When Theo was born in April 2013 in Brooklyn, New York, his parents, Christina Poletto and Daniel Weger, were thrilled to discover that he passed his newborn tests with flying colours and seemed perfect.
“A couple months earlier, our team of baby doctors informed us that because of my age, and according to some blood test results, my numbers for Down Syndrome were elevated,” says Poletto, who is a senior editor for Today.com. “We were thrilled to see that Theo looked great and had adopted the persona of a sweet little newborn right away.”
Within a few months, however, things started to change. Poletto had two pregnant friends with similar due dates, and as she watched all three of their babies grow and develop she realized that Theo was missing his milestones. At 4-months-old, Theo had a weak core and wasn’t turning or moving naturally, and at 6 months his motor skills were non-existent, he was laughing but not babbling, his sleep was poor, and he still had infantile reflexes.
“We initially thought that he had issues with his hearing,” says Poletto. After some testing, they opted for tubes surgery and, immediately following, Theo started moving his head more naturally and was able to tripod-sit for the first time. Yet, Theo’s parents knew something was still off.
“At that point, we thought maybe he had cerebral palsy,” she says. “We’d bring therapists to the house and they’d say they didn’t know what it was, but that it wasn’t cerebral palsy. My husband thought so much about Theo’s incessant happiness that one night he randomly Googled “happy baby syndrome” and the first thing that popped up was the definition of Angelman Syndrome.”
When they consulted Theo’s pediatrician, she dismissed their concerns. “She told us, ‘Boys always take longer, don’t sweat it.’” Although Poletto and Weger were sure it was more than just a natural delay, their pediatrician called them “alarmists” when they requested genetic testing.
Undettered, the worried parents sought a second opinion from another pediatrician. “His new doctor took one look at him and immediately ordered a genetics roundup,” says Poletto. The genetic testing took eight weeks, and within that time, right after Theo’s first birthday, his temperature spiked to 104-degrees Fahrenheit and he had his first seizure. Shortly thereafter, Theo had a grand mal seizure and was admitted to the hospital, given meds, and an EEG (a procedure that tracks and records brain wave patterns); it was then that his condition was confirmed.
“The pediatric neurologist explained that the results of the EEG displayed textbook brainwave pattern for Angelman Syndrome,” says Poletto. “She proceeded to rattle off her Googled diagnosis of this condition, and told us that Theodore would never love us or know that we were his parents…. We couldn’t believe it. It was a horrible delivery of the most important news. We didn’t see that doctor again—we couldn’t face someone who would make such bold remarks about the awareness of our child.”
According to the Angelman Syndrome Foundation, AS is a rare neuro-disorder that can be caused by a missing maternal chromosome 15, the inheritance of two paternal chromosomes, a chromosomal imprinting defect, or a mutation of the maternally delivered chromosome 15. It’s characterized by severe developmental delays, sleep disturbance, speech impairment, seizures, jerky movements (especially hand-flapping or waving), frequent chuckling or smiling, and generally excitable and happy demeanor. Although there is now prenatal testing for AS, detecting rare chromosomal abnormalities, it was not available when Poletto was pregnant.
“If you Google Angelman Syndrome, you’re going to get the worst case scenario for everything,” says Poletto. She added that she couldn’t believe that her smart, present, and aware little boy could be suffering from such a rare syndrome that affects 1 in 12,000 to 20,000 people and is often misdiagnosed as autism.
The genetics test results also came back confirming Angelman Syndrome, but Poletto says that she struggled to accept the diagnosis–and the new community they were a part of.
“The first time we went to the annual Angleman picnic—two hours from our home—we sat outside the gate thinking, ‘These aren’t our people. We’re only here because of Angelman,’” she remembers. “But then I saw angels running around, going to school, responding to their parents expressions, gesturing with iPads for what they needed. I was hesitant, but it opened my eyes to how it can be with an angel. Life doesn’t fall apart.”
Since Theo was diagnosed with Angelman, Poletto and Weger have made it their mission to help him thrive. Two years ago (when Theo was around 18-months-old), they moved upstate where they could be closer to family, and where Theo could go to a special school full time to receive PT, OT, and speech therapy. As a pattern-maker and tailor, Daniel is able to work for himself and therefore has more flexibility to help Theo and be there for the four therapists coming to and going from their home on a daily basis. Besides therapy, keeping up a daily routine helps.
Theo’s day is typically bookended by big, healthy meals. He’s on a low glycemic diet, which has been proven to help reduce seizures. “In between I like to take Theo out of the house. We run errands, hit the park where we get in our walking exercises, attend play dates with other angels, or go out to eat. We’ll often take road trips, too, because we don’t feel that Theo should be limited in his exploration of the world because of his condition. Camping takes a lot of planning and prep to travel with a special needs child, but it’s so worth it to see the smile on his face. He loves it.”
Like his parents, Theo also loves music, and has always connected with it. “He adores the full-size keyboard we have set up for him, and has somehow figured out a way to loop, record, and create amazing cacophonous mixtures of sounds that somehow work,” says Poletto. “We’d like to pursue more music lessons or music-based therapies in the future. I truly believe that Theodore connects with music on the deepest levels, and gleans something from sounds that he doesn’t from the natural world. It’s inspiring to see that sort of connection.”
One of the hardest things about raising a child with Angelman Syndrome has been Theo’s lack of speech. “I wish he could tell me what he wants for dinner,” says Poletto. “He can do open mouth sounds like ‘ma-ma-ma-ma-ma’ which is how he expresses emotion. If he’s hungry he might do more of a whine. It’s incredibly difficult watching a nonverbal child try to convey his frustrations, wants and needs, or express pain.”
However, there is reason for Poletto, Weger, and other parents like them to be optimistic about the future. The Foundation for Angelman Syndrome Therapeutics (FAST) recently received a $5.8 million grant from the Marnier-Lapostolle Foundation, to help develop and speed up life-changing clinical trials.
“The clinical trials range from ketone ester drinks that helps keep seizures at bay, to injections that might help with sleep, to various other therapies,” says Poletto. “There are two AS organisations, and many on the medical board are mothers of angels and they have the brains to back up what they’re looking for. They know AS has been cured in mice, and exactly what to look for.”
Poletto thinks there could be a cure within the next two years, which is both exciting and a little scary. “When we talk about these cures, what does it mean exactly?” she wonders. “Is it going to change his disposition? Is he going to be different from what I love? What if it doesn’t work? What if it has a reverse effect? I hope that wouldn’t happen, but would he regress at all? It’s difficult to contemplate. You don’t want to be in a more difficult spot than you already are.”
Fears aside, Poletto and Weger have high hopes for a cure. A cure could mean improving Theo’s ability to move, gesture, communicate, create, and expand on his intentions and interactions with others and the world. Calming his constantly buzzing mind might improve his sleep and keep the seizures at bay for good. A cure could help Theo express his ideas, opinions, and thoughts beyond facial expressions and gestures and make life less frustrating for him.
“I would love for Theo, and all angels, to benefit from something that will make their lives easier, without removing the magical essence of who they are,” says Poletto. “That is my hope for a cure.”