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
“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
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.
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
College of Education
. His highly rated book, Great Necessities, is available on Amazon.com.