Rare Disease Day
Five-year-old Bridgewater resident Parker Boyer has a rare disease and will take part in a global movement to raise important awareness for Rare Disease Day on February 29.
Parker Boyer was recently diagnosed with an extremely rare genetic disorder with less than 1,000 documented cases worldwide. It took 5 years to receive this diagnosis because of the complexity, rarity, and readily available resources to test for this genetic disorder. Wiedemann-Steiner Syndrome results from a mutation in the MLL (known as KMT2A) gene on the long arm of chromosome 11. Parker did not inherit this disorder from his parents, but he does have a 50% chance of passing this on to his potential children. WSS may be related to global developmental delays, sleeping difficulties, feeding and digestion complexities, unusual facial features, short/petite stature, hypotonia, dental issues, long eyelashes, etc. While the approximate number of individuals affected by WSS is seemingly low today, the incidence is likely far greater than present estimates. Because this is such a new syndrome and because there have been so few diagnoses, anecdotal evidence suggests an awareness of WSS is generally quite low, even amongst medical professionals. Because of the lack of research, the long term prognosis is unclear for this community of warriors.
“We are walking a road less traveled to assure the short term support and long term independence for our son. Advice from the many parents, medical professionals, and educators doesn’t exist when you are talking about an extremely rare disorder. We will pave the road for Parker and those that may come after him by spreading awareness to get the necessary support for any child diagnosed with WSS to not just survive but thrive. What would you do if it were your son?”
According to the National Institutes of Health (NIH), a disease is rare if it affects less than 200,000 people in the United States. Over 25 million Americans live with a rare disease—and nearly half of these patients are children. For the more than 7,000 known rare diseases, 90% are still without FDA-approved treatments.
In honor of Parker Boyer and Rare Disease Day, Hark Vantage, friends and family will be hosting an event:
@ Stage House at 6:00 - 10:00 pm.
1719 Amwell Road Somerset, NJ 08873
The event is open to the public. Donations will be accepted at the door. Appetizers will be provided. Raffle for a good cause.
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