CULLMAN, Ala. – Show your stripes! This Sunday, Feb. 28 is Rare Disease Day, a day dedicated to raising awareness of the many rare diseases that affect people we know. Imagine being diagnosed with a rare disease for which it is often difficult to find specialized care and that many people may not have even heard about. Rare Disease Day is an effort to encourage others to learn about and recognize these difficulties. The zebra is the official symbol of rare diseases in the United States.
Barbara Lawrence, who now calls Cullman County home, has a rare disease known as Hereditary Spastic Paraplegia (HSP) that affects her muscles and is a cousin to Amyotrophic Lateral Sclerosis (ALS).
“There are only 30,000 people in the U.S. with HSP and Primary Lateral Sclerosis (PLS) and 20,000 with ALS. HSP and PLS are chronic, degenerative neuromuscular diseases like ALS. The disorders are progressive and may lead to patients being unable to walk, and more,” Lawrence said.
Symptoms of HSP are very similar to those of Multiple Sclerosis (MS), she said. “A lot of people don’t know of this and my cousin was misdiagnosed with MS, but she had HSP. The only way I knew I had it was my father passed it on to me and my sister. This disease is passed on through family.”
For Lawrence, HSP is a disease that she was born with, but the disease did not present itself until she was 41 years old. She explained the disease’s progression, “It starts in your head to your spine and then to your legs. Usually, the disease happens on one side of your body. Mine affects my right side more. What it does is from your hip to your leg, it feels like when I walk, it feels like I am a Frankenstein. I can move my legs, but I can’t bend them.”
The cold weather can make things worse for Lawrence.
She continued, “The way I walk can feel like I could be drunk. My legs are not loose like a normal person could walk. When I walk, I feel like I am able to, but I can’t because my muscles are too tight to loosen up to bend my knees. It’s very stiff.”
The disease affects each individual differently, and this leads to many being misdiagnosed.
There is no treatment for HSP. Lawrence knows of three others in Cullman County and 44 people statewide who have been diagnosed with the disease. Awareness is crucial for fundraising, and through awareness comes an increased possibility of research and clinical trials focused on her rare disease. “With a rare disease, it’s harder to get trials done or even getting a medication that can help us,” she said.
The lack of awareness of HSP and other rare diseases can lead to other problems as well, Lawrence said. “People know about cancer, so they raise money, and they help. If you don’t know anything about a disease the hospital is not going to go out and do trials.”
She added, “The other problem with this is people get depressed. I would love to help other people know about this disease. A lot of doctors don’t even know about it, so I had to search a special website to find a doctor in order to be taken care of.” There are currently no support groups for many rare diseases, which Lawrence says can create loneliness. “I try to send out notes to everyone in the state to check on them or to hopefully one day have a luncheon to meet everyone so we can all meet each other and not feel alone.”
COVID-19 has made coordinating public events nearly impossible, Lawrence said. “I just started being a state ambassador, so I am just getting to know people of my group of people who have it in this state and trying to think of what to do because of everything that is going on. So, nothing yet.”
Lawrence said she has hosted Pampered Chef parties and raised money in other ways.
How can people help? Lawrence said, “Read up on the disease. One of the things that has really hurt my family, my dad had it all his life, and nobody knew until he passed away 20 years later of this disease. If people are able to donate, please do so because we are just trying to get money to start basic trials.”
According to www.rarediseases.org, more than 25 million Americans are impacted by rare diseases although a rare disease is one that affects fewer than 200,000 individuals. There are currently over 7,000 identified rare diseases.
Said Lawrence, “You don’t realize how it changes a person’s life to have a rare disease.”
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