Medford man’s rare genes could lead to treatment and possible cure for diseases like Parkinson’s and Alzheimer’s

East Medford resident Franklin Henry — a local celebrity of sorts known for befriending everyone he meets, from local media and government officials to business owners – has always been “one in a million” to his loving parents, Joe and Karen Henry.

Turns out, after hundreds of interactions with doctors and researchers around the world, his specific medical condition could more accurately be defined as one in nearly all 8.2 billion people in the world.

Typically described as the extremely social and outgoing autistic guy who walks all over east Medford and apparently has contact information for most of the Rogue Valley, Franklin spends his days chatting up anyone who crosses his path, walking miles around the city and making hundreds of phone calls to question those in the know.

When he was born on June 18, 1996, his parents noticed early on that Franklin was different. When he began to miss important milestones, his parents embarked on a journey that would produce an endless array of diagnoses that began before the boy’s first birthday.

When he was younger, doctors declared he had everything from Tourette Syndrome to autism.

His medical records dating back to early childhood include conditions ranging from pervasive developmental disorder — a group of neurodevelopmental disorders characterized by significant impairments in social interaction, communication and repetitive behaviors — to an almost non-condition “defined” as “Not Otherwise Specified.”

“Basically, it’s when doctors are saying, ‘You don’t quite meet the criteria for autism, but we know something is wrong,” Joe Henry told the Rogue Valley Times.

“We were told when Franklin was quite young not to ever expect him to walk or talk. And guess what he does all the time? He walks for miles every day and he talks… all day long.”

Joe Henry recalls a doctor coming closest to explaining Franklin’s condition at a young age.

“My wife and I have been to doctors all over the place. One time, we went to the city of Hope, California, to meet with a world expert on Tourette’s. He said Franklin definitely has Tourette’s. Then a doctor at OHSU said, ‘No, Franklin definitely doesn’t have Tourette’s,’” Henry said.

“That doctor told us, ‘He has Franklin Henry Syndrome. It isn’t Tourette’s. It isn’t autism. He has something that hasn’t been discovered yet.’”

In 2001, through free testing provided by Simons Searchlight’s, an international research program working to build a database and biorepository of some 185 rare genetic neurodevelopmental disorders, Franklin’s family got what felt like some of the first real answers toward a real diagnosis.

Testing determined Franklin to have a rare and unnamed neurodevelopmental condition, for which fewer than 30 cases have been documented. Turns out, his dad quipped, the doctor who called it ‘Franklin Henry Syndrome’ was on to something.

Essentially, Franklin has a haploinsufficiency, or genetic condition that occurs when one copy of a gene is lost or mutated. In Franklin’s case, his NR4A2 was impacted, resulting in extreme language and communication impairment.

In more recent years, and thankful for the world of information available online that was hardly accessible when Franklin was younger, Joe Henry has immersed himself in learning about various studies and spending time networking with medical professionals and other families around the world.

This past summer, Joe and Franklin Henry both donated blood for a program at UCLA, which processes the cells into a special type of stem cell — specially “induced pluripotent stem cells” or iPCSs — to share with genetic research programs at the University of Miami and for a facility in Denmark.

The cells will be used to work toward treatment and hopefully an eventual cure for diseases like Parkinson’s, Alzheimer’s, ALS and — researchers think — especially multiple sclerosis.

Deficiencies in NR4A2 genes are indicated in Parkinson’s and Alzheimer’s patients. Some 20% of individuals with conditions impacted by the NR4A2 gene develop the conditions early in life.

Franklin, his father points out, has experienced a diminished ability to navigate downstairs.

Franklin’s genes are similar, by some estimates, to fewer than about 50 other individuals in the world, though he could be deemed even more rare if research determines his gene to be producing an alternate protein to the one deemed to be insufficient.

While the research has provided some answers that could lead to eventual therapies and interventions, Joe Henry said his only hope is to better understand “what’s going on with Franklin” and to help his son with aspects of his life that can be difficult. In some ways, he’s learned more in watching his son interact with the world than doctors could ever learn or teach.

“All of this is not so much to fix him, so to speak, but to understand him a little better and maybe ease the anxiety Franklin often feels interacting with a world that is sometimes confused by his differences,” said the dad.

By outward appearances, Franklin is simply a local guy who knows everyone and their brother, his dad teases, and spends his time walking and talking, calling everyone from local TV and newspaper staff and city building and planning departments to the governor’s office and even the FBI.

“They have a mouse model of what’s going on with Franklin. That mouse, I guess, really likes to call people up,” his dad said with a laugh.

Joe Henry said being part of studies going on around the world has been a boost for Franklin who, if asked “what’s wrong with him,” will respond, “There’s nothing wrong with me.”

Noting an irony in a sometimes-unkind world, Henry said it’s been encouraging to find some answers and to help pose more questions and even just make connections. He’s hopeful that sharing Franklin’s story will provide some insight for the community, and those who interact with Franklin, “especially when he calls them for the forty-fifth time in a week.”

“Something I think is kind of profound, they think Adolph Hitler had Parkinson’s. If you think about it, back in the day, Hitler might have killed my son for being different,” Henry said.

“There are a lot of instances in history where people wanted to get rid of the odd one out. … Now he might be someone who helps find the cure for something that could have killed someone who might have been the one who wanted to get rid of him.”

International Rare Disease Day

Friday Feb. 29, is deemed International Rare Disease Day. Established in 2008, the day is observed on Feb. 28 in non-Leap-Year years and focuses on raising awareness for individuals living with rare diseases.

A rare disease is defined as a disease that fewer than 200,000 cases are known to exist in the world.

Medford resident Joe Henry recently testified during a House Bill committee for House Bill 2547, which would establish a Rare Disease Committee for Oregon that would provide advocacy for Oregonians navigating care for rare diseases.

Reach reporter Buffy Pollock at 458-488-2029 or bpollock@rv-times.com. Follow her on Twitter @orwritergal.