Watching her toddler Pyper struggle daily to eat and swallow food normally, Stephanie Stillman started to wonder if she was going crazy. She didn’t know what she was missing. She sought help in Phoenix from specialists — several of them — but they didn’t have any answers for her.
“Am I crazy?” she asked herself over and over. “There has to be a reason that my child can’t eat, a reason she turns red and blotchy, a reason her body temperature goes crazy and she’s getting pneumonia.”
Eventually, she discovered a reason, albeit a very rare one.
Several months after her second birthday, Pyper Stillman was diagnosed with Familial Dysautonomia, a rare genetic disorder affecting the autonomic and sensory nervous system. Nearly everyone known to have the disorder is an Ashkenazi Jew like Pyper.
That was difficult news to absorb, but at least it was an answer — that in itself brought relief.
“Once we got that diagnosis, there was a sense of peace and acceptance and being able to move forward,” Stillman said.
With a disorder so rare, the Stillman family wanted to talk to other people living with it. They were referred to the Familial Dysautonomia Foundation in New York, and though it was far from their Phoenix home, it was where Stillman knew she needed to be.
The foundation flew Stillman and her family to New York and paid for Pyper’s medical evaluations and procedures. More than that, they gave the family knowledge.
“They gave us a lot of answers and reassurance and information,” Stillman said, “both good and bad — the reality of what we were facing.”
Stillman is no stranger to genetic disorders. With her first pregnancy, Stillman and her husband went through genetic testing, but apparently it wasn’t extensive enough. They were surprised when their eldest daughter Zoey was diagnosed with a genetic adrenal insufficiency disorder.
They inquired about doing more genetic testing before their second pregnancy but ultimately were dissuaded by doctors who argued the probability of having two children with the same disorder was very low.
“They kind of told us to go for it,” Stillman said. So they did. Their daughter Pyper not only has FD, but the same adrenal insufficiency as her older sister as well.
That mindset of incredulity regarding the low probability of having multiple genetic disorders initially kept doctors from suspecting one as the cause of Pyper’s health issues.
And it is rare. Approximately 350 people in the world are diagnosed with FD.
Still, the time lost in the search for the diagnosis is what Stillman regrets most. “We could have prevented a lot of pneumonias,” she said. “We could have started interventions and therapies immediately. Who knows how much further along she would be in managing all these symptoms had we had those extra two years?”
She also regrets the time spent away from her older daughter. She was in and out of the hospital with Pyper trying to discover what was causing so much suffering, and thus was away from Zoey.
Now, Stillman is a firm advocate for testing and the work of the FD Foundation.
On Dec. 6, 2020, the foundation is hosting a virtual concert featuring Nissim Black and other Jewish and Israeli performers to raise awareness for genetic testing and money to support the foundation’s advocacy work.
“Knowledge is power,” Stillman said. That’s what the experience taught her and what she hopes others can learn from her.
Though she feels “overwhelming support” from her friends and her synagogue, Temple Solel, the foundation is the one place where affected families can gather, meet and support one another. “We get to see everyone and how they handle it and how they overcome their challenges and create that sense of community and support,” Stillman said.
The disorder causes an inability to swallow and affects tear production, heart rate, blood pressure and body temperature.
“All those things that happen automatically for us do not happen automatically for her,” Stillman explained. Every person has a different presentation of symptoms, creating a wide variability along with some overlap. Some have trouble walking and others need oxygen full time.
Although Pyper doesn’t have all those problems now, she might one day. She already had six episodes of pneumonia in her short life, and it caused severe damage to her lungs, giving her chronic lung disease. She can’t cough effectively or clear her throat by herself. She has trouble breathing. She has decreased pain sensation meaning she can badly hurt herself and not know it. Thus, she needs to be observed closely all day, and when she was in preschool she had a full-time aid to make sure she didn’t fall and hurt herself without realizing it.
Emotion regulation is another symptom of the disorder. When she’s happy, she’s really happy, but when she’s not, the anxiety is difficult to control.
While neither Pyper nor Zoey is technically immunocompromised, if either were to catch COVID-19 — Pyper especially — the complications would be fierce. Thus, the family put itself under strict quarantine.
“Because if Pyper gets this,” said Stillman, “it could be very devastating.”
It all comes back to knowledge. Stillman said the awareness the foundation creates for people can be life changing. “Knowing these possibilities are out there and they affect real people,” she said, is essential. “The more knowledge you have, the better decisions you can make.” JN
For information about the concert and to register, go to: famdys.org/unified.