The Day Our Lives Changed

The Story of the PPP2R5D Gene

June 11, 2013. The day after my birthday. A beautiful thing happened. Our first grand-child, Yara, was born to my son, Siddharth and his wife Carole in Rochester NY. Her arrival was traumatic for both mother and child. During labor that lasted 28 hours, the baby had ingested amniotic fluid in her lungs. She spent six weeks in an intensive care unit surrounded by, wires, tubes, electrodes and monitors with ominously blinking signals.

Yara in intensive care

Her parents and grandparents waited with bated breath for her to emerge unscathed from this rather rude entry into the world.

Yara struggles to survive

But she survived. And has grown into this utterly beautiful, loving, charming, intelligent little girl whom her grandmother and I are completely in love with.

Yara learns to read

While she was growing up (she is now four), we realised that Yara’s development was somewhat delayed. Her movements were awkward and she did not speak. She learnt to communicate using sign language taught to her by her amazing therapists. While we knew something was wrong we lived in the hope that this was just a case of delayed development. After all Einstein did not speak until he was four!

Yara learns to walk using a walker

Her anxious parents went to various doctors and geneticists in the hope of finding a solution. Finally it was discovered that there is a gene called PPP2R5D that is the potential culprit.  An inexplicable mutation of this gene – a one -in-a -million chance event, apparently results in such defects in children.

A website – www.ppp2r5d.com explains all the issues surrounding this problem. The website says:

‘Affected individuals with the PPP2R5D variations have shared clinical characteristics including developmental delay and/or intellectual disability, macrocephaly, hypotonia, autism spectrum disorder, behavioral challenges, seizures, and distinctive facial features. The gene variation impacts the function of the brain and not the structure. This provides an opportunity to potentially correct the gene and reverse its impact’

Hope at last!  My daughter-in- law, Carole, chanced upon Joe Lang, a lobbyist based in Sacramento, California, whose eleven year old daughter, Jordan, suffers from similar problems. Joe has made it his life’s mission to find a cure and has committed to raise funds for the cause. Carole has given up her full time job as an Engineering Manager and now works with Joe and his team out of her home office in Thornton near Denver, CO, as a project manager to co-ordinate research into the PPP2R5D gene variation (now called Jordan’s Syndrome) to find a solution. 

Forty families from around the world have been discovered whose children suffer from this genetic variation. Twenty five of these families came together recently in Washington D.C. along with a team of top medical researchers led by Dr Wendy Chung, for a conference to discuss the way forward. Lab work for the study is currently underway at various research labs across the US and Europe. All expenses for the conference were paid by Jordan’s Guardian Angels - a foundation started by the Lang family.

The PPP2R5D families in Washington D.C. for the conference

The families at the steps of the Capitol in D.C.

The research team comprises investigators who are experienced in a range of relevant activities to study PPP2R5D biology, and includes geneticists, biochemists, protein modelers and model organism researchers. They will study the PPP2R5D and related genes and will work together to better understand the mechanism of Jordan’s Syndrome to find a cure.

By all accounts this was a highly energizing and emotional event for all of them. The group’s Facebook page (https://www.facebook.com/Ppp2r5d-Gene-a-place-for-family) is worth looking at.

The PPP2R5D gene has been discovered only recently and children with Jordan’s Syndrome are just beginning to be identified. Any genetic testing done earlier would not have included the PPP2R5D gene in their screening panels. As a result, there are children out there who have been misdiagnosed for over a decade.

It is estimated that at least one in every 20,000 people, possibly many more, around the world are afflicted with Jordan’s Syndrome and don’t know it. Their parents have probably spent fruitless hours and large sums of money trying to find a cure so that their children can lead a normal life. There is finally hope for all of them.

I should also mention that Dr. Wendy Chung who is leading the research into the PPP2R5D gene also runs SPARK, an organization that will cover genetic testing for autism for US residents for free (https://sparkforautism.org).

Here is a must-watch video that explains what my family and others are going through and why there is some much hope for a solution..

The purpose of this article is my attempt to create some awareness around this problem. If you know of any child anywhere in the world who potentially suffers from Jordan’s Syndrome or Autism please connect with Joe’s team on https://jordansguardianangels.org/

 The team needs to raise USD 12 million for the research and would also welcome any donation, large or small that may help to give thousands of children around the world a better life. 

Donations can be made on smile.amazon.com If you shop on this site 0.5% of your spend will go to Jordan's Guardian Angels in support of their research. If you wish to donate directly this can be done via https://jordansguardianangels.org/

?Please share this article as widely as possible especially with parents, pediatricians, geneticists and educators. This is urgent. Thank you!