Misty Somchuen

Misty Somchuen of Cleburne details her two rare diseases: Leber Hereditary Optic Neuropathy, also known as LHON, and avascular necrosis.

Cleburne resident Misty Somchuen’s Wednesday talk during the Cleburne Lions weekly luncheon was both heartbreaking and fitting, Lions President Kirk Kirkpatrick said.

“Blindness is one reason we exist and a huge effort on our part,” Kirkpatrick said.

Somchuen discussed her challenges with two rare diseases: Leber Hereditary Optic Neuropathy, also known as LHON, and avascular necrosis. Although accurate numbers remain unknown, LHON is thought to affect between one in 30,000 to one in 50,000 individuals worldwide, according to US.Optelec.com. The disease, which is hereditary, affects males much more than females though the reasons why remain unknown, according to the U.S. National Library of Medicine. Many carriers never suffer significant visual loss, according to the National Organization for Rare Disorders also known as NORD. That said, males are four to five times more likely than females to lose their vision or be affected.

LHON is caused by mutations in mitochondrial DNA, Somchuen said, and it is strictly transmitted by maternal inheritance. 

Individuals with LHON typically display symptoms during their young adult years with vision loss, if it occurs, usually happening before the person turns 40.

The acute phase is characterized by loss of central vision, including blurring or reduced perception of color, according to NORD. Affected individuals usually lose vision in one eye first followed by the second two or three months later.

“I have the rarer form of the disease,” Somchuen said. “It affects the back of the optic nerve then it shrinks up so I’m totally blind.”

There is also, unfortunately, no cure, Somchuen said.

More unfortunate still is the fact that since the condition is fairly rare in women those who suffer from it are often misdiagnosed, she said.

“My disease mimics multiple sclerosis so I was put on steroids for two-and-a-half years while they thought I had MS,” Somchuen said “Because of the steroids, I developed avascular necrosis.”

Also a rare disease, avascular necrosis is the death of bone tissue due to a lack of blood supply, according to the Mayo Clinic. Also called osteonecrosis, it can lead to tiny breaks in the bone and the bone’s eventual collapse. A broken bone or dislocated joint can interrupt the blood flow to a section of bone. Treatment can help, but the condition can’t be cured.

But for the misdiagnosis and prescription of steroids, Somchuen said she probably would not have developed avascular necrosis. For those and other reasons Somchuen said she’s telling her story in large part to spread information and, she hopes, prevent others suffering LHON from being misdiagnosed.

Research continues on LHON, she said, but so far no treatment or cure has been developed.

Somchuen also praised the National Federation of the Blind, which, among other things, provides free access to spoken-word newspapers, periodicals and other publication to blind individuals.

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