3 years old
Mansfield, MA
Warrior #235
Growing up, we would joke about how making a wish at 11:11 meant that wish would come true. So on November 11th, 2022, our wish for a beautiful happy boy was granted with the newest addition to our family, Felipe.
Felipe has a contagious laugh and smile, and inspirational perseverance. His health concerns started with digestive/feeding issues, missed early milestones, and nystagmus. Perhaps even more concerning, he had no interest in playing or interacting.
We got him every therapy we could through Early Intervention. At one point he had occupational therapy, physical therapy, a development specialist, a speech and language pathologist, and a teacher for the visually impaired, all making trips to our home to help our Felipe.
It was the Neurologist and Genetic Counselor at Boston Children’s Hospital that convinced us to spring for the whole exome sequencing, which was not cheap even with decent insurance. We got the SYNGAP1 diagnosis electronically, and less than a minute later we found CURE SYNGAP1 (known at the time as the SynGAP Research Fund).
The diagnosis let us put a name to the struggle we have been facing. It led us to community. It led us to the PROMMIS Natural History Study at CHOP (Children’s Hospital of Philadelphia) where we got advice from doctors that have seen other Syngapians. It gave us a glimpse into our future, which helps us prepare.
Felipe is almost 4 years old, and has yet to have a seizure to our knowledge. However, we know that onset is generally between ages 3 and 5, so we are not out of the woods yet. We know to expect worsening behavioral issues as he gets older and his cognition improves. We will face those challenges as they arrive, just as we’ve faced every challenge so far, with the love and support of our family and our community.
Felipe has been making slow but steady progress, particularly in his gross motor skills. He is now walking around and exploring, which is equal parts scary and exciting. He loves the water, both in the bathtub and summer swims. Although he is nonverbal, he communicates by grabbing your hand and dragging it to what he wants, whether it’s to the fridge for a bottle or to his tablet to put on his favorite song/video. He’s a joy to be around, but when he’s upset, it can involve guesswork to figure out why.
We don’t know what Felipe’s future will be like. But we will focus on what is in our control – getting him support from professionals, giving him a loving environment, and fundraising.
For everything else, we’ll use our 11:11 wishes.
