A dad found out he has been living with a rare incurable disease for 35 years when he put his son through genetic testing — after dismissing his aches and pains for aging.
Robin Schultz, 35, and his wife, Brooke, 33, realized their son Noah, now two, wasn’t hitting his milestones and discovered he had low muscle tone.
The parents decided to put little Noah through genetic testing to get more of an answer – and had their own blood tested to do so.
Noah’s results came back inconclusive but Robin was given the shocking news he had Fabry disease – a disorder which can lead to heart failure, progressive kidney disease, and stroke.
Previously, Robin said he would get the occasional ache and pain, which he put down to aging – and nothing sinister.
Now the dad-of-two suffers from pain daily and requires an army of medical staff to monitor his condition.
The couple also found out that their daughter, Zipporah, ten months, is also a carrier of Fabry disease, but Noah is still undergoing genetic testing.
Robin, a software engineer from Spokane, Washington, said: “The news was shocking to say the least.
“I spent the next 20 minutes frantically researching a disease that I have never heard of.
“It threw in a lot of uncertainty. At the time, my wife was pregnant with Zipporah.
“They told us that if our baby were a daughter, there was a 100 per cent chance she would have the same condition I have because the disease passes through X chromosomes.”
Noah was born in January 2023 with floppy baby syndrome, and his parents noticed that he wasn’t hitting his developmental milestones.
He wasn’t walking, sitting up or rolling over like other children his age.
After raising concerns with their pediatrician, Robin and Brooke decided to try physical therapy.
Robin said: “The physical therapist told us that Noah had low muscle tone that inhibits his ability to do what a child his age can.
“We started asking the question, what is going on, and maybe there was an underlying genetic thing that was causing the problem.”
In February 2024, Noah began exome testing at Children’s Mercy in Kansas City.
Because the results might show inherited factors, Robin and Brooke also had blood drawn.
While they waited, the family made a major move to Spokane, Washington, convinced it would give Noah the best care.
Then, on July 30, 2024, came the call saying the genetic test results were in.
“The geneticist came into the room with a panicked look on their face,” Robin said.
“They sat down, looked at me and said, ‘We have something very serious we need to talk about’.
“I was shocked. ‘Did they find cancer?’ ‘Am I dying?’ I thought.
“That is when they told me that I had tested positive for Fabry disease, and Noah’s results were inconclusive.”
Fabry disease is incurable but can be treated, so Robin is currently taking daily medication and is supported by a team of doctors to slow the disease down.
Robin said: “One of the things about the disease, it also messes with the brain.
“I have Fabry fog, where memory is hard for me. It comes and goes – it is temperamental.
“I have problems with memory, as well as fatigue.
“I am pretty much in constant pain. Over the last few months, I have been in a lot more pain than I have ever been.”
Noah is still undergoing genetic testing, and Zipporah is due to start tests and treatment.
To cover the costs of treatment and travel, the family have set up a GoFundMe.
Robin said: “I am eternally grateful, I really am, it is so great to see the community come around like that.
“I am also grateful for my wife, Brooke, who has been our rock through the midst of all this.
“Not only does she deal with a husband who can’t be of any use, but she also has to deal with two children who need constant doctor’s visits.
“She is our trooper, she is rock solid, and she is wonderful.”
