Living With a Rare Disease: J.J. Shares His Story

Just by looking at him, you wouldn’t know anything is wrong with J.J., a hip-looking, tattoo covered, 30-year-old artist and coffee shop owner who easily fits in among the locals in his home state of Colorado.  Spend a few minutes with him, though, and you quickly begin to understand what life’s been like living with the rare disease, acid sphingomyelinase deficiency (ASMD).  ASMD is also known as Niemann-Pick disease types A and B. The non-neurological form of ASMD, Niemann-Pick disease type B, is a serious and potentially life threatening disease due to the impact it can have on the lungs, liver, spleen and heart. 

ASMD symptoms can vary in each person.  In J.J.’s case, the symptoms of his ASMD are not visible to most people. But, doctors noticed right away when J.J. was born that he had an enlarged liver and spleen starting him on a three-year odyssey of countless tests and multiple doctors to find out what was wrong with him. “My first memory was getting the liver biopsy and the adults trying to coax me into being comfortable, coax me into the giant needle going into me,” J.J. recalled. “They tried really hard to make it comfortable – it wasn’t.”  J.J. clearly remembers being scared and not understanding what was wrong with him.  Finally, at the age of three, a skin biopsy revealed that he had ASMD. 

Growing up, J.J. would get intense migraine headaches and he had back pain because of his enlarged spleen and liver. What bothered him most, though, was the list of things he could not do.  “I wasn’t supposed to ride a bike, play soccer, football, hockey, rollerblade; any of the things that I really loved. So basically it was just a long list of nos.”  ‘No’ wasn’t a word any typical kid wanted to hear, but especially for J.J. who openly admits to being a rebellious teenager.  In those years, J.J. often ignored the limitations placed on him by his parents and doctors.  

Three years ago, J.J.’s disease started to become more evident with age, presenting new symptoms, and causing him to once again, confront a list of things he can’t do.  “I would walk up a flight of stairs and just be absolutely winded and all of these simple things that I could always do, I just couldn’t do them anymore and it was really humbling,” J.J. said, describing what life with ASMD is like today.  “I like to ride motorcycles, I like to make art, I like to go out on walks and go to concerts and stuff, and we’re in Colorado so the air is pretty thin and I just noticed it.”

Dealing with this newest round of symptoms and the limitations they cause has been a notable turning point in J.J.’s life, one that has motivated him to make some big changes, including thinking about his personal relationships and plans for the future.  

“When I had that turning point at the age of 27 roughly and I realized that my life was not going to look the way all of my friends’ lives were and the way that society told me my life should look I was in a relationship and I was thinking of having kids, I was thinking of proposing, and that was a hard pill to swallow that if I do that this person is agreeing to a life with somebody who - well, it’s going to be different.”  Not wanting to burden others with his disease progression, J.J. has chosen not to get married or have children, choices that, when he explains it, clearly didn’t come easy. 

While J.J. has made some tough decisions about his future, he’s also taken the time to think about how he could use his life to make a meaningful impact on the community.  Part of that includes talking more openly about his disease and connecting with others in the ASMD patient community.  “Most people didn’t know I had Niemann-Pick. I wouldn’t talk about it to my friends because I don’t look like I have a disease, so it just brought more questions than I had answers to.” In the end, though, J.J. realized that talking about his experience and telling his story could help others who are also living with this rare disease feel less lonely. “It’s important for me to tell my story here because I felt really alone as a kid and I feel really alone as an adult.”

Becoming a more active member of the ASMD community has helped J.J. feel less alone and has made him grateful for the life he is able to live. Connecting with other patients has opened his eyes even more to the progression of his disease.  J.J. knows that there are people more severely affected by ASMD than he is. He hopes by connecting with some of the kids affected by ASMD, he can share his positive attitude and provide a sense of hope for the future.

Today, J.J. tries to participate in life as much as he can – making art, coffee and contributing to the community. He focuses on living in the moment and sharing his story with the goal of helping others. “I pray and I meditate a lot on the privilege that I’ve had to be so able-bodied and to be so normal, and other than that I try to be of service,” he said. “I try to focus on other people’s stories, on other people’s experiences, on other people’s pain and their process. I try to be there to support my community.”