Liza Blackburn, Charles Blackburn, Sarah Blackburn
CADASIL is a rare inherited genetic blood vessel disease affecting about 4 in every 100,000 people worldwide. It can lead to strokes, cognitive impairment, and other symptoms. Likely, it is highly underdiagnosed or misdiagnosed as MS, Alzheimer’s, or dementia. CADASIL is a defect in the NOTCH3 gene, which leads to a decline in blood vessel health. Though it affects all blood vessels in the body, only the ones in the brain sustain true damage. This damage causes a loss of blood flow to deep parts of the brain which typically causes migraines, recurring strokes, and cognitive decline at an early age.
Charles Blackburn, husband, father, brother, and friend was diagnosed with CADASIL in 2021 after suffering two strokes. Those strokes and subsequent strokes have left this athletic, never-sit-still-doer with challenges that stretch farther than any of us can comprehend. Physical challenges include most frustratingly, a left leg that will not do what he wants, speech deficits, and balance difficulties. This hard-charger fights on with his well-known good sense of wit and humor, fierce independence, and daily workouts that challenge his strength, aerobic capacity, and balance.
Compounding the physical and cognitive impact of this disease is the fact that CADASIL is autosomal dominant, meaning it is inherited and only needs one parent to pass it on. Our beautiful daughters have a 50% chance of carrying this perplexing and frustrating disease.
Discovered in 1993, there is currently no cure or treatment for CADASIL. Which is why we are working to raise money for research and ultimately, a cure.
How can you help?
By September 2024, as wife and mother to these amazing people, I had become tired of sitting back and watching the disease take from my family so I decided to fight back. I will never be able to fully understand the pain and frustration that grips my husband every second of every day, but his bravery and will to fight inspired me to get up and do something. Hike2Beat CADASIL was born out of that frustration. Committed to walking as much and as far as I can to raise awareness of this disease, I am on a mission to raise money to treat, cure, and stop CADASIL. My feet might hurt, I may have blisters, but it is nothing compared to what he battles every day. In honor of his courage, I walk.
Please consider giving to support this mission at curecadasil.org
Note about donations: Curecadasil.org is currently revamping their online donation process. As such, any donations you make will go straight to their research which is GREAT. But, they do not currently have the ability to note this donation is for Hike2Beat CADASIL or the Blackburn efforts. If you send them an email at info@curecadasil.org they can make that note. Do not feel you have to jump through this extra hoop! Soon there will be a method to note your generosity is linked to our efforts. Thank you so much in advance for your help.
Why did we pick red and black for our Hike2Beat CADASIL colors?
Charles is a graduate of the University of Georgia. Go DAWGS!
Things to know
Though the disease was not considered truly “discovered” until 1993, we now know, in hindsight, that Charles’ father, who died in 1998, and Charles’ father’s father probably had CADASIL. Thanks to my sister-in-law, Charles’ brother’s wife, who brought CADASIL to our attention, we were able to dial in on this disease, pivoting from neurologists who brushed off our concerns of a CADASIL connection and were able to find a neurologist at VCU’s MCV who was well-versed in CADASIL.
Charles’ dad was thought to just have run of the mill dementia. But that probably was not the case at all. Out of logic, one has to wonder how rampant this disease truly is, if we can already point back two generations in our family. The more people who are diagnosed, the more recognition this disease gets and it goes from being rare, with not much attention or funding, to something significantly larger and more pressing. As much as we do not want more people carrying this frustrating disease through their families, for some people a more specific reason for symptoms might be helpful and empowering. This is just food for thought.