By Danielle Bradshaw from In The Cloud Copy
The chances of your child having Jordan’s syndrome are incredibly small. That, however, was not the reality for Joe Lang and his family. In fact, if it weren’t for this man’s journey, we may have never known the nature of this condition.
Joe Lang: Father on a Mission
Jordan Lang had missed many developmental milestones during the first nine years of her life and her parents Joe and Cynthia Lang had no idea why. Her first steps didn’t come until five, and at 12-years-old, she didn’t talk.
Jordan’s condition was classified as SWAN or syndrome(s) without a name. What this means is her symptoms didn’t fit into any specific, classifiable diagnoses. Doctors that saw her beforehand knew that she showed signs of a genetic disorder, but they couldn’t specify exactly what it was.
This is where Joe’s superhuman resilience comes in. By day, Joe worked as a lobbyist in Sacramento, but by night, he rifled through medical journals and studied his way through multitudes of scientific papers to try to figure out exactly what his daughter’s condition was. It was to no avail though, as even with all of his searching, he and Cynthia still had no clue what was causing Jordan’s developmental delays.
Road Map to Answers
The two parents spoke with Dr. Shailesh Asaikar, their neurosurgeon, and they were given a suggestion that they’d never considered before – to have Jordan’s genome mapped. The thing about genome mapping, though, is that it’s a pretty simple process – as easy as getting a blood test, really – but it’s very expensive. The cost of having the sample processed can be as much as $25,000.
Insurers also have a tendency to label genome mapping as “experimental” and as a result, aren’t liable to cover the costs. On top of that, genetic mapping wasn’t exactly everyone’s “Plan A” – no one knew if it would even work.
The last-ditch method actually worked to everyone’s great surprise and delight. The genetic map of Jordan’s genome finally gave an identity to the culprit. It was discovered that one of Jordan’s genes had a mutation.
The PPP2R5D gene defect was not caused by improperly tested medical drugs or exposure to some kind of harmful chemical; it was a completely random, rarely occurring, act of nature.
With this news, Joe began reaching out to various doctors, researchers, and other families with children that have the same symptoms and genetic differences as Jordan.
On his quest to find others looking to end the mystery of their kids’ condition, he came across Carol Bakhos and Nancy DeOrta, who live in Phoenix and Colorado, respectively. The two women founded a Facebook Page for PPP2R5D families and the page was and still is a powerful organizational tool that allows families to learn as well as a community for both them and their children to come together.
SWAN No More
A Columbia University researcher, Dr. Wendy Chung, wrote a paper in 2015 that talked about how the PPP2R5D gene malfunction was the mutual connection amongst the seven children who were apart of the little coalition that Joe helped to form. It was through this paper that the children were removed from the SWAN classification and their syndrome was finally given the name of Jordan’s syndrome.
Running Toward a Cure
Now that there’s an actual precedent set for proper diagnoses, there have been children in 19 countries that have been found to have Jordan’s syndrome. Dr. Chung says that there are probably around a quarter-million kids worldwide that could possibly have the PPP2R5D defect that have been misdiagnosed as having other developmental diseases.
Dr. Chung’s research has also revealed that the gene defect can possibly be reversed. This particular gene headlines other diseases like Alzheimer’s and cancer as well. If this one gene can be fully understood, it’s possible that these – and the other serious illnesses – can be cured.
The estimated amount of money that Dr. Chung will need is around $20 million so that they can begin human trials – a relatively small amount of money for medical research.
As for Joe, he says that he hasn’t begun correspondence with the National Institutes of Health (NIH) because the science involved with the PPP2R5D research is moving so quickly. He does wish to eventually build an accord once clinical trials start.
If you wish to help children with Jordan’s syndrome, you can do so through the Jordan’s Guardian Angels research fund.