Families with kids with Jordan's Syndrome meet for study to learn more about rare gene mutation

- Families from around the world who have children with a rare gene mutation came to Washington D.C. to participate in a study that could lead to a medical breakthrough.

These families may be from all over, but there is a rare genetic link that brings them all together.

FOX 5 first brought you the story of Shelby and Greg Butler and their 12-year-old daughter Ella with special needs. She was recently diagnosed with a rare gene mutation called PPP2R5D.

Research suggests the mutation is involved in autism, Alzheimer’s and even cancer, but it still remains much of a mystery. Up until now, around 30 families whose child is diagnosed with it have only spoken on Facebook with each other.

“That has been so overwhelming to see these kids that are so similar to her,” said Shelby Butler.

Recently, the gene mutation was named Jordan's Syndrome after the daughter of Joe and Cynthia Lang from California.

“Had you told Cynthia and I that a year ago we were going to be doing something like this, we would have said no way,” said Joe.

They have made it their mission to gather the country's top researchers to take a deeper and wider look at Jordan's Syndrome. Lab work for the study is currently underway at the GeneDx genetics lab in Gaithersburg, Maryland.

“Historically this type of research would have taken decades maybe to do, and with the rate of science being so quick right now in terms of breakthroughs and discoveries, with gene therapy and other things, we are trying to basically take advantage of that,” said Megan Cho, the research program manager at GeneDx.

Families like the Butlers hope others will take advantage of getting tested.

“A big takeaway from all this is it gives us hope,” said Greg Butler. “Gives us hope for Ella, and really, I think it gives hope for a whole lot of other people like Ella who are younger and maybe who have not gotten a diagnosis yet.”

If you would like more information about how to get tested for Jordan’s Syndrome, ask your doctor or geneticist about taking an exome sequencing test.

It is expensive but some insurance companies may cover it. It may also be offered for free through other medical studies.

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