Jeans for Jake for Genes! 30 Day Countdown begins…

Imagine if every minor illness for your child could result in multiple seizures and a visit to the emergency room, then an extended recovery period. Imagine if your hope for your eight-year-old was for him to simply sit up unsupported.

But imagine the joy of watching this child learn to hold toys the past year.  Imagine this child who cannot speak but lights up a room with his smile.

Michael and Nicole Zane lived with the realities of two different fevers turning into aspiration pneumonia and parainfluenza virus in the last year with their eight-year old son Jake.  But, they are happy he now can choose his own toys—especially vibrating ones that will make him giggle.

Jake was born with Pallister-Killian Syndrome (PKS).  According to the PKS kids website PKS is a chromosomal abnormality that can include the following characteristics:

  • Low muscle tone
  • Facial features such as high forehead, broad nasal bridge, and wide spaces between the eyes
  • sparse scalp hair at birth
  • high, arched palate
  • hypopigmentation
  • extra nipples
  • cognitive and developmental delays
  • diaphragmatic hernias

PKS is considered a rare disease, with fewer than 1000 cases diagnosed in the US.  But it is far from the only rare disease.  Did you know that 1 in 10 people are afflicted with rare diseases?  That’s over 350 million individuals worldwide!  Sadly, 30% of children with rare diseases die by their 5thbirthday.

30 days from today is the World Rare Disease day!  The R.A.R.E Project, which supports advocacy-research-education of rare diseases, encourages you to WEAR JEANS on 29 February 2012 to increase awareness of rare diseases, since 80% of rare diseases are genetic in origin.

You can also help unite 1 Million for RARE on the Global Genes Facebook page, or donate a bracelet to 7000 bracelets for Hope campaign.

To help support the R.A.R.E Project, I am part of a blog-hop today.  There are over 40 bloggers committed to spreading word about rare diseases, which impact so many families.  Feel free to read any of the blogs writing about rare diseases today

Hopefully by joining forces with other rare diseases, additional funding can be found to find a cure for some of these so-called orphan diseases.

For today, Jake and his two siblings, six-year old twins named Brandon and Kayla will live and love within their family.  Brandon might play soccer or ride his scooter after school, Kayla might start a new art project or attend gymnastics class. Hopefully Jake will grab onto one of his vibrating toys, while they are all surrounded with family and friends who treat Jake like any other family member.  His parents truly believe that having Jake in their lives will make his siblings more compassionate adults, as they help and love their brother daily.

Nicole, Jake, Kayla, Brandon and Michael Zane

I am blessed to be able to “share the joy that is Jake”  (quote from Jake’s mom Nicole) with all of you. C

PS.  Here are all the other blogs sharing about rare diseases today.   I am having trouble getting all the Avatars to show (WordPress issue, not mine), but you can link to any of them here.

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7 thoughts on “Jeans for Jake for Genes! 30 Day Countdown begins…

  1. mooney=mc2

    Thank you for sharing! I had never heard of Pallister-Killian Syndrome before your post! I spend a lot of time among rare disease blogs but in all of my internet travels, never heard of this one. I will be sure to click on your link (above) and learn more. Knowledge is power!

    Have a great day!
    Mindy (a fellow rare disease blogger)

  2. i will also wear my jeans on genes day and thank you for sharing never heard of this disease just like alot of people havent heard of the cowdens( actually this a larger name but i dont know how to spell it all) disease that in my family God Bless this family

  3. Thank you for sharing your son’s story in honor of Rare Disease Day. My son Gage passed away from a rare genetic disease called early-onset LAL deficiency (also known as Wolman disease) in 2009. As you know from personal experience, it is so important to be an advocate and speak up for our loved ones. My hope is that someday other families will not have to go through what we did, which is why I founded LALSolace — a support group for people and families affected by LAL deficiency. I wish your family well! Mary Pruitt

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