"I should not talk so much about myself if there were any body else whom I knew as well."
-Henry David Thoreau

Wednesday, April 29, 2015

Making a mark

I want to share something special with you all.  Most of you are long time friends and/or readers and know our history, but let me remind you of a few basic things...

After years of health and development concerns, Alex & Emma were diagnosed with PKAN (Pantothenate Kinase Associated Neurodegeneration) in 2009.  It's a very rare and progressive genetic disorder.  Emma died on March 27, 2012.  She died at Children's Mercy Hospital in Kansas City and we donated her brain to PKAN research.  We did get a basic report a few months later, pretty much just saying that they did, in fact, find evidence of PKAN.  Drew & I were glad to have helped in a tiny little way, but I had no idea that Emma was still helping in research. 
On Monday I received an email from our beloved neurologist in Kansas City.  He had been contacted by Dr. Hayflick in Oregon.  She is instrumental in PKAN research and made herself available to Dr. LePichon for consultation when Alex & Emma were alive.  Dr. Hayflick is requesting Emma's medical records for further study.  In the email string that continued between the three of us, I learned that Emma is making such a difference!  Here is one excerpt. 

... I want to personally thank you and your husband and
> let you know more about the research that has been possible only through
> your extraordinary donation. Your family¹s courage and commitment enabled
> us to make strides in our understanding of how the brain is damaged in
> PKAN. We now know that the tiniest blood vessels that carry essential
> nutrients and oxygen are progressively damaged, leading to a slow
> starvation of certain nerve cells in the central part of the brain. This
> breakthrough gives us a window into how brain cells die in PKAN and how we
> might circumvent this nutrient starvation to effect a therapy.
> Our research program spans from the laboratory to the clinic, always with
> an eye to improving the lives of children and families affected by PKAN.
> We come to work everyday to cure PKAN; that is our singular goal. We are
> interested in science, but we are intent on curing this disease. Your
> family is helping.
> I wanted your family to know that Emma is teaching us important lessons
> about PKAN. She is leading us to answers that will help families, and she
> will teach us long into the future. Thank you for your wisdom and courage
> in making this work possible. The whole PKAN community is grateful.

Now, how cool is that?  Our Emma, the little girl who always made her presence known, is still making her mark on the world.  I have kept in touch with two different families of children with PKAN.  My heart hurts for them and I so desperately pray that I could make it better.  Maybe my sassy Emma can help that to happen.  No.  Scratch that.  She IS making that happen.  It's not something that happens quickly and the rarity of this disease means there is little funding and few researchers working toward the goal of curing PKAN, but every step of the process is a step closer to a cure.  Dr. Hayflick and the team at NBIA are absolutely amazing and perhaps, with the help of Emma's brain and with Alex & Emma's medical records, they will make a discovery that will change the lives of children living with PKAN. 

Want to know how you can help?  I can think of three ways right now...
 1. Pray.  Pray with us for the researchers that continue on the journey towards a cure for PKAN.  Pray for the children living with PKAN and for the families that love & care for them.  We have been exactly where they are and I know how desperately they are hoping for anything that could possibly help their children.  Just pray. 
2. Donate.  The NBIA Disorders Association is great.  That is how we know Dr. Hayflick.  PKAN is one specific type of NBIA (Neurodegeneration with Brain Iron Accumulation).  You can visit their website at  www.nbiadisorders.org to learn more or donate directly. 
3.  Shop.  This one is super simple.  Do you shop Amazon?  Did you know that if you go to www.smile.amazon.com that you can create an account, choose a charity to support (NBIA Disorders Association) and Amazon will donate 0.5% of your eligible Amazon Smile purchase to that charity?  It's the same Amazon that you usually shop, but you get to support something great in the process.  Believe me, even if the donation amount (from something that you would have bought anyway) is only a few cents, IT MAKES A DIFFERENCE.  It adds up and it matters.  I have been doing this for the last year or so and every time I shop AmazonSmile, NBIA Disorders Association gets a donation. 


BethAnn said...

Oh how wonderful - really heart-warming news. I never knew about PKAN until I found your blog. I will have a special reason to go to Amazon and shop now :-)

Your family has blessed many and I appreciate your willingness to share your story and your daughters to help in the cure and awareness.

SO glad to have found you and your girls. With love, love, love - Beth Ann

stephanie said...

Absolutely amazing!