By all accounts, when Alexandra Anderson was born, everything was “uneventful.”
“Everything was like [a] typical, uneventful birthday,” Alexandra’s mom, Nicole Anderson, said. “You know, she came into the world, and she was full-term and just amazing.”
But six to nine months later, Nicole said, Alexandra was not reaching the milestones typical of children her age.
“She was experiencing some delays,” Nicole said. “She wasn't meeting the milestones that you see on the, you know, baby checklist."
Concerned, Nicole and her husband turned to Alexandra’s pediatrician looking for answers. The pediatrician suggested an evaluation and genetic testing at Phoenix Children’s.
“I remember the neurologists called me while I was at work,” Nicole said. “And my phone rang, and it was the extension of the hospital. And I was like, ‘Oh, here we go, this will be a call that may change our lives forever.’”
At 15 months old, Alexandra was diagnosed with Pitt-Hopkins syndrome, a rare genetic disorder that impacts the 18th chromosome.
“It was devastating. Like completely devastating,” Nicole said. “That one gene is actually a pretty critical gene in our bodies. Without it, or at least without half functioning of it, she's not able to communicate verbally, like you and I do.”
According to the National Institute of Health, an estimated 5,000 people in the U.S. live with Pitt-Hopkins syndrome.
“There's about 10 of us now… living with a child diagnosed with Pitt-Hopkins in Arizona,” Nicole said. “But at the time… she was the third diagnosed. And this was in 2016.”
Due to the rarity of the syndrome in the state, and across the country, little was and is known about how the neuro-developmental disorder.
“I remember turning to my computer at work and typing in like ‘life expectancy of Pitt-Hopkins’ because I didn't even know what it was,” Nicole said. “But immediately I thought, is this going to end her life?”
Nicole’s research confirmed that, no, Pitt-Hopkins would not end Alexandra’s life early. However, doctors, medical journals, and Nicole’s research also emphasized two very apparent constraints.
“They always referenced that the children most likely won't walk or talk,” Nicole said. “I grieved much harder on the fact that she will be locked inside of her body forever and not be able to voice her wants, needs.”
Even as she navigated her grief, Nicole was determined.
“To answer the question that I just posed, [Pitt-Hopkins] shouldn't cause any shorter life for her. She should live a wonderful, long, fulfilling life,” Nicole said. “And knowing that, I decided right then in there that we would do everything humanly possible to give her the best life that she deserves. That any kid deserves.”
Five months after her diagnosis, by 20 months old, she was being evaluated for an Augmentative Alternative Communication (AAC) device to help her unlock her voice.
According to Brett Martin, an AAC specialist and bilingual speech therapist at the United Cerebral Palsy of Central Arizona, AAC devices can allow individuals with developmental or intellectual disabilities to communicate in different ways.
“We're always really shooting to presume competence and to give children all the tools that they would need to be able to keep developing their language, even though they might have a certain deficit,” Martin said.
Alexandra’s first AAC device was a PODD (Pragmatic Organized Dynamic Display), a book with thousands of pictures and prompts to help Alexandra express herself.
Using the PODD, Alexandra was able to point to pictures, telling her parents her wants and needs – a feat that had once seemed impossible.
“At the end of the day, it was an amazing start for us of just like giving her access to words,” Nicole said.
The family used the PODD to communicate for several years. Recently, however, they’ve adopted an AAC device that allows Alexandra to use an app on her iPad, unlocking thousands of words and phrases for her. Words and phrases that not only help Nicole and her husband understand Alexandra but also help Alexandra communicate how she is feeling, physically and emotionally.
“Think of a neurotypical kid,” Nicoel said. “They say, ‘Oh, Mommy, I don't feel well, I don't want to go to school.’ She can't say that.”
Citing a real example, Nicole recalled a day when Alexandra looked under the weather.
“We asked her how she's feeling,” Nicole said.
“I'm sick,’” Alexandra replied.
“What hurts?’”
“My throat.”
“We were like, ‘Oh, my gosh, Your throat hurts. We're gonna take you to the doctor,” Nicole said.
Alexandra had strep throat.
“Like, if she couldn't tell us that, how long would we have gone with a kid that's like just sitting there with like, the worst sore throat pain?” Nicole said. “But nope, we got her on meds immediately and you know, [were] getting her relief. And that's the power of giving her access to her voice.”
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