part of the rare disease community?

The National MPS Society tends to focus more on National MPS Day in May, but I like the idea of being part of Rare Disease Day. If you count all the rare diseases, we’re not that rare. It’s a very underrepresented population out there and I like being part of that. Though Rare Disease Day isn’t focused to my specific disorder, it shows we’re stronger together. One grass leaf flops when you wave it, but if you get a bundle of them, they’re firm.

A lot of treatments that have developed for different disorders come from other rare diseases. The original enzyme replacement therapy, for example, was for MPS I. Once they (scientists) figured it worked for MPS II, it was easy to develop a similar treatment for MPS II. It helps show that we’re all in it together.

Even if our voice is a little smaller than some other disorders, it’s still good to be a part of the movement. The 2020 Netflix documentary Crip Camp was so inspiring. They don’t talk about Hunter syndrome or MPS specifically but just seeing the work some of these people are doing for our benefit.

In the rare disease community, we have a lot of similar issues that we’re all just trying to overcome. Things as simple as transportation and medical questions to just trying to be as much of a “human” as possible and finding purpose in life. Nobody wants to be a pile of goo sitting in the corner that people are poking at. You want to be a helpful piece of goo. When the community comes together, we all see a lot of benefit. A good example of that is on the MPS Society’s Adult Resource Committee: we do adult-centric side conferences and a couple of years ago someone suggested that we do an exercise class. We found someone with cerebral palsy who is a CrossFit certified trainer. Her class was fantastic as she knew exactly how to cater the exercises to different abilities. We’re joining this wider community that includes cerebral palsy, MPS, and other disorders, but we’re all together. We can discuss and look out for each other and for mental health as well.

Is there anything else you want to say about having Hunter syndrome or a rare disease more generally?

I’m almost fifty, so I’m at the point of having some mid-age reflections. I do think about what my life would be like if I didn’t have my disorder. A lot of times I prayed, “I don’t want it. I hate it.” And I think about how different my life would be – I probably would have joined the military or gone into sports instead of arts and creativity. That’s how I think about it, anyway.

But then I think about what if I did, I would have missed out on so many amazing things that I did experience because of the decisions I made that were directly related to me having Hunter syndrome. Especially some of my days in New York and seeing the creative people there; just moments like that. I think about some of the people I’ve met and things I’ve done, and I think “would I really be willing to give that up?” If I was younger, I would have said “yes.” But on reflection now, I would have to think about it. I have been blessed with some amazing experiences like being in a pirate band. We got to perform for the 100^th anniversary of the Staten Island Ferry dressed like pirates.

I play acoustic guitar for the pirate band, but I’ve also been in a lot of rock’n’roll bands. I wasn’t great at playing because of the mobility issues in my hands, but it made me develop a style of playing that made people interested in what I was doing. I was accepted as a peer by some of the most talented and creative people. I’m really grateful for that. It’s pretty cool.

“Though I didn’t become a rock star, I’m able to use those skills and that confidence to do the things I do now. I speak a lot at conferences, some of them international”

“When seeking diagnosis, it helped a lot that my mother could say “I think he has Hunter syndrome” as it focused the doctor’s attention, rather than the scatter shot of describing symptoms.”

“I think about some of the people I’ve met and things I’ve done, and I think “would I really be willing to give that up?” If I was younger, I would have said “yes.” But on reflection now, I would have to think about it.”