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Ten-year-old boy with rare genetic condition is signed to college hockey team

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Wednesday, October 11, 2017

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Ten-year-old Coleman Walsh who has a chronic illness called Williams syndrome will be signed to Massachusetts's Babson College's hockey team today.

Walsh's disease, called Williams syndrome, affects one in 10,000 people and causes developmental delays, learning difficulties and growth abnormalities, and no cure for the illness currently exists.

However, specialists such as cardiologists and therapists can work with Williams syndrome patients to lessen their symptoms.

Walsh, who is from Walpole, Massachusetts, and was diagnosed at birth, will now be able to attend Babson hockey games, practices, events and team dinners. The fourth grader is being signed to the team thanks to a nonprofit called Team IMPACT.

Williams syndrome is a genetic condition and it is caused by abnormalities with a child's chromosome seven.

It occurs when the chromosome is either missing or partially formed, which means that people with the disease are missing genes. Williams syndrome patients have a 50 percent chance of passing the condition on to their children.

The illness is typically diagnosed during childhood or infancy. While not all patients experience the same symptoms, low birth weight and unique facial features are common signs of Williams syndrome.

These include full cheeks, prominent lips, a wide mouth, large ears, a small jaw, a short and upturned nose and epicanthal folds, which are skin folds covering part of the eyes.

The condition that Walsh lives with causes developmental delays and mild intellectual disability
WHAT IS WILLIAMS SYNDROME?

Williams syndrome (WS) is present at birth and can affect anyone.

It is characterized by medical problems, including cardiovascular disease, developmental delays and learning disabilities.

These often occur alongside striking verbal abilities, highly social personalities and an affinity for music.

Children with WS may need costly and ongoing medical care and early interventions including speech or occupational therapy.

As they grow, they struggle with things like spatial relations, numbers and abstract reasoning, which can make daily tasks a challenge.

As adults, most people with WS will need supportive housing to live to their fullest potential.

Additionally, infants with the illness are prone to constipation, diarrhea, gagging and vomiting. They also have high levels of calcium in their blood, which leads to a condition called hypercalcemia.

Williams syndrome patients tend to be shorter, and they experience difficulty feeding as infants, which leads to poor growth. Some infants with the syndrome take longer to hit certain milestones such as sitting and walking.

Another unique characteristic of Williams syndrome children is their tendency to be overly friendly. Children with the disease typically are not afraid of strangers and are outgoing from birth.

However, patients endure loss of appetite, weakness, confusion, irritability and abdominal and muscle pain.

They also experience anxiety, problems paying attention and trouble sleeping.

Some people with the disease develop sexual characteristics such as pubic and armpit hair, menstruation and breast development early as a result of the disease, and heart defects plague about 75 percent of those diagnosed with Williams syndrome.

There is no cure for Williams syndrome, but specialists can help lessen patients' symptoms

As Williams syndrome patients age, they might develop joint problems limiting their range of motion as well as skeletal abnormalities.

Children with the disease are usually diagnosed by a geneticist, who may perform an echocardiogram, check the patient's blood pressure, examine kidney abnormalities and conduct genetic testing via a blood test.

While people diagnosed with the disease cannot be cured, they can work with a variety of specialists including cardiologists, nephrologists and therapists, who can help them lessen their symptoms.

Some people with Williams syndrome may have shortened lifespans because of the disease, but it is not abnormal for patients to live into their 60s.

Walsh's signing today was arranged by Team IMPACT, which connects children with illnesses to college sports teams.

 

 

Author: Maggie O'Neill
Source: Daily Mail
3.8
3.8 from 5 votes
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