Artifact 1

Personal interview
I need my interview with a lady by the name of Shirley Dechaine. She
helped Ann C.M. Smith M.A. D. Sc. (Honorable), Genetic Counselor, and R
Ellen Magenis, M.D., Clinical Geneticist/Cytogeneticist help write the book
All About Me this book is the autobiography of her son Paul, and his
dealings with the rare genetic disease Smith-Magenis syndrome.
The five questions that I asked were:
1) What is the disease? The disease is caused by an abnormality in the
short arm of chromosome 17. (17p11.2) the diagnosis of SmithMagenis syndrome is usually confirmed by documentation of
interstitial deletion of chromosome 17p11.2 In other words, a small
part of chromosome 17 is missing (p11).
2) What are the common features of Smith Magenis Syndrome?

Recognizable facial appearance with mid-face hypoplasia; rosy

checks; dark eyebrows that meet in the middle (unibrow), small
chin(micrognathia) in infancy changing to more prominent
lower jaw at older ages.

Failure to thrive in infancy (slow growth rate)

Poor muscle tone (hypotonia)

Developmental delay/mental retardation

Marked early speech delay (expressive more than receptive)

with diminished vocalizations/ early babbling

History of recurrent otitis media, upper respiratory infections or

pneumonia

Hearing loss (conductive/ and or sensorineural)

Vision problems (myopia)

Skeletal: scoliosis, small hands, and feet, early short stature

Delayed potty training; nighttime bedwetting (enuresis)

Signs of peripheral neuropathy: decreased sensitivity to pain,

flat feet (pes planus), decreased reflexes

Unusual broad-based gait/ toe walking

Sensory integration issues

Elevated daytime melatonin (diurnal highs)

High cholesterol

Low immunoglobulins

Behavioral features that include maladaptive, stereotypic and/or

self-injurious behaviors as well as other several strengths

Attention-seeking behaviors

Adult-oriented

Frequent outbursts/tantrums

Sudden mood shifts

Meltdowns

Impulsivity/aggression

Hyperactivity

Stereotypic behaviors; self-hugging, rapid page flipping (lick

and flip) behavior

Self-abusive behaviors: head banging; hitting self; wrist biting;

skin picking or pulling; object insertion

Major sleep disturbances (chronic): short sleep cycle; early

risers (5:30-6:30 a.m.); frequent nighttime awakenings and
daytime naps; unusual inverted circadian rhythm or melatonin
(daytime highs)

Excellent long-term memory

Affinity for computers and/ or electronics

How does having a child with disabilities affect everyday life?

Because of Pauls disposition of trusting everyone he is likely to give a
complete stranger a hug. It would be really easy for him to be kidnapped or
drive away with a stranger, so we have to always keep him in a protective
environment.
Another example of Pauls behavior is that one time I chose to
rearrange the living room furniture and he acted out at school. The teacher
called me and asked me if there was anything different in Pauls
environment, and had to tell her that I had moved the furniture.
What do you think was the most negative aspect of Paul having
Smith- Magenis syndrome? The worst part of the disease in Pauls case is
that the syndrome was not even discovered until Paul had turned nineteen
years old. He was a very sick child and several times had failure to thrive
symptoms he would not eat. He looked like a child who was malnourished.
He basically lived at the hospital when he was small in Minnesota where he
was born. The family then moved to Chicago where he went from a nursery
to the hospital on a daily basis. When he was six my ex-husband took him
out of the hospital setting and brought him to Arizona to live with us. Then I
had to deal with him from that time forward.
Who do you think helped you the most with Paul? The church

Final question what advice would you give to someone who has
a child with an intellectual or developmental disability? The early the
intervention the better off the child will be because then they will have the
chance to live an almost normal life.
What did I learn from interviewing Shirley a lot more than I ever
thought I would learn? How much Paul reminds me of me? Some of the
stories that they said about Paul how he would just wander off. Like the
time him and his sister decided to go to school on their own by walking and
Paul ended up getting lost by going a different direction. He ended up
falling asleep on the back of a truck when the truck driver went to work he
found Paul there. When I was young I used to wander off all the time. My
family and I would be hiking I would just disappear, so they would have to
spend hours trying to find me.
Another interesting fact is that the genetics use Pauls book All of
me to help diagnosis other patients who have Smith- Magenis syndrome
because it is a classic story of the disability. The fact that a book was
written about Paul is amazing.
Paul is now forty years old. For the most part he has growing out of
the disease. His is a mild form of Smith-Magenis syndrome. He still needs to
be watched, and he still wets the bed, and picks his skin. He is just
awesome to see what he is has gone through in his lifetime. He just really is
a loveable adult man.

Finally, I learned that the system doesnt support Paul and his disease
in the extent that if anything should happen to Don or Shirley that the state
has the right to come into the house and take Paul away. Luckily, for Shirley
and Don (her husband) Rhonda (Pauls sister) has signed papers saying that
she is the legal guardian of Paul. If anything should happen to her parents
that she is totally responsible for Paul. I thought that was pretty awesome.