Ashley Middendorf of Smithton, Illinois,
with her parents at 2019 Family Conference.
Brent Bonfiglio of Fremont, California,
makes gelato to share and raise funds for PKAN research.
We need your help to find treatments and ultimately a cure for PKAN.
PKAN is one of 10 known ultra-rare Neurodegeneration with Brain Iron Accumulation (NBIA) disorders. Beat PKAN is a campaign to raise research funds in the battle again Pantothenate Kinase-Associated Neurodegeneration, caused by mutations in the PANK2 gene. While exceedingly rare, it is one of the most common forms of NBIA.
PKAN causes severe problems with walking, coordination, vision, speech, swallowing, and uncontrollable twisting movements which can be extreme, causing pain and even bone fractures. Cognitive awareness is not affected, making the suffering imposed by the disease especially poignant. Many children with PKAN die before the age of 10.
Onset usually occurs in childhood featuring leg weakness, spasticity, and falling, as well as vision challenges. Later, affected individuals generally get worse, and lose the ability to move or walk independently 10-15 years after symptoms begin. Dystonia, a movement disorder that causes the muscles to contract and spasm involuntarily, is always present and can be extremely painful. Problems pronouncing words and swallowing often develop, along with a loss of brain cells and tissue in the cerebellar area of the brain. As the person ages, it is common for wheelchair use to be needed by their mid-teens, and life expectancy varies. As of now, there is only treatment for some of the symptoms, and there is no cure.
Research funding is desperately needed to help speed up finding a cure.
Here’s what you can do to help us:
Help bring awareness to PKAN so we can fund potentially life-saving research. Several trials are underway or ready to start in the near future. You can make a donation, knowing that every dollar makes a difference. Just Click on the lavender button below . You could share your donation with your friends and family to encourage them to also donate.
If you like, create a personal fundraising page by clicking on the blue Raise money for PKAN button below. Share your story and say why this is important to you and your family. Add some photos too. Set your own fundraising goal, whether it is $40, $400 or $4,000. Choose any amount and just know: Every dollar makes a difference!
And don’t forget to promote your page on Facebook and Twitter.
Only have time to send an email or two to family and friends? No problem. Tell them you need their help. Ask them to share your message with their friends and family or create their own page to raise awareness. Or they can donate directly by clicking on the donate button below.
We hope you will consider joining others to fund research for treatments and a cure.
Please know that your contributions are tax-deductible to the full extent allowed by law because we are a charitable, 501(c)(3) organization. EIN 33-0712327.
Neurodegeneration with Brain Iron Accumulation is a group of rare, genetic neurological disorders
characterized by abnormal accumulation of iron in the basal ganglia. The basal ganglia is a collection
of structures deep within the base of the brain that assist in regulating movements.
In our drive to find a cure for NBIA, we provide support to families, educate the public
and accelerate research with collaborators from around the world.