HOPKINS, Mich. -- Remington Veldheer's genetic disorder is so rare, he's only one of seven in the world.
While the average person has more than 20,000 genes, typically about a dozen genes are mutated. Some of them are more apparent than others. Remington's mutation of an important gene called ARID2 affects his physical and mental development. He's 2-1/2 years old, but he behaves like a one-year-old.
His mom, Jessica Veldheer, says Remington (Remi) can't walk unassisted, he can't talk nor eat. Remi can say some words, like "Hey," "Bye" and "Stop."
"He wants to, but he can’t," Veldheer said.
It took genetic testing and research before clinical geneticist Dr. Caleb Bupp diagnosed Remington with the gene mutation that has not only led to his developmental delays but to cerebral palsy and autism.
Remington Veldheer
Dr. Bupp, from Spectrum Health, believes Remi's symptoms might be part of a syndrome called Coffin–Siris syndrome, which is better known than ARID2.
Any kind of diagnosis is a relief for the Veldheers. Dr. Bupp said it helps families to know the problem.
"The cool thing you get with some of these families is when the testing results come back they’ll look at you and say 'thank you, I have understanding now,'" Dr. Bupp said.
According to the Veldheeers and Dr. Bupp, there is another person with this same genetic mutation living in Lansing. They are hoping to connect with that family in the hopes of giving Remi a friend who is just like him.
