The odds are stacked dramatically in your favor that your child does not have Jordan’s Syndrome. The exception to that is if your child has unexplained developmental disabilities. And if your child has developmental disabilities, you would like her to be diagnosed with Jordan’s Syndrome. Because that would put Joe Lang on your team.
A Determined Father
Joe Lang has the "Father of the Year" award nailed down. Frankly, he probably has little credible competition for Lifetime Achievement Award for a Father.
Joe and his wife, Cynthia, went through the first 9 years of their daughter Jordan’s life seeing her miss developmental milestones. She didn’t crawl like other kids. She walked at five. At twelve, she still didn't talk. And Joe and his wife did not know the reason why.
Their daughter was a SWAN - Syndrome Without a Name. Thinking your daughter is unique in the universe in her suffering and not knowing why is a painful place for a parent to be.
Listen to our Podcast on Jordan's Syndrome with Jordan's father, Joe Lang
Joe, a well-respected and successful lobbyist in Sacramento, spent his nights poring through medical journals, trying to discern scientific papers, reaching out to researchers. He probably studied enough to gain a master’s degree in rare diseases.
But all his study availed little. He and Cynthia still didn’t know what caused their daughter to lag so far behind developmentally.
A conversation with their Sacramento neurosurgeon, Dr. Shailesh Asaikar, convinced Joe and Cynthia to try one of the few things the family had not tried up until that point - mapping Jordan’s genome.
Genome mapping is simple as a blood test, but genome mapping is rarely a first option. The cost of processing the sample is many, many times more than a blood test - as much as $25,000. Insurers frequently classify genome mapping as "experimental, and therefore may not cover the procedure.
And the genetic mapping was a stab in the dark.
Jordan's Syndrome Has a Name
But it worked. The map of Jordan’s genome revealed the source of her difficulties. The roughly 3 billion gene base pairs in the human body are represented by letters of the alphabet. Jordan has a typo in one gene, PPP2R5D.
By typo, I mean a totally random mutation. This was not caused by a chemical leak, exposure to radiation or taking an insufficiently tested medication.
There is no villain. This was an act of nature.
This information directed Jordan’s life from nine years of uncertainty and wondering to a rocket ride to a cure.
Joe began reaching out to doctors and researchers with this news of the mutation. He began finding other families whose children had Jordan’s genetic variation and whose determination was similar to his own.
Two of the most important contacts he would make at that time were Carol Bakhos and Nancy DeOrta. Carol, who lives in Phoenix, and Nancy, a Colorado resident, had founded a Facebook page for PPP2R52 families. The page was then and remains an important organizing tool for the growing group of families in search of answers about their children.
For many families, the Facebook page became the first sense of community they had experienced with their child.
Researchers chose seven children for an initial study, largely because they couldn’t find many more than seven children. This was a completely new condition that nobody had ever studied. Jordan was patient number four.
Doctor Wendy Chung, a prominent genetic researcher from Columbia University, published a paper in 2015 that showed a common link among these seven children, the mutation in PPP2R5D. As a result, the paper moved the children out of the SWAN category. The syndrome now had a name - Jordan’s Syndrome.
Progress to a Cure Moving at Light Speed
Since the initial study, more than sixty children have been diagnosed with Jordan’s Syndrome in 19 countries. Chung estimates that as many as a quarter-million children around the world could have Jordan’s genetic mutation, many misdiagnosed as Autism or similar developmental diseases.
Most importantly, Chung’s study revealed the reason that you would like your developmentally disabled child to be diagnosed with Jordan’s Syndrome - the science says the PPP2R5D mutation can be reversed. That gene sequence also plays a role in both cancer and Alzheimer’s disease. By understanding this one gene, medicine can make great strides against diseases that are prolific killers.
I asked Joe if he had taken advantage of any of the programs created for rare diseases under the 21st Century Cures legislation signed into law in 2016. Joel says that the science is moving so quickly, his team doesn’t have time to get involved with the National Institutes of Health (NIH). That being said, he hopes to engage more when they begin clinical trials.
More broadly, Joe has been the catalyst behind much of this. Raising money. Organizing the families. Getting media attention. If not for a concerned, highly motivated father… then who creates the momentum for a SWAN to be identified, let alone cured?
Despite Joe’s efforts, and the efforts of the other families and the hard work of the research team, more research needs to be funded. You can help children like Jordan through Jordan’s Guardian Angels. And despite the success, they still need your help.
With the determination of the families, Joe’s relentless efforts and some good old-fashioned luck, Jordan’s Syndrome is sprinting from being a SWAN to being a memory, like polio.
Check out the podcast to hear Joe’s gripping story first hand.