Penelope shared her first-person story for Marfan Awareness Month.
Hi! My name is Penelope Robles and I’m from the Philippines. This is the story of my 4-year-old daughter, Destinee Jaye, who was diagnosed with Marfan Syndrome when she was two months old.
It was the usual routine check-up when her pediatrician noticed her fingers were unusually long for a baby her age. So, we were asked to be checked by a cardiologist, pedia neurologist and genetics pediatrician and ophthalmologist. When all were done, it was confirmed she has Marfan Syndrome. It was also distinct that she has most of the physical attributes. Aside from that, we were also asked to consult with her developmental pedia because of delays with her milestones. She was diagnosed with GDD (Global Developmental Delay) and mild ASD at the age of two years old.
Here in the Philippines, it is not common to have this condition it is quite rare. We were just grateful that some doctors here do have knowledge about Marfan and Destinee was treated accordingly. When we learned about Marfan Syndrome, I immediately researched about it and of course it saddened us as parents but she is a blessing to us, and we just continue her monthly and yearly check-ups and all is well.
Destinee is just a happy kid full of life and love and it does not even bother her to have doctors check up on her. She is gradually improving in her communication and social skills through therapy.
Thank you for this opportunity to be able to share the life of my four-year-old with Marfan Syndrome.
To share your story for Marfan Awareness Month, email brandcomms@marfan.org
To learn more about early-onset Marfan syndrome, visit: Neonatal Marfan Syndrome | Signs of Marfan in a Newborn
Need support? Try out our free, virtual, no-commitment support group: Support for Parents/Guardians of Children with Early-Onset (Neonatal) Marfan Syndrome – Marfan Foundation
To participate in a study about Neonatal Marfan Syndrome, learn more: First Comprehensive Neonatal Marfan Study | Neonatal Marfan
Visit a site by and for families living with neonatal Marfan syndrome: Neonatal Marfan Syndrome: A Message of Hope
The Marfan Foundation is a nonprofit organization that saves lives and improves the quality of life of individuals with genetic aortic and vascular conditions including Marfan, Loeys-Dietz, and Vascular Ehlers-Danlos syndromes. Our vision is a world in which everyone with genetic aortic and vascular conditions can live their best life.