CURE FOR PKAN

I wanted to share with you that our son Levi (age 4) was diagnosed with a rare genetic disorder called PKAN (Pantothenate Kinase-Associated Neurodegeneration).  PKAN is a progressive, degenerative, neurological condition and there is currently no cure or treatment.  The disease is particularly cruel in childhood, when uncontrollable twisting movements can be extreme, causing pain and even bone fractures. Levi’s awareness is not affected, making the suffering imposed by the disease especially poignant for him, and heartbreaking for us.  Without treatment, the disease will eventually rob Levi of his speech, ability to walk, motor function, sight, and – much, much too soon – his life.  

Our hearts are shattered.  Some of you know that Levi has struggled with motor skills and speech his whole life.  After years of visiting various specialists, genetic testing was our last-ditch effort to find the root cause of his challenges.  We did not expect this.  PKAN is ridiculously rare – maybe a couple hundred kids in the US, a thousand or so more around the world.  

While there is currently no treatment for PKAN, there is hope.  A team of amazing doctors and scientists at Oregon Health & Science University is committed to getting a treatment for PKAN to market.  They are so, so close.  Funding is (almost) all that stands between the promising compound they’ve developed and human trials.  The goal is to get this compound into human trials this year.  We are traveling to Portland at the end of March to meet with the team at OHSU and are hopeful that Levi will be selected to participate in the clinical trial.

The OHSU team has created a non-profit foundation, Spoonbill Foundation to fund their research and a trial of the compound they’ve developed.  We, and other affected families, are determined to raise the $2,000,000 required to get this clinical trial going ASAP.

If you are able, please consider making a donation to Spoonbill Foundation through our Go Fund Me site.

Thank you for reading, and thank you for your concern and support.  It means the world.


Sincerely,

Katie, Jeremy, Aria & Levi