diagnosis

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…

Adults with late-onset Pompe disease in the U.K reported a long and distressing diagnostic process, with most patients calling in interviews for a reduced time to diagnosis, a shorter wait for a specialist appointment, and an earlier treatment start, a study found. At diagnosis — which often came only…

On Feb. 27, 2018 at 5 a.m., my son, Cayden, entered the world. I had a fairly normal pregnancy, so nothing could prepare me for the events that occurred once he was born. While some of it is a blur, I can still remember the chaos in the room at…

Four new mutations in the GAA gene have been identified in a group of people with late-onset Pompe disease (LOPD), according to a study in Spain. The study “Genotype–phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants” was published in the Orphanet…

One of the first tests my son had as a newborn was called a newborn screening test. This simple yet important blood sample is what started our journey with Pompe disease. The disease was added to Pennsylvania’s newborn screening panel one year before Cayden…

When you hear the word “family,” who do you think of? Most people think of their immediate family and relatives, such as parents, siblings, grandparents, aunts, uncles, and cousins. However, this word means so much more to me. After a rare disease diagnosis, we often…