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Erin Walters-Beach
2 August 2017
PSY 1100
Dr. Steele

I wish for a world that views disability, mental or physical, not as a hindrance

but as unique attributes that can be seen as powerful assets if given

the right opportunities. ~ Oliver Sacks

By age six, most North Americans ride tricycles; climb ladders; pump their legs

on swings; and throw, catch, and kick balls, (Berger, Invitation to the Life Span) but

thats not the case for my nephew Elijah. My nephew was born with Wolf-Hirschhorn

syndrome a genetic condition that is attributed to a deletion on the short arm of the

fourth chromosome. This missing genetic material can result in delayed growth and

development that can vary in severity based on the amount of deleted or sometimes

duplicated material. Individuals with Wolf-Hirschhorn syndrome tend to show signs of

slower growth before birth, and most infants are diagnosed with failure to thrive very

early on resulting in a statistically high mortality rate in diagnosed infants. They tend to

have weaker and underdeveloped muscles, which makes it difficult for them to perform

the physical tasks or maneuvers that an average six year old could. In fact, motor skills

such as sitting, standing, and walking can be significantly delayed due to low muscle tone

also called hypotonia such as in my nephews case.

At six years old, Elijahs physical development closely resembles that of a three

month old he does not walk, he is unable to stand, and needs assistants or support while

sitting. While other six year olds are able to control their major muscles, Eli is still

gaining head control. And where other six year olds are dressing themselves with minor

help, Elijah is still in diapers. He is also incapable of consuming food orally. This is not
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only due to lack of physical capability to feed himself, but also because he has an

underdeveloped epiglottis. Thus, he has a permanent feeding tube with a portable

machine that pumps food directly into his stomach through what is called a button. His

food consists of a liquid diet that is high in protein and fat but low in carbs also called a

ketogenic diet to help with his seizures. We call it his milk as it closely resembles a

babys formula and has the consistency of milk. He also gets a dose of a few different

medications, dissolved in water and fed through his tube, to help with his seizures as

well. His medications are a cocktail consisting of a benzodiazepine and several other

anticonvulsant class drugs. According to research done on patients with Wolf-Hirschhorn

syndrome, Elijahs seizures should start to fade with age; however, he still experiences

episodes of prolonged seizures at his age where he has to be given a special emergency

medication and is often hospitalized.

Other physical anomalies associated with Wolf-Hirschhorn syndrome include a

rather wide range of dental, visual, heart, and genitourinary issues that can vary in

severity depending on the extent of chromosomal impact in the individual. In Elijahs

case, he has a few, widely spaced teeth, an abnormality with one of his pupils, and he was

born with his bladder outside of his body which doctors surgically corrected soon after

his birth. In addition to this, his hearing is impaired to the point where he has hearing

aids. This has a heavy impact on Elijahs communication skills, though he is still highly

social. Even though he makes loud yelling noises akin to a babys babbling at times to

gain attention, his preferred method of socialization is through physical contact. This can

be seen through his positive reactions to being touched, cuddled, or even tickled.
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In conclusion, it is probably worth mentioning that there is a syndrome called Pitt-

Rogers-Danks that so closely aligns with Wolf-Hirshhorn syndrome that they are both

accepted as being the same syndrome with a few variations. For this reason, further

information could probably be found under research done on Pitt-Rogers-Danks

syndrome.
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References

Berger, K. S. (2016). Invitation to the Life Span. S.I.: Worth Pub.

Wolf-Hirschhorn Syndrome Symptoms. Wolfhirschhorn.org,

wolfhirschhorn.org/about-wolf-hirschhorn-syndrome/.