Although this post is not about tractors, it is about someone in our tractor family. We are posting this story today to help bring awareness to Phelan-McDermid Syndrome today on Rare Disease Awareness Day.
On June 10, 2016 Krystle Howell (CSR) delivered a beautiful boy. Dominik Brady Howell was born nearly a month early and weighed only 5 lbs 10 ounces. Immediately after delivery the doctors and nurses saw a red flag, Dominik’s arms and legs were very thin and had low muscle tone. They ran genetic testing and 3 weeks later the results came back that Dominik had Phelan-McDermid Syndrome. It was a complete shock as Krystle and Andy had no idea thru her pregnancy that there were any problems.
Phelan-McDermid Syndrome (PMS) is extremely rare, it affects about 1 in 5 million. It is sometimes called 22q13 deletion syndrome. It is caused by the deletion of the terminal end of chromosome 22 or the mutation of the SHANK3 gene. Most cases are not inherited but results from a de novo (spontaneous) mutation. In Dominik’s case it was completely spontaneous.
Most people affected by PMS have cognitive delays as well as physical and health issues. Dominik has hypotonia (low muscle tone) which is a main issue for people with PMS. The future is a huge unknown, Dominik’s family have no idea if he will be able to speak or walk or function on his own without help, as it is such a variable syndrome. They have him in physical therapy to work on muscle strength and work with him daily to help him learn how to roll over, sit up on his own, hold his head up and learn to crawl.
Dominik’s mother Krystle said “Since birth Dominik has been hospitalized twice due to issues breathing, which could be caused by the hypotonia when he gets sick. He has already stolen our hearts and is such a little fighter. He lights up when he sees his big sister Danika and his smiles make you smile just as big. He has an uncertain future but we are all fighting to give him every advantage we can.”
For more information on Phelan-Mcdermid Syndrome visit the Phelan-McDermid Syndrome Foundation.