Rachel Sakofs, SLP '07: From Graduate to Advocate

February 26, 2020
Rachel sakofs and her baby boy Amit
Rachel Sakofs, SLP'07, has used her MGH Institute education to help her son and advocate for the rare disease he has.

When Rachel (Miller) Sakofs earned her Master of Science in Speech-Language Pathology in 2007, little did she know how important a role her MGH Institute education would play in her family’s life.

It all began several years ago when she noticed her son, Amit, was not developing as a typical 18-month-old should. “He wouldn’t just go through the middle of the room to get a toy. He’d crawl over furniture, go under the couch,” she recalls. “He’d find the most constrictive way to get there. He was always seeking out ways to be squeezed or touched, and he was seeking these things out from his environment. His own body wasn’t providing the integration that it should, so he was seeking it from the outside world.”

Amit on the kitchen floor in a pile of corn kernels

As a young child, Amit was constantly seeking sensory stimulation.​

It turns out Amit wasn’t just seeking out sensory stimulation. There were other red flags as well. Unsteady on his feet, his balance always seemed a bit off, his motor skills not up to par for his age, and his language skills behind those of other children. Sakofs, who was working in a private practice, recognized many of these early warning signs because of what she learned from IHP faculty, especially Gregory Lof, Howard Shane, and Sharon Weiss-Kapp, all of whom were influential in developing her critical thinking processes. “Every area of functioning was atypical,” she says of those early days. “I just felt there had to be some underlying reason for all of these delays.”

Around Amit’s third birthday, she noticed something else. Light brown marks, called café au lait spots, had begun to form on his skin. Her pediatrician suspected the boy had a genetic disorder and referred them to a genetic counselor, who urged Sakofs and her husband, Justin, to get their son tested.

“We were honestly scared of the outcome,” she recalls of those frightening days. “We had been grasping at straws, trying all kinds of different therapies and strategies, wondering ‘Will this work? Will that work?’ So we didn’t know what to expect.”

It took nearly a year for a diagnosis, and when the news came back it wasn’t good. Amit had neurofibromatosis type 1 (NF1), the most common form of three similar genetic disorders that develop in one out of about 2,500 births. The disease, which usually manifests between the ages of 10 and 20, is often marked by the presence of noncancerous tumors, typically found along nerve pathways. Depending on where those tumors, called neurofibromas, are located— whether the brain, spine, or nerves— complications including severe pain, hearing or vision loss, learning impairment, or cardiovascular issues can develop. For Amit, this diagnosis explained his developmental challenges in balance, walking, language, feeding, and sensory processing. 

The diagnosis brought a kind of relief to a family that had long wondered what they could do to help their child. Now, shortly after Amit’s fourth birthday, at least there was a name for the disorder, an awareness of what they might expect, and access to a network of families that were dealing with the same challenges. What it couldn’t do, however, was offer a cure. 

Slow Progress 

Rachel sakofs and her son Amit

Rachel (Miller) Sakofs, SLP’07, with her son, Amit.

While the diagnosis gave a name to their son’s condition, it didn’t solve other problems like the hours of physical, occupational, and developmental therapy Amit needed or the daily routine of dealing with his condition, which all but consumed the Sakofs’ lives. He had speech problems, feeding and sensory challenges, and balance and climbing issues—a mixed bag of developmental delays that required weekly visits by four different therapists. During each session, Sakofs would remain close by, learning the therapeutic techniques that would help him. In between those sessions, she would use her speech and language background to help Amit understand directions and communicate, often using music therapy and singing along to some of his favorite Leonard Cohen songs to calm his restless nature, lulling him to sleep at night. 

Progress was slow. Amit’s lack of core strength meant he had problems walking, crawling, even holding a fork and spoon correctly. It prompted his parents to back off from working on his verbal skills to focus on his more pressing physical issues. 

To complicate things even further, Sakofs was making regular trips from her Chicago home to Boston, where her father was battling cancer. After he passed away, the combination of grief, the daily stress of worrying about Amit, and the fact her circle of friends—unable to understand what she was going through—seemed to pull away, put the family over the edge. “The loss of my father, the loss of your typical child, the loss of the life we were trying to achieve—it was just layers of loss,” she says. “I had a hard time with that.”

By now, the couple had welcomed a baby girl, Mira, who does not have the NF1 gene. Recognizing they needed more help, they decided to move in with Justin’s parents in New Jersey. “We had to give in to the reality that we couldn’t do it on our own,” she recalls. “As much as we tried, it just wasn’t working.” 

Finding a Passion 

A few months after the move, Sakofs attended a nearby neurofibromatosis forum and shared her story with a man whose daughter also had the genetic condition. The opportunity to talk with someone who understood what she was going through bolstered her spirits and sparked a drive to re-enter the world at large. “I thought there was a role for me in all of this,” she says. “There’s got to be some meaning.” 

An opportunity to find that meaning arrived shortly afterwards when the man from the conference asked her if she could go to Washington, D.C. to lobby Congress for more research funds to study the disorder. She said yes without hesitation. Armed with letters from neurofibromatosis sufferers and constituents affected by the disorder, Sakofs set off in February 2019 for the trip that would change her life once again. 

“We stormed Capitol Hill for two days,” she says, recalling how, as a new representative with the advocacy group Neurofibromatosis Northeast, she met with Congressional staffers, including members of Massachusetts Senator Edward Markey’s staff, to discuss the need for research funding from National Institutes of Health and the Department of Defense. She made a strong first impression on the organization’s executive director, Karen Peluso. 

“Being a speech-language pathologist, Rachel brings an important health care perspective when she talks with people,” says Peluso, who has been associated with the organization since 1982 and started lobbying for research funds more than 20 years ago, after her daughter was diagnosed with the condition.

Since 1996, those efforts have helped to generate about $600 million in research funding, and it’s starting to pay off. A promising drug called selumetinib, a joint effort by pharmaceutical giants AstraZeneca and Merck & Co., is awaiting final approval from the U.S. Food and Drug Administration. Other promising cures are on the horizon, including gene-based therapy, although researchers say that’s still years away from being perfected. 

Today, the news is better in the Sakofs’ household. Amit, now eight years old, shows the signs of a typical second-grader. Smart and personable, he still has some speech and social challenges, including some difficulty with attention, but to his mother, it’s a huge difference from where he was just a few years ago. 

Sakofs family - Rachel, Amit and Mira

Rachel with Amit and her daughter Mira.

As for Sakofs, she has found a way to channel her passion. She plans to continue her lobbying role from Florida, where the family moved in late 2019 when Justin started a new job, and hopes to start a local NF chapter there. While continuing to practice as a speech pathologist, she’s looking for opportunities that utilize her strengths and experiences in related fields, such as rare genetic disorders and advocacy. As a start, she is scheduled to speak this summer at a national neurofibromatosis conference. 

Whether she continues in practice or takes another direction, she’ll have a new perspective on things thanks to Amit. “He’s helped me integrate everything I learned at the IHP with real life, and I feel I have grown so much as a clinician in my skills, expectations from clients and families, perspective, and being able to adapt to patient scenarios,” she says. “It’s been a blessing.” 

The family knows challenges will lie ahead, as the full impact of Amit’s disorder may not be known until he reaches his thirties. Yet the future also holds promise, with a potential treatment on the horizon and perhaps eventually a cure, while Amit experiences the normal trials and tribulations of middle school, high school, and beyond. 

“I’m a bit nervous about what’s going to happen as he gets older, but it’s so wonderful to see how far he has come,” Sakofs says. “I’ve learned a lot from him in how he has dealt with his condition and has developed a personality that brings us so much joy. In a lot of ways, Amit has been my best teacher.”

-By Beverly Ford