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When Vanessa and Luis welcomed their son, Chris, to the family, they recalled everything going smoothly from pregnancy through the first few months of his life.
“I had a healthy pregnancy. I did all the proper testing, and nothing would come up.” Vanessa says. “He was born three-and-a-half-weeks prematurely, but he was born healthy – it was a healthy delivery.”
But starting when Chris was about 4 months old, his parents noticed he lacked strength in his back, had trouble controlling his head and wasn’t meeting his developmental milestones. After months of medical appointments, tests and X-rays, Chris was diagnosed with mucopolysaccharidosis IVA (MPS IVA), also known as Morquio A syndrome.
“When we got Christopher’s Morquio A diagnosis, to me at the time, it was every parent’s worst nightmare – to hear that your child is going to have this condition for the rest of their life, and there is no cure,” Vanessa recalls.
Genetic specialists helped guide Vanessa and her family through the unknowns and concerns that come with an MPS IVA diagnosis. The family’s health team came up with a plan to manage his condition and help Chris take on the day-to-day challenges of living with MPS.
Vanessa says working with the care team on the right plan for Chris has helped him remain an active and happy kid. He enjoys spending time with friends, being outside, playing basketball, riding his scooter and playing video games. Chris acknowledges that when he plays hard, he gets tired or sore and needs to take a break, but he doesn’t let the physical challenges of MPS IVA stop him.
“It’s really difficult living through it, but I never give up, and always have a positive attitude,” Chris says.
Vanessa notes that Chris’s outlook on his condition is a daily source of inspiration for the family.
“We look at Chris and we see how positive he is about this whole journey of having Morquio A,” she says. “It’s given us a lot of strength and hope.”
• Topics:
• Community
• MPS
• Patients
• Rare Disease