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Rare Disease Awareness


She was a beautiful child. She was so good-looking that her cuteness was almost a caricature. Her blonde hair fell straight onto her shoulders, with bangs that were cut to reveal her forehead, accentuating her big blue eyes. Her nose was small and turned up ever so slightly. She was petite, even for a seven-year-old. She looked me straight in the eye nearly continuously and was almost always smiling. Her mood was one of happiness and she was a joy to be around. If a cartoonist had set out to convey his conception of a living doll, this might have been the result. There were a lot of toys available in the room, but her attention was exclusively directed toward me. She seemed to be oblivious to the presence of her mother or the female doctoral student also in the room with us.

The child’s mother reported that her daughter loved music. With very little instruction the girl seemed to just intuitively know how to play the piano, her mother noted with some pride. The child had been a colicky infant, but she developed language remarkably well, and perhaps a little early, and she was now quite verbal. Despite some fine motor problems, the child was quite social in school, although mostly oriented toward the adults.

She continued to ignore the room full of toys and started climbing onto my lap. I have performed a great number of psychological assessments, but this is the only time that this happened. I must have looked startled.

“This is what happens,” her mother said. “She is overly friendly with strangers. She took a strange man’s hand in the mall and asked if she could go with him. Fortunately, I was right there.”

My student and I asked a few diagnostically important questions to evaluate some important hypotheses. There did not appear to be a history of abuse or exploitation, although the child was clearly at great risk. We could identify no other relevant psychological factors to explain the child’s profound impairment of social boundaries. We had no solution to this puzzle.

The mother revealed that she has been distressed by the child’s behavior for several years. The pediatrician thought that the child was mildly uncoordinated, but otherwise physically healthy. This family’s experience in the ambiguous world of rare disease had begun.

I had been involved in the broader issue of rare disease for many years through my association with the communities affected by Gaucher Disease and other lysosomal disorders. However, those experiences did not help me to understand this child. My rare disease experiences did tell me, though, that well-defined, enduring observations that appear to have little relationship with each other, may have a common cause.

Science, I learned many years ago, attempts to describe, explain, predict, modify, and control observed phenomena. And a good theory will explain the observations in the simplest manner. “A good theory is parsimonious,” I can still hear my professor saying. The answers are here, if we can only ask the right questions. And then we must separate the signal from the noise.

The Gaucher Disease experience, to use the example of the most common lysosomal disorder, required scientists to explain how a large spleen may be related to a painful leg, or how a nosebleed may be related to a flask-shaped long bone. All of those observations are united by a single explanatory theory: A diagnosis of Gaucher Disease. And in retrospect, when a diagnosis is confirmed, it is easy to wonder how it had ever been missed.

But the reality is that rare disorders are, well, really rare. The constellation of indicators is present, and evident to multiple observers. But the explanation is not handed to us. In a movie, the sets, costumes, props, dialogue, effects, and even the music are integrated to tell us a story. A scientist has a collection of observations, but no narrator to tell him where to look.

My young patient did not come to the clinic with a book about her life. Could there be a single theory to describe and explain my observations? I could not flip ahead to see how it all turns out. I would be helping to write her life’s story, and I am not ashamed to say that I too was distressed by the ambiguity. Families affected by rare disorders commonly wait almost five years until someone puts the pieces together. And a delay of decades is not uncommon.

Psychologists have some very good science-based methods of assessment, at least with regard to the most common issues affecting children and adolescents. Yet there was no single test or algorithm to put the observations together for us with this child. We still had observations that represented ill-fitted puzzle pieces. What does it mean for a good looking and happy child with a history of colic to have a friendly personality, exceptional musical ability, some impaired coordination, and an extraordinary absence of apprehension around strangers?

I derive a very special type of joy from seeing a student do our work better than me. And my almost-a-psychologist student developed the explanation that we call a theory or, as in this case, a diagnosis. As my student discovered, hidden within the pages of references on behavioral genetics, fewer than 1 in 10,000 people will have a certain deletion on chromosome 7. And such people are sometimes described as elfin, musical, and socially uninhibited.

There is a certain satisfaction, but also some distress in learning that the symptoms fit a known pattern. At a follow-up meeting, the mother cried when we told her that the constellation of her daughter’s characteristics matched Williams Syndrome, one of the rare genetic disorders.

According to the National Organization for Rare Disorders,

People with rare diseases have tremendous unmet needs, including misdiagnosis, a long time to finally receive a correct diagnosis, and when they do, 95% have no treatment with ZERO CURES (

Research will help us to find the answers. And we have a lot of work yet to do.

Author Bio

Dr. Wayne Rosenfield worked for many years in Connecticut to develop and implement inpatient treatment programs for persons with chronic and debilitating mental disorders. His interest in addressing the most intense problems led him to disaster mental health deployments with the Red Cross following the 2001 terrorist attacks, and then to crisis work in hospital emergency departments. He was again with the Red Cross in Newtown the day after the shootings at Sandy Hook Elementary School. Engaged with Connecticut’s response to Sandy Hook he was part of a statewide initiative to treat trauma in children. Having relocated to Florida, he is part of a research team examining a novel treatment for combat PTSD, and he performs psychological assessments for a group practice. He is a frequent speaker in the US and internationally on the subject of rare diseases. He is an adjunct instructor at Argosy University Sarasota , who teaches School Psychology in the College of Education . His highly rated book, Great Necessities, is available on

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Choose Sunny Sarasota as the Backdrop to Your Educational Future


Argosy University, Sarasota is located at the southern tip of the Tampa Bay Area, near the intersection of 17th Street and Honore Avenue—easily accessible from I-75. Sunshine and recreational opportunities attract students to the Sarasota region, home to nearly 53,000 people.

Argosy University, Sarasota offers program areas ranging from School Psychology to Business Administration, Human Resource Management, Clinical Mental Health Counseling, Criminal Justice, and Information Technology. The school offers doctoral degrees, master’s degrees, bachelor’s degrees, and associate’s degrees. Many programs have flexible learning formats that allow students to fit an education into their busy work and life schedules. “The faculty want you to be successful,” said Dr. Carol Probstfeld, who in 2005 earned a Doctor of Education in Organizational Leadership from the school.

Once admitted to the Sarasota campus, students have access to the school’s library, which contains resources that support campus programs while encouraging life-long learning. The library maintains a specialized collection of books, scholarly journals, audiovisuals, dissertations, and theses—reference materials that assist students at all levels of their education to grow academically and professionally. The library is also accessible online.

Students in Sarasota have access to all kinds of activities to enhance their college experience. Known for its historic buildings, Sarasota is popular with tourists for its beach proximity and recreation including sport fishing, an energetic theater community, and a popular film festival. Cultural opportunities include the Sarasota Ballet, Sarasota Opera, Asolo Repertory Theater, and Ringling International Arts Festival.

Sports fans travel to nearby Tampa Bay to see the Buccaneers, Rays, and Lightning. Baseball spring training at Sarasota’s Ed Smith Stadium also attracts fans from across the country who are looking for a jump-start on the summer baseball season.

Click on the links below to discover the academic programs that Argosy University, Sarasota offers. If you’d like to talk to an admissions representative, call (855) 435-5334 or visit our admissions webpage. You can also stop by the school. Our address is 5250 17th Street, Sarasota, FL 34235.

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  • 2018

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