MIAMI – According to research, rare diseases currently affect an estimated three hundred million people worldwide.
One such condition is often difficult to detect and as a result, may be under diagnosed.
Martha Castillo and Avi Grant-Noonan don’t know each other but they do have something in common.
Each has a child with a rare condition called Phelan-McDermid Syndrome.
“We were lost what is this syndrome at the time there were only one in 700 people in the world diagnosed with this syndrome,” Castillo said.
“We were told she was not going to survive her first year,” Grant-Noonan said of her now 15-year-old daughter Denavi.
Symptoms of Phelan-McDermid Syndrome include muscle weakness, seizures, speech and developmental delays, and particular physical features.
Dr. Parul Jayakar, a clinical geneticist with Nicklaus Children’s Hospital said it’s caused by a chromosomal abnormality or a disease causing variant of a specific gene.
“The clinical picture we see with patients is related to missing this gene, lack of this gene and-or if there is a mutation of this gene where there is a change in the amino acid or the protein of this gene so you can have either of these two and have this syndrome,” Jayakar said.
Castillo’s son and Grant-Noonan’s daughter both require round the clock care.
“I have to bathe him I have to feed him to the point where, I’m a teacher, I had to leave my career after 16 years just to be his full time caregiver,” Castillo said.
“She’s recently started getting seizures so we’ve been working on that, that’s kind of all be hormonal her seizures so we’ve kind of got that under control,” said Grant-Noonan.
But both moms are hopeful that ongoing research will lead to medications that could improve the quality of life for their children.
“So things are moving and I hope that in Matthew’s lifetime, he’s only 10, there could be some treatment or cure for him,” Castillo said.
“She’s the reason why we’re all here. She’s been the light of my life you could say,” Grant-Noonan said of Denavi.
Scientists estimate about one percent of people with autism spectrum disorder may also have Phelan-McDermid Syndrome.
To learn more go to: https://pmsf.org/