Robin Schultz (35) found out out of the blue that he was suffering from a rare incurable condition. Although he felt pain, he considered the health problems to be a consequence of aging. , doctors soon discovered that his disease could lead to heart failure, kidney damage or even a stroke.
- Father Robin Schultz found out that he suffers from incurable Fabry disease.
- The son’s genetic analysis revealed a specific genetic predisposition of the family.
- Fabry disease affects multiple organs and requires regular treatment.
- The parents found out that their daughter also suffers from the disease.
Robin and his wife Brooke noticed that their son Noah’s development was a little slower than other children. After consulting with the pediatrician, they decided to try physical therapy, where they discovered that he had low muscle tone. “We started to wonder what was going on and if there was a genetic problem behind it,” Robin said.
In February 2024, the parents took Noah to a specialized Children’s Mercy clinic in the American city of Kansas City. There, he underwent exome analysis, a type of genetic test that can reveal hereditary factors and predispositions. Robin and Brooke also decided to take the test.
A few months later, Robin received a phone call that surprised him. Although Noah’s results were mixed, Dad diagnosed with Fabry disease, a rare inherited disorder that can lead to serious health problems. “The news was very shocking. I spent the next 20 minutes frantically searching for information about a disease I had never heard of,” commented Robin.
The couple subsequently discovered that their ten-month-old daughter Zipporah was also a carrier of Fabry disease. “We were told that if our baby was a girl, there is a 100% chance that he will have the same condition as me because the disease is transmitted through the X chromosome. It brought a lot of uncertainty. At that time, my wife was pregnant again,” he added.
Fabry disease is incurable, but its course can be corrected. Robin is currently on medication and is being monitored by a team of doctors. “The problem is that it also affects my brain. I have memory problems and also fatigue. I’m in pain almost all the time. I’ve had more symptoms than ever in the last few months,” Robin pointed out.
Expensive treatment forced parents to created a fundraiser on the GoFundMe page. “I am extremely grateful that people decided to help us. I am also grateful to my wife, Brooke, who is my support. Not only does she have to take care of a husband who is not very helpful, but also two children. She’s our fighter, she’s rock solid and she’s amazing,” Robin concluded.
