According to a story from Cambridge News, Ethan Monk’s Williams syndrome managed to evade detection until just two years ago. Ethan had some peculiar symptoms, such as delayed development, unusual eating habits, and a pronounced squint. It is not uncommon for people with rare diseases to go undiagnosed for a long time, and Ethan’s story is just one of countless examples of this situation.
Williams syndrome is a developmental disorder caused by a microdeletion on one of the pair of chromosome seven. The syndrome can have a range of different mental and physical effects. Characteristics and symptoms include a distinct set of facial features, mild or moderate mental disability, low muscle tone, heart problems, and short stature. Patients also tend to have a distinctively outgoing personality, and readily interact with strangers. They tend to have higher levels of anxiety and phobias, such as phonophobia (fear of loud noises). They have a shorter lifespan due to an increased risk of cardiovascular disease. Treatments typically relate to addressing cardiovascular problems and physical therapy to help with low muscle tone. Williams syndrome patients tend to display an exceptional affection for music and often possess absolute pitch and rhythm skills, which can help with anxiety. To learn more about Williams syndrome, click here.
Ethan also displayed some less common symptoms, such as sorting matching objects. He also did not display the social skills necessary to play with other kids his age. Despite this, he had an advanced level of speech, which helped lead doctors to diagnose him with Williams syndrome. Part of the reason that Ethan’s syndrome was not detected was because he did not have any of the common heart issues that are associated with the condition.
Ethan’s mother Hayley filled out a questionnaire that helped her learn more about Williams syndrome and reinforced many of the positive and negative effects that she had observed. May is considered Williams Syndrome Awareness Month, so the family decided to seize the opportunity in order to spread more awareness about the condition and the study questionnaire that they used.
The study is called IMAGINE ID (Intellectual Disability and Mental Health: Assessing the Genomic Impact on Neurodevelopment) and is organized by Cambridge University. The study is designed to gather information about children with intellectual problems with a wide range of origins.
