3/31/15 Journal 40

I shadowed a PT today on a home visit for a 30-month-old girl with Cornelia de Lange
Syndrome. Cornelia de Lange syndrome is a developmental disorder that affects 1 in 10,000 to
30,000 newborns (NIH, 2012). The syndrome is characterized by slow growth, intellectual
disability that is usually severe to profound, skeletal abnormalities involving the arms and hands,
and distinctive facial features. Facial features include arched eyebrows that often grow together
in the middle (synophrys); long eyelashes; low-set ears; small, widely spaced teeth; and a small,
upturned nose. Many affected individuals also have behavior problems similar to autism (NIH,
2012).
Additional signs and symptoms of Cornelia de Lange syndrome can include excessive
body hair (hypertrichosis), an unusually small head (microcephaly), hearing loss, short stature,
and problems with the digestive tract (NIH, 2012). Some people with Cornelia de Lange
Syndrome are born with a cleft palate, an opening in the roof of the mouth. Seizures, heart
defects, eye problems, and skeletal abnormalities are also common in people with Cornelia de
Lange Syndrome (NIH, 2012).
Two other practitioners from the MD school of the blind were there to conduct a baseline
vision and development assessment. The little girl had CVI with a forward sight range of about 3
1/2 feet. She also had severe hearing loss. The girls family was inspiring to watch. Ryan, the
little girl, had all the traditional and most severe symptoms of Cornelia de Lange Syndrome. Her
medical needs were extensive and her medical bills astronomical. Her father had recently
accepted a full-time position in New York City as a lawyer to help maintain medical bills and the
familys lifestyle. Ryans mom works full time as well but is often able to work from home.
Ryans father commutes from New York to DC every weekend to stay with his family.
The PT has been working on Ryans stamina to sit on a bench. They have been working
for three months now, and Ryan can sit independently without back support for up to 3 min. The
PT has also been working to teach Ryan functional play skills. Due to her limited mobility, and
skeletal abnormalities, finding toys that are appropriate for Ryan has been difficult. A particular
red and white rattle seems to excite her the most. Ryan has amelia affecting her bilateral upper
extremities at the level of the elbow on her right and the level of the shoulder on the left. When
sitting at a table, Ryan will push the rattle with her right forearm and look to the adult, her
initiation of a pass.
The PT has worked closely with Ryans parents to develop creative ways to play and
connect with their daughter, not only with toys but also through touch. Ryans muscles are very
tight, making it even more challenging for her to move. The PT has instructed the parents in
many different stretches and massage techniques to help loosen Ryans muscles, but also as a
way to connect. Touch, skin-to-skin contact is such a powerful form of intimacy and connection,
and something I believe to be incredibly important for many people with disabilities. I watched
the PT not only guide and support the family in interventions for Ryans development, but I
watched her love Ryan, through gentle and playful physical touch. She loved Ryan not because
she was beautiful or clever, but because she was human, because the lessons Ryan is teaching
those around her about love, patience, kindness, and hope are more profound than any lesson an
interventionist could ever teach a child.