EGL Genetics Blog

Mother Turned Advocate After Son’s LHON Diagnosis

Posted by Danyella Davis on May 12, 2016 9:00:00 AM

How does a 19-year-old college sophomore go from 20/20 vision to legally blind in 2 months?

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 Jeremy Poincenot, a San Diego State University student, received a shocking, life altering diagnosis just months after expressing concern of blurred vision. A diagnosis that set his mother, Lissa Poincenot, on a path of advocacy to connect patients to thought leaders and supply resources and support.

“Jeremy thought he needed glasses or contacts; I set up an appointment with the optometrist while he was home during Thanksgiving break,” said Lissa. “His initial eye exam revealed he was legally blind in one eye. He wasn’t aware of it.”

After an emergency MRI ruled out a brain tumor, Jeremy went through a series of misdiagnoses. Lissa frantically began researching the possible cause for painless central vision loss. During her search, Jeremy started to lose vision in his second eye.

“First his neurologist thought it was optic neuritis, but when he began to lose vision in his second eye, his neurologist was convinced Jeremy had neuromyelitis optica (NMO),” said Lissa. “It’s hard to overstate how brutal it is when you don’t know what’s causing your child to go blind.”

By December, Lissa's research led her to believe that Jeremy had Leber hereditary optic neuropathy (LHON), a mitochondrial disorder characterized by central vision loss, usually permanent due to atrophy of the optic nerve.

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Image simulating potential sight of someone with LHON

In January, genetic testing confirmed that Jeremy was in fact affected by the 11778G>A mutation, which was discovered in 1988 by Dr. Doug Wallace, then at Emory University. The 11778G>A mutation accounts for approximately 70% of LHON mutations in the Northern European and Australian populations.

Screen_Shot_2016-05-11_at_4.34.21_PM-1.png“My son was a pretty classic case for LHON. When we learned he had it, we immediately knew my children and I carried the same variant,” said Lissa.

 

According to the Office of Rare Diseases of the National Institutes of Health, LHON is listed as a rare disease, affecting less than 200,000 people in the U.S. It affects 1 in 30,000 to 50,000 people in northeast England and Finland. This condition usually begins in a person's teens or twenties, but can happen at any age.

 

“It’s a very challenging adjustment, and unfortunately, our society doesn’t have a very positive view of what legal blindness means. I personally had no experience,” said Lissa.  “It scared me to think that my son was going to be cut away from everyday life. He was afraid that life as he knew it was over.”

 

According to Lissa, there are only two U.S. physicians that are known leaders in the LHON community. One is Dr. Nancy Newman at Emory University and the other is Dr. Alfredo Sadun at UCLA's Doheny Eye Institute, located a few hours from she and Jeremy.


“We’ve tried to find the best professional, psychological, and medical care we could find,” said Lissa. “But initially we wondered, how would he play sports and get from place to place when you can’t drive? These things were suddenly a part of our lives.”

Over time, Jeremy learned more about assistive technology and additional support that provided him with comfort, knowledge and the wherewithal to adjust to life.

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 Lissa and Jeremy

“Initially, it wasn’t a smooth path to diagnosis, figuring out how to get from there to here,” Lissa said. “The more people I ran into, the more I realized that there just weren’t many people who knew about the disease.”

Driven to create further awareness around LHON, Lissa created LHON.org, a website that provides resources and information about the disease, how to deal with it socially and academically, and links patients to clinicians.

 

“LHON is a very unique experience. There wasn’t really anyone who understood the process of abruptly going blind in 2 months,” said Lissa. “I quit my day job because this is way too important to me.”

 

Lissa has collected more than 4,000 names of people diagnosed with LHON, carriers and friends and family members of loved ones in the LHON community.

 

“I’m also dedicated to connecting companies such as GenSight, a clinical-stage biotechnology company, with patients in hopes of finding a cure,” said Lissa.

 

Since Jeremy’s LHON diagnosis, he travels around the world as a motivational speaker, using his experience as a platform to inspire and inform. In 2010, he won the World Blind Golf Championships and with the help of his friends, continues to raise thousands of dollars for LHON research. 

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Jeremy and his father at the World Blind Golf Championships

 

“He tries to help people understand that he could’ve looked at this like the worst thing that happened in life,” said Lissa. “But why not look at it like the best thing that happened in life and turn it into an opportunity to embrace the new normal. We now have a life filled with purpose and passion.”

 

Lissa joined forces with the United Mitochondrial Disease Foundation to start the LHON conference, which brings together specialists and the LHON patient community. For more information visit LHON.

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 LHON 2015 Conference

 

*If you're interested in genetic testing for LHON, visit EGL.

 

Topics: Inherited Eye Disorders, LHON

 

 

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