The Children's Institute Blog

Battling Phelan-McDermid: Ada's Story and The World of Mae

Posted: Sep 15, 2017 by The Children's Institute

Ada Mae Grashow, who celebrated her ninth birthday yesterday, hit her milestones a little late as a young toddler, learning to walk at 2 and talk at 4. But the real story doesn’t begin until halfway through her fourth year of life, when her health and development started to rapidly regress.

“She lost the ability to sit up. She lost her words, her ability to babble. Her hands atrophied and she started chewing holes in her fingers,” said her mother, Katie. “She went from smiling all of the time to not making eye contact, and just crying and moaning. It was devastating. And we had no idea what was going on.”

After nearly a year of doctors’ and specialists’ visits, they found their answer – genetic tests revealed Phelan-McDermid syndrome, an extremely rare genetic disorder caused by deletion or rearrangement of chromosome 22. Doctors said they didn’t know if Katie’s daughter would ever return to the smiling, laid-back little girl she once was.

“I don’t know if I’ll ever experience that Ada again but I feel she’s in there somewhere and there’s a very thick fog,” Katie said. “I just don’t want her to feel shameful about being able or not being able to do this or that. [We foster] a culture of acceptance and dignity.”

There are obstacles. Insurance will not fund all of Ada’s therapies and, since she is not potty-trained, schools at first did not accept her for admission. So, Katie did what came naturally – she started building a foundation that would help fund Ada’s needs and spread the word about Phelan-McDermid.

That foundation, dubbed The World of Mae, soon will fund the building of a new school space in Ada’s Fox Chapel-area home where she can be taught and provided therapy, Katie said. Eventually, they want to create a space other families with special needs can use as a community resource. Ada continues to receive speech and physical therapies regularly at The Children’s Institute of Pittsburgh in Squirrel Hill.

The foundation also pays for Ada’s frequent visits to New York, where specialists in Phelan-McDermid – there have been only 1,300 to 1,500 cases reported worldwide – provide her specialized care. A World of Mare 5K and 1-Mile Fun Run will be held at North Park Oct. 7 to help fundraise for the organization; registering by this Sunday will get you a free World of Mae t-shirt.

“[Ada] just teaches us a whole new way of living,” Katie said. “I’ll be damned if her life is turned into a pity thing or a sad thing – that’s not what she’s all about.”

Despite being largely nonverbal – her sister, Wilhelmina, says Ada speaks a fairy language – Ada remains resilient, matching the pitch of the sounds she makes to others’ voices, said Lee Anne Miller, a board certified music therapist in Pittsburgh’s North Hills who sees Ada twice a week.

“I’m working to find ways to connect with her,” said Lee Anne, who wrote and performed songs with Ada before her regression roughly four years ago. “My definition of progress is based on Ada herself. I thought [some progress] might take years but I’m just looking to prolong that give-and-take, and find ways of communicating that works for Ada.”

Maura Maloney, a Children’s Institute speech-language pathologist, has been seeing Ada since January 2015 and currently is working to engage her meaningfully in tasks and play, teach her to respond to prompts and tasks, and focus on reciprocal interaction. She’s even sampled a little low-tech alternative and augmentative communication (AAC) with to GoTalk device, since May.

“I do find she has the ability to be present and to tolerate the pace of the things we do,” Maura said. “She has a great persistence. She’s a really strong kid – there’s a lot stacked against her.”

Because Ada’s condition and pace of recovery is so unique, Maura said it’s important that she and others “throw out the rubric you had” and focus on her individual development.

“She has pretty good days and she has some lethargic days,” Maura said. “But she’s an amazing kid. And her family’s always involved – and that’s helpful.”

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