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GLOBAL GENES – ACE’S ADVENTURE WITH A RARE DELETION ON CHROMOSOME 8

Just by his smile, everybody knows our beautiful two year old son Aaron, or as we call him, our Ace. He’s the light of our lives (as most children are to their parents–but we like to think he’s got an unusual glow about him)! As soon as you meet him, it’s pretty easy to see he is a happy kid, one who is always quick to give a cheesy smile and ready to charm anyone almost instantly. He is unique. We didn’t realize just how unique until recently when we learned Aaron has a rare deletion on chromosome 8.

We were told that there is no one in the genome database with the same deletion as Aaron which, from what we have read, can be typical for these rare situations. We are fortunate to have doctors that have monitored a couple of things that were medically “off” when Aaron was born, even if they weren’t causing a problem (dilated right kidney and coloboma, for example).

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The Project 8p Foundation (Project 8p) was created in 2018 to:

  • Accelerate future treatments, not only for 8p, but potentially for other chromosome-wide diseases as well.
  • Lead with knowledge from patients. Currently, there is no cure for 8p disorders, nor is there a standard course of treatment.

The Project 8p Foundation (Project 8p) was created in 2018 to:

  • Raise transformative funding for pioneering scientific research into treatments for a complex, rare disease involving 250+ affected genes on the short arm of the 8 th chromosome (8p). Rearrangements of these genes causes significant abnormalities to the entire neurological system, thus all organs and functions of the body– with variance in cognitive functions, gross motor skills, social development and other challenges during infancy, and throughout life;
  • Empower a unified community of 8p patients and their families so they can have meaningful lives today; and
  • Accelerate future treatments, not only for 8p, but potentially for other chromosome-wide diseases as well.