Williams Syndrome Band Bash 2023

I want to thank you in advance for taking the time to read this, and for helping us spread awareness about a rare genetic disorder. This is our personal story and experience so far. 

My name is Abigail, and on December 15, 2021 I gave birth to my second child, Isabelle. She was full term, and weighed in at only 4lb 14oz, coining her the nickname “Bitty Belle”. She was born jaundiced and had extremely low blood sugar. The first several months of her life were a constant struggle for both of us. Isabelle was not only severely underweight, but also would lose the weight she did manage to put on. She was never happy in her infancy, proving the strength of her lungs day in and day out. She had no interest in eating, and needed to be force fed, which for a baby is both scary and challenging. She could only sleep if I was holding her. Since she was my second, I knew this behavior wasn’t exactly normal and as she started aging I realized she was missing all her developmental milestones. At 5 months old we met with a pediatric gastroenterologist to see if she would need to be put on a feeding tube. Upon examining her, Dr. Linblad of Pittsburgh Children’s felt she needed to be seen by genetics.  The wait to get an appointment was longer than I had hoped, but finally at 8 months old Isabelle had her first genetics appointment.. which was then followed by visits with specialist from cardiologists, endocrinologists, and ophthalmologists, along with numerous X-rays, ultrasounds, and several blood draws. After 6 long months of waiting for results, we finally had an answer.

Williams Syndrome.

Williams Syndrome is a rare genetic disorder that happens randomly at the time of conception, effecting roughly only 1 in 10,000 births per year. Meaning the year she was born, around 365 other babies  in the world were born with this disorder. Williams syndrome is caused by not having a copy of 25 or more genes on chromosome number 7. In most cases, the gene changes (mutations) occur on their own, either in the sperm or egg that a baby develops from. However, once someone carries the genetic change, their children have a 50% chance of inheriting it. The most significant medical problem that occurs with WS is cardiovascular (heart) disease caused by narrowed arteries. Infants with WS may also have elevated levels of blood calcium. Along with the physical traits and challenges of Williams Syndrome, mild to moderate intellectual disability is also often observed in people with WS. 

Williams also comes with its blessings though! Individuals with Williams Syndrome are often very verbally skilled, and seem to have a higher rate of musicality. Among those who have increased levels of musicality there are people with Williams Syndrome who are musically gifted. Additionally, recent research suggests that the percentage of individuals with Williams Syndrome who have perfect pitch is higher than the percentage among individuals in the general population. 

Individuals with WS are among the most charming, optimistic, and empathetic people you will ever meet; which has given WS the nickname of Happiness Syndrome.  

Proceeds from this event will go towards the continued research of Dr. Marilee Martens’ within the Nationwide Children’s Hospital where she founded the Williams Syndrome Clinic in 2007. 

Research is integral to understanding Williams Syndrome and uncovering new discoveries to help inform effective therapies. 

Dr. Marilee Martens

https://wexnermedical.osu.edu/neurological-institute/researchers/marilee-martens-phd

Williams Syndrome Association 

https://williams-syndrome.org