Pushed from pillar to post with misdiagnoses, Lea Jabre soon learned to trust her instincts about her health. After five challenging years filled with pain and frustration, she finally found answers. Her eventual diagnosis… stiff person syndrome. Lea is now determined to help lift the voice of her forgotten community

By Joe Rumney

A five-year fight for answers

In her twenties, Lea Jabre was the life and soul of the party, always “in the middle of the dance floor”. She had two health conditions, type 1 diabetes and endometriosis, but she was managing them well and her future looked bright. But in 2017, as she entered her thirties, new health problems surfaced.

Lea noticed she regularly felt bloated and she had difficulty digesting food, but hospital tests brought no conclusive explanation. Eventually, she was diagnosed (wrongly) with irritable bowel syndrome and gastroenteritis. Her doctors said that stress was a factor and that if she relaxed her symptoms would ease.

Unfortunately, Lea’s symptoms didn’t ease; in fact, they got worse. She had worrying episodes where her heart would race, and she started fainting regularly. Her doctors told her these were panic attacks and dismissed her doubts. “I kept telling the doctors, ‘I know what a panic attack looks like because I get them every time I have a blood test. These are not panic attacks!’”

Trusting her intuition that there was an underlying issue, Lea started her own research. She managed to find a cardiologist who specialised in heart rhythm, whose tests led to a diagnosis of postural tachycardia syndrome (PoTS), a nervous system dysfunction.

But the PoTS diagnosis didn’t explain why Lea’s list of symptoms was continuing to grow. Living in pain, she became ever more distressed at her doctors’ unwillingness to think again. “I’d been diagnosed with PoTS—but I couldn’t digest food, I had dry eyes, a dry mouth, and back pain, and I could feel my bones cracking. Yet, everyone kept saying there was nothing wrong with me.” She had also started having non-epileptic seizures.

Lea then noticed new and perplexing symptoms of stiffness and spasms, different to the seizures she’d had before. “I lay down in bed and I wanted to turn, but I couldn’t, and my torso was so stiff. I just wanted to hug my husband, but I couldn’t move.”

After seeing a traumatologist, Lea was referred to a specialist neurologist in Lebanon. She says that specialists saw her as a person—not just a medical case—and listened to her story attentively. “She looked at me and said, ‘Have you ever heard of a disease called stiff person syndrome?’”

Stiff person syndrome (SPS) is a rare acquired neurological disorder, in which muscles progressively stiffen and there are episodes of painful muscle spasms. Episodes may occur randomly or be triggered by events such as sudden sounds or light physical contact. The severity of SPS varies among the people who have it. Its cause is unknown but it may be an autoimmune disorder.¹     

Five years after that tentative diagnosis, Lea—still struggling with deteriorating health, still fighting for answers, still living in pain—finally received a confirmed diagnosis, from a second neurologist, Dr Scott Newsome (who has her eternal gratitude for it).

Lea “cried with joy” at the relief of being diagnosed, but her parents’ reaction was different. “My parents Googled ‘stiff person syndrome’ and the first results were about how painful the disease is and its life expectancy”. Although her fight for answers was over, her life with a serious neurological disease was only just beginning.

“When I got the stiff person syndrome diagnosis, I cried tears of joy, while my parents cried tears of despair.”

Pushing for a better future for the SPS community

Lea’s fight for a diagnosis has inspired her to be a voice for the stiff person syndrome community. She says: “I wasn’t going to contact the doctors who called me crazy and tell them they were wrong. I thought the more mature way of doing things was to become an advocate.”

One of her first advocacy pieces, published to coincide with a Rare Disease Day, became a hit on social media. Lea was inundated with hundreds of messages applauding her courage. “It was incredible. I received messages from people who were suffering and who identified with different parts of my story. That’s when I realised I could make a difference.” Her article had such an impact that she set up her own advocacy page on Instagram.

Lea is sure that Celine Dion’s recent sharing of her diagnosis with stiff person syndrome, “heartbreaking” though it was, will generate more awareness. “I was like, wow, she’s talking about what I have, and it made me cry. I hope there’s a push for more research now because a celebrity is talking about it.”

Media reports have described SPS as an incurable disease, but Lea disagrees with that: “It isn’t an incurable disease—we just haven’t had enough research to know what the cure could be.” Lea is determined to shape a brighter future for people with SPS, and she now sits on the patient advisory board for The Stiff Person Syndrome Research Foundation. “The change is beginning,” she says.

Despite her own daily difficulties, Lea won’t let her condition define her. Her dancing days may be over for now, but she still has the same spirit that made her the life and soul of the party. “I’m fully there mentally. I’m a smart woman and I’m able to express my thoughts… I have a lot going for me.”

“I’m suffering, but I’m not broken. My spirit is still there. I’m still fighting and I want to keep telling my story… I am still Lea who loves dancing, even though I can’t move my body.”

Lea has learnt the importance of standing up for yourself when you are not being heard and of never taking life for granted, and she is deeply grateful for the steadfast support of those who love her. “I’m impressed by how many people have been around me. My parents, my husband, my brothers and my friends. No one has left my side.”

Her advice for others? “Live every single day as if it was your last one.”

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References:

[1] https://rarediseases.org/rare-diseases/stiff-person-syndrome/