A special note from Advocates: The Boston Globe story below follows Nina, also known as "Baby Girl Butterfly," a young girl with a rare diagnosis. Nina and her mother, Sam, have been involved with the Autism Alliance, a program of Advocates, since Nina was first diagnosed with Autism as a toddler. The Alliance has supported Nina's family in a variety of ways - counseling, outside program referrals, and more. The family supports the Alliance through donations, and by participating in many of the Alliance's programs, including Kite Day and the Free to Be Me Respite Program. We are very grateful to know Nina, and that the Autism Alliance staff have been with Nina through her inspiring journey. Below is part of the Boston Globe article, which can be read in it's entirety on their website.
Emerging stronger: The inspiring story of Baby Girl Butterfly
Bright as a lemon and graceful as a dancer, a fish swims up and around some purple coral.
On the other side of the glass, a young girl stares wide-eyed at the colors and creatures in the tank, watching her favorite yellow fish and giggling as it glides through all the bubbles.
“Come on, Nina,” says Caitlin, a teaching assistant at the Kennedy Day School at Franciscan Children’s. “We have to get to class now. We’ll come back to the fish tank after.” Nina takes Caitlin’s hand, her gaze lingering on the tank as they walk away.
Unbeknownst to her yellow friend, Nina recently helped rescue and return it safely to its home here at the Brighton school. It’s only one of the amazing things this little girl has done in her life—and only one of the reasons she inspires everyone she meets.
A medical mystery
Nina was diagnosed with autism spectrum disorder at the young age of 17 months. During that first year and a half, her mother, Sam, had noticed certain behaviors, especially considering Nina wasn’t hitting the same developmental milestones as her older brother.
“I know it’s discouraged to directly compare your children, but around six months old, she still wasn’t sitting up,” says Sam, “and even after one year she wasn’t babbling like I know most babies do at that age.”
By the time Nina had completed her early intervention therapy for speech, it was determined she had seven out of the eight signs for the autism spectrum disorder, including pervasive developmental delays not otherwise specified (PDD-NOS). This diagnosis, however, was only one small piece in a much larger medical puzzle.
Two years later, when Nina was in the car with her mom and brother, she had her first seizure. After an initial evaluation at Boston Children’s Hospital, they sent her home with medication. But her seizures continued—and only got worse.
On June 1, 2012, four months shy of her fourth birthday, Nina suffered cluster seizures at home that forced her to return to Boston Children’s. Doctors were unable to pull her out of it, so they had no other option than to put her into a medically induced coma.
“Honestly, the whole staff was enthralled by the fact that this child, who at the exact age of three and a half, developed these life-threatening seizures where she would actually stop breathing,” says Sam.
After further testing and blood work, doctors said they believed Nina had Angelman syndrome, a very rare condition that falls within the autism spectrum.
Children with Angelman syndrome rarely ever speak and start having seizures at three and a half years old. Nina fit the bill. She even had the specific physical features, like a particular spacing of the teeth, but doctors couldn’t help but remain unsure. While children with Angelman syndrome do have seizures, they shouldn’t be as life threatening as Nina’s continued to be.
Over the next three years, with the help of medication, Nina lived seizure-free. She grew to be a joyful, loving, and funny little girl who marveled at the world around her.
“I call her Baby Girl Butterfly,” says Sam. “The first time I ever saw her move so quickly, and the first time I ever heard her belly laugh, was when she was chasing a butterfly around the yard. It showed me how light as air her spirit truly is.”
But, it turned out, she was not in the clear. At age 8, during what was meant to be Nina’s first week of school, she became wobbly on her feet and kept falling over. She was vomiting constantly.
Back at the hospital, all kinds of specialists worked to determine what would cause these new and worsening symptoms. They discovered a golf-ball-sized growth on the side of her neck, and she was losing consciousness every three minutes.
“As a parent, to see your child in the hospital like that with doctors saying they don’t know what’s going on with her, it’s so incredibly heartbreaking,” says Sam.
Finally, an answer did come.
Nina was losing consciousness because she constantly, and involuntarily, held her breath. This major clue, along with the many other symptoms doctors witnessed up to this point, led them to a final, more confident diagnosis: Pitt-Hopkins syndrome.
Throughout her life, Sam always knew Nina was special, but this confirmed just how special: Nina is only one of the 500 known cases of Pitt-Hopkins syndrome in the world.