October 8: Golf for Phelan-McDermid Syndrome


In 2019, Courtney and Michael Henderson welcomed the newest member of their family – their son Luke. They were thrilled at this new addition, who they say is one of the happiest children they have ever met! But two years after Luke was born, he was diagnosed with a rare genetic disorder called Phelan-Mcdermid syndrome (PMS). 

Now, shares Fox2Now, the Henderson family will be running the first annual Locals for Luke Golf Tournament in Wentzville, Missouri to raise money for the Luke Henderson Supplemental Trust and the Phelan-Mcdermid Syndrome Foundation. The tournament, which will take place on October 8th, 2022, will include event-day contests, lunch, music, golfing, and more! 

The family hopes to not only set up Luke for future support and needs, but to help raise awareness and spur research into this condition and potential treatments. 

To learn more about the Henderson family, PMS, or how you can participate to raise funds and awareness, head over to the event website. If you would like to get involved, you may also register here. The Henderson family thanks everyone for their support. 

What is Phelan-Mcdermid Syndrome (PMS)? 

As described above, Phelan-Mcdermid syndrome is a rare genetic condition. Also known as 22q13.3 deletion syndrome, Phelan-Mcdermid syndrome results from a deletion or structural change in the 22q13 region of chromosome 22 or a SHANK3 gene mutation. In most cases, these mutations are spontaneous, meaning that this condition is not inherited from parents. An estimated 3,000 people worldwide have this condition, although there may be more due to misdiagnosis or underdiagnosis.

Typically, symptoms and characteristics manifest within the first six months following birth. However, some individuals with Phelan-Mcdermid syndrome may show signs at birth. This is a variable condition, meaning patients may differ in symptom severity and range of symptoms. Symptoms can include:

  • Neonatal hypotonia (low newborn muscle tone)
  • Developmental delays
  • Heart and kidney defects
  • Absent or delayed speech
  • Seizures
  • Autism spectrum disorder
  • A wide brow and nasal bridge
  • Deep-set eyes with puffy eyelids and long eyelashes
  • Full cheeks
  • Dolichocephaly (a longer-than-normal head shape) 
Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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