Many rare diseases face issues when it comes to awareness, we know this. Low patient populations, minimal research, and little knowledge all contribute to this problem. One father aims to change this problem for his daughter’s rare disease: Cornelia de Lange syndrome (CdLS). He’s doing so by walking for 1,200 miles, and he’s doing it barefoot.
Walking to Raise Awareness
Chris Brannigan’s daughter lives with CdLS, a rare genetic condition characterized by physical, cognitive, and medical delays and symptoms. With his view into the rare disease world, he sees that there’s a huge lack of awareness when it comes to these conditions. In his own words:
“People don’t hear about rare diseases unless it is in your life. Nobody knows, it’s not on the radar, we need to bring it to people’s attention, into their homes.”
In order to do so, Brannigan is walking for 1,200 miles without any shoes on. He most recently passed through Elm City. Not only is he raising awareness, but he’s raising money as well, all of which will go towards future research and drug development and The Jackson Laboratory.
About Cornelia de Lange Syndrome (CdLS)
CdLS is a rare, congenital disorder that is typically the result of a sporadic mutation. There are five possible genetic mutations that lead to this condition: SMC3, NIPBL, SMC1A, HDAC8, and Rad21. If these genes are inherited, it is in an autosomal dominant or X-linked pattern, although the majority of cases are sporadic. Regardless of which mutation one has, symptoms of this condition include:
- Developmental delays in speech and hearing
- Physical developmental delays
- Failure to thrive and difficulties with feeding, chewing, and swallowing
- Delayed bone age
- Malformed legs, hands, arms, and/or feet
- Intellectual disabilities
- Behavioral issues
- Abnormal facial features
- Low hairline, small head, excessive hair growth, upturned nose, arched eyebrows that grow together, and a short, thick neck
- Cardiac, ocular, and gastrointestinal abnormalities
There is no cure for CdLS, so treatment is based on the specific symptoms that each patient presents.
You can find the source article here.
