The right diagnosis for a rare disease

(BPT) - Aldelly always liked to wear heels — “even to the supermarket,” she says. But in 2013, when she was 25, she began to have difficulty walking in her favorite shoes. “My foot just started not working well.”

She began to experience other strange symptoms, including weird pains in her body, fatigue and troubles with her bladder. But when she saw her doctor, every symptom got explained away. Her feet problems might have been caused by a childhood of dancing. The bladder issues and fatigue could be due to having recently given birth.

Despite being told everything was OK, Aldelly knew something was wrong. One day, at a work event, she broke down. She couldn’t walk, couldn’t control her bladder and she felt exhausted. She called her primary care physician from the party, who said she was going to send her to a neurologist.

In 2016, the neurologist did some tests, including an MRI, and later called Aldelly to tell her she had a rare disease called neuromyelitis optica spectrum disorder (NMOSD).

NMOSD is a debilitating autoimmune disease of the central nervous system (CNS), where the immune system mistakes normal tissues of the CNS as foreign. NMOSD affects up to 15,000 people in the U.S., primarily women, and mainly attacks the optic nerve and spinal cord. With NMOSD, recurring attacks can lead to an accumulation of debilitating symptoms and blindness, muscle weakness, and paralysis. But understanding the disease and early diagnosis offer the best opportunities to help treat the condition.

In some ways, it was lucky that Aldelly was diagnosed quickly. Many people with NMOSD are misdiagnosed, especially since the symptoms often seem similar to those of multiple sclerosis. But with two small children, a job and a new house, Aldelly denied she had the debilitating disorder. “I just didn’t have time for this.” After other neurologists confirmed the diagnosis, she began treatment.

Still, for a long time, she pretended nothing was wrong. She would make excuses about a twisted ankle when she limped or explain away her cane by saying she’d been in a car accident. Then she decided to come out to her friends, and her wider social media community. “It allowed people to understand me, and for me to be open about my physical limitations.”

She has since learned to adjust to living with NMOSD. The disease has made her life unpredictable — she often has spasticity in her limbs, incontinence, numbness and tingling sensations. Unlike many people with NMOSD, Aldelly is grateful she hasn’t had troubles with her eyes. But it has prevented her from doing everyday activities, like take her boys to football practice and watch them play. “It’s a roller coaster,” she says.

Aldelly has a strong family support system — her parents live nearby — and she says social media has given her a powerful community. “People just started reaching out,” she says. “That’s helped a lot.”

Social media has played a key role in bringing together many people living with NMOSD, including Sumaira Ahmed, who started The Sumaira Foundation after she was diagnosed with NMOSD at the age of 25. Her foundation aims to generate global awareness, fund research to find a cure and build a community of support for patients and caregivers while providing education about NMOSD to a variety of audiences through social media events, conferences, a podcast and more.

“We're passionate about building positivity and communities of support,” says Sumaira. “None of us can go through this alone. I know that if I’m having a tough day, there are people around the world, on social media and in advocacy groups, who will help me through and support me unconditionally.”

Three other organizations — the Guthy-Jackson Charitable Foundation, the Connor B. Judge Foundation, and the Siegel Rare Neuroimmune Association — have played a critical role in creating the NMOSD support community, which also collaborates with academia and industry to drive research, and educates health care professionals and the public about what people living with the condition experience.

Aldelly knows that stress can make her symptoms worse, so she meditates, works out with a trainer and eats healthfully. “I’ve been focusing on me,” she says. “As much as I want to be a great mom and wife, if I’m not OK, my family’s not OK.” She has started writing about her experiences with the disease, “talking about things that people don’t talk about.” Bilingual in Spanish, she engages daily with people living with NMOSD all over the globe.

Aldelly says, “living with a demyelinating disease is not a death sentence, more like a constant reinvention of an adaptive lifestyle.”