Joe and Cynthia are the founders of Jordan’s Guardian Angels, a Patient Worthy partner organization that is committed to supporting research into Jordan’s syndrome, an incredibly rare disorder named after their daughter. According to a press release from Business Wire, Jordan’s Guardian Angels were awarded the RARE Founder’s Award at this year’s Global Genes RARE Champions of Hope celebration, they were awarded the RARE Founder’s award.
The RARE Founder’s award recognizes advocates who are committed to empowering, connecting, and inspiring the rare disease community with lifelong contributions and achievements.
About Jordan’s Syndrome
Jordan’s syndrome, also called PPP2R5D-related intellectual disability, is a very rare neurodevelopmental disorder. As the alternative name indicates, this disorder is the result of mutations impacting the PPP2R5D gene. This gene codes for a subunit of the PP2A enzyme. The mutation is not passed down from the parents, but instead appears at random during development. Symptoms of Jordan’s syndrome include epilepsy, autism-like behaviors, hypotonia, macrocephaly, developmental delays, abnormal facial features, early onset parkinsonism (between age 20-40), and intellectual disability. This syndrome is relatively new to science, and just over 300 cases have been confirmed. Treatment for the disease is limited to addressing symptoms. To learn more about Jordan’s syndrome, click here.
Celebrating Rare Disease Advocates
The RARE Champions of Hope celebration and awards ceremony is part of Global Genes’ 2022 RARE Disease Patient Advocacy Summit, which was held in San Diego this year. Joe and Cynthia were given the award this year in recognition of their remarkable achievements in advocating for Jordan’s syndrome research. This year, they succeeded in having millions of dollars from the California state budget allocated towards research. This funding has allowed 70 families to travel to Columbia University in 2022 to participate in a natural history and sample collection study that aims to pave the way for future clinical trials.
“What can we do for our children? You all truly are the champions of hope, and maybe most importantly our children themselves. They are the hope, the hope that we have and the hope we carry with us in all of these efforts.” – Joe Lang
Congratulations to Joe and Cynthia and Jordan’s Guardian Angels from Patient Worthy. Keep doing what you do.
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