As a society, we celebrate birthdays, anniversaries, and births. Some celebrate when their son or daughter goes to college or gets married. Others might do a happy dance when their team wins the World Series or Super Bowl. Personally, I celebrate the day I was diagnosed with a rare disease.

Imagine getting ready for bed at night. You sit down on the side of your bed with your feet touching the floor. The bedspread and sheets are turned over already, and you lie down on your mattress flat on your back. In that instance, you gasp for air and the…

Things seemed to be happening so fast as 2018 was ending. But it would go down in my books as the worst year of my life. Seven months earlier, back in April, we lost our oldest son, Adam, to a brain tumor. He was only 22 years old and full…

When I was a kid growing up, my mother used to say I was husky. I wasn’t very active, and I rarely found myself exercising. You definitely would not call me athletic — I never could do a pushup, situp, or pullup like the “normal” kids. It was just the…

I was sitting in the small waiting room at UCI Health’s ALS & Neuromuscular Center, in Orange County, California, early on a Monday morning. The date was Nov. 19, 2018, and as I waited for my name to be called, I thought back on the previous six months and…

I remember the day vividly. It was an overcast morning on Saturday, Nov. 17, 2018. My wife and I hopped in the car and headed north toward Marina del Rey, California, giving me an hour to contemplate all the thoughts racing through my mind. A few months earlier, my neurologist…

Note: This story was updated July 13, 2022, to correct the name of Rare-X’s CEO Charlene Son Rigby. Nonprofits, scientists, governmental organizations, and the rare disease drug development industry have long cited 7,000 as the average number of rare diseases in the world.

When you have a child, you have so many concerns and thoughts. One came up soon after I had my son, Cayden, four years ago. He was diagnosed with infantile-onset Pompe disease at just 1 month. At the time, I had no clue whether I wanted others to know his…

The prevalence of late-onset Pompe disease (LOPD) in people across the U.S. and in Montreal, Canada, who lack an official diagnosis but have its characteristic neuromuscular symptoms — including neck and proximal muscle weakness or elevated creatine kinase levels (a marker of muscle damage)…

I will always be grateful I found our Pompe disease family. It brings me great joy when others find us and join the community, too.  A Facebook blog I made for my 3-year-old son, Cayden, started off fairly small. But over the…