2024-06-14 8:26 AM

Letter to the Editor: Spreading WS Awareness


May is Williams syndrome (WS) awareness month. As a parent of a young child with WS, it has become a mission for our family to spread awareness, raise funds and promote inclusion of people with WS and others with special needs in general.

WS is a rare genetic condition that can affect anyone. The incidence is 1 in 10,000 with approximately 30,000 Americans having WS. It occurs when there is a spontaneous deletion of 26 to 28 genes on chromosome 7. One of the missing genes is the elastin gene, which confers elasticity to organs and tissues. As a result, people with WS can have cardiovascular issues, developmental and learning challenges (including non-verbal learning disabilities). At the same time, they have extraordinary gifts, including hypersociability, an affinity for music and striking language skills.

Our family had never heard of WS before our son’s diagnosis, as the non-invasive prenatal testing and ultrasound evaluations did not indicate concerns. Our cardiologist, one of the many specialists, whom our son now sees for regular monitoring, diagnosed WS based on mild stenosis and unique facial features (i.e. puffiness around the eyes, a stellate iris pattern, full lips and long philtrum). His diagnosis was confirmed with a FISH test and microarray when he was around 6 weeks old. According to the National Institutes of Health, there are more than 7,000 rare diseases. Therefore, it is currently impossible to test for every possible condition known to exist.

Ironically, my father, Jouni Uitto, M.D., Ph.D. who was knighted by his home country of Finland last summer for his contributions to genetic research and therapy, was one of the first researchers to clone and identify mutations in the elastin gene. When asked about WS, he said “while there is considerable variability in the severity of the disease, people with WS are delightful, joyful, endearing and deserving of support.”

Our son is thriving due to the love and support from family, friends, teachers and healthcare professionals. We are deeply grateful to the Williams Syndrome Association (WSA), which will have its bi-annual conference this summer in Schaumberg, IL. I volunteer as a Family Support Specialist for the WSA. To learn more about WS, donate or find resources, please go to: williams-syndrome.org.

Jess Iverson
Falls Church





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