A rare disease has run through five generations of his family, so he’s built community for others

For Jack Johnson, getting diagnosed with Fabry disease at age 7 was more of a formality. He’d been experiencing symptoms for several years already, and had watched multiple family members struggle with the rare condition. But around 7 was when Johnson’s pain started — triggered by exercise or being outdoors when it was too hot. Fabry disease is characterized by a buildup of the fatty lipid Gb3, which can cause gastrointestinal issues, kidney failure, stroke, chronic pain, and dangerous heart abnormalities.

Often, people with Fabry disease can’t sweat, making it difficult to regulate their body temperature. That was especially true for Johnson, who grew up on his family’s dairy farm in Bakersfield, Calif., in the oft-scorching San Joaquin Valley. He was tasked with caring for the pigs, cooling them down in the midday sun.

“You’ve heard the expression, ‘Sweat like a pig.’ Well, most people don’t know, but pigs do not sweat,” he said. “When I was getting too hot, we also knew that the pigs were getting too hot.”

As part of the fifth generation of his family with Fabry, which is inherited via the X chromosome, he figured out how to avoid triggers. Decades passed and Johnson never met another person outside of his family with Fabry. That’s until 1996, when he decided at the urging of one of his doctors to start an online community, the Fabry Support & Information Group. A husband, small farmer, and father to two sons, Johnson has watched over the past two decades as Fabry got therapies and increased recognition, but he says there is still more to do.

STAT spoke with Johnson about his advocacy work, the realities of living with an inherited and rare disease, and more. This interview has been edited for brevity and clarity.

What do you remember about being diagnosed with Fabry?

My mother saw it in me when I was 4, and the first thing I really recall is talking to a doctor when I was 5. He said that he thought I probably had it, but he didn’t take care of kids. At that point, I knew I had it but I don’t recall learning that I had the disease — it was just kind of always there. I got my diagnosis when I was 7 at UCLA. That I definitely remember, going in and going through all of the testing. It was kind of a formality.

At that point, was your family aware that several relatives had Fabry?

Everybody knew. My grandfather was the first one diagnosed and that’s when I was 1. And he had four brothers, and four of the five boys had Fabry. So my mother knew what to look for.

When you were growing up, there were no treatments for Fabry. Did you have to adjust to avoid things that were risky, or that might trigger your symptoms?

I was OK until second grade. In first grade, I won ribbons and things like that, doing track and field at school. But when I turned 7, that’s when the pain really started. And it was oftentimes brought on by physical exertion or getting too hot. And so, yeah, that knocked me out of being able to participate in track and field. P.E. was difficult for me most of the time, and I wasn’t able to do any kind of team sports like baseball or anything like that because it was in the summer and it was just too hot. When I got into junior high, I didn’t have to do P.E. anymore, but they didn’t know what to do with me. So I had to go with my class and just, like, sit on the bleachers and watch everybody else do their thing.

How did your family talk about Fabry, if you did?

We didn’t talk about it a whole lot except to say that there were things that I couldn’t do. I had to do things early in the morning or late in the afternoon when it was hot. We raised cattle and hogs. And one of my jobs during the middle of the day was to keep the hogs cooled down, going out with water hoses. And I could spray them down and spray the water straight up into the air on me, and back and forth.

What kind of work were you doing before you got into advocacy?

We got a farm of our own, and I just couldn’t continue that lifestyle as much as I really loved it. So I knew I’d have to get an office job. And art was the only thing that I was much good at, and I liked computers. So I went to college for graphic design and got working on computers. I ended up being an application developer for [former IBM software] Lotus Notes, building custom applications for customers.

At what point did you finally decide to take that doctor’s knowledge and start the group in 1996?

When I would go to the hospital, they would put me through a weeklong battery of tests and I would take a computer with me, a laptop computer. I would be working in my room, and the doctor saw me working in there, and he knew that anybody that would tackle something like this would need computer skills. I think that’s what prompted him to really push me.

I didn’t know what in the world having a support group meant. And we got absolutely no direction on what was needed or what to do. My wife and I found out that support groups would publish newsletters about education on the disease. And we thought, well, we should be able to do that. Since I had my computer work, I was able to put together a small website, and right away people started finding it. It really took off from there. We started off with less than 20 names, family members [with Fabry] that we had addresses for. And now we have, around the world, probably over 1,700.

In 2003, the FDA approved the first treatment for Fabry, an enzyme replacement therapy. What are some other big breakthroughs that stand out in your memory over the past 25 years?

Really, one of the biggest ones was the recognition that women can suffer from the disease and that women can suffer just as bad as the men. Then, having a pill treatment developed was a huge thing. It doesn’t work for everybody, but it does work for a good percentage of the community. Having that option is amazing. Now we have a second ERT that’s approved in the United States. The work that’s been done to try and prevent the buildup of the Gb3 that builds up in our cells, that’s amazing. Hopefully that will become a viable therapy.

And then, of course, gene therapy that’s being worked on right now. That would be such an incredible convenience, not having to have infusions all the time or take pills all the time.

Some people with genetic conditions struggle with the decision of whether or not to start a family or how to do that, and how to have those conversations with prospective partners. Was that a concern for you?

Yeah, it was a decision when I was dating: At what point do you tell someone that you have this disease? For family planning, yeah, it was a big concern for me. I’d been going to New York for research workups periodically. The doctors were telling me that they were working on a possible treatment. And they said, “You don’t have to worry because you’ll pass it on only to your daughters, and they won’t suffer from it.” That was the understanding at that time. With the grandsons that I may end up with, which would be well into the future, they said, “Well, we’ll have a treatment out certainly by then.”

Fortunately, I had two boys and so I did not pass that condition on. When our second child was a boy again, I told my wife, “We’ve got to stop here.” It just wasn’t worth the risk to me to have a daughter, because at that point I was seeing that women suffered from the disease genuinely.

That’s heavy, to have to consider what generations in the future might deal with based on your decision-making.

For myself, it stops with me. I have a cousin that had three daughters, so it continues on his side of the family. Yeah, as you say, those can be heavy discussions. But what I do is try and help those people as much as possible, to help them make sure that they understand the disease so that they can get appropriate medical care. The disease affects everybody differently in many regards and people have to be able to make their own decisions. We just try to give them the information that they need to be able to do that.

Want to share your story of living with a chronic illness? Email [email protected].

STAT’s coverage of chronic health issues is supported by a grant from Bloomberg Philanthropies. Our financial supporters are not involved in any decisions about our journalism.