PKS Awareness Day
- Admin
- Dec 4, 2022
- 1 min read
By Lisa Gonzales
Today, December 4th, is PKS Awareness Day and I am grateful to share more about this rare disease on Extra Lucky Moms!
Meet Paloma. She is 4 years old [soon to be 5 in a week] and diagnosed with Pallister-Killian Syndrome. This mutation consists of 2 extra copies on her short arm of her 12th chromosome. It is a mosaic syndrome, causing an array of issues, but affecting those diagnosed with PKS differently. She is 1 of about 500 reported cases in the world with this diagnosis.
The life expectancy for PKS is unknown, as it varies with each person. But as her mother, I try not to focus on that too much, although it is a common thought from time to time. I mainly focus on living out her life with joy and all the love with our family of 6 (seven including our sheepadoodle pup).
Medical mom was not a title I was prepared to have, but it has definitely changed me in ways I never expected; it's changed our family in ways I never expected. We deal with grief, but we don't let it consume us. We take each day at a time, and cheer on all the "inchstones" Paloma accomplishes. Follow along her journey with PKS, and my journey as a medical mom, homeschooling mom, and trying-to-stay-sane mom --> @ourlittlestjourney on Instagram.
You can support kids like Paloma at https://www.pkskids.net/.
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