Staying positive while dealing with a rare autoimmune disease

Dawn and son John

Dawn DeBois wants to open people’s eyes to invisible illnesses and their hearts to anyone who struggles with one. Like her. This is a picture of Dawn with her oldest son John. It was taken six months before she was forced to stop working and file for disability (SSDI). To look at her, you wouldn’t know that she was very sick.

“People with invisible illnesses look completely normal on the outside. When you see us, we are usually functioning. In my situation, I’m no longer working full time, so people don’t see me when I don’t feel well. There’s a lot of doubt. People say you look fine, but the world of invisible illness, especially a rare disease such as one that I have, is a very lonely world.”

Dawn has an autoimmune disease that affects an estimated 1500 people in the United States. It’s called Lambert-Eaton Myasthenic Syndrome or LEMS. Antibodies in her immune system attack nerve cells, making them unable to send signals to muscle cells. The main symptoms are weakness and fatigue, especially in the muscles in the pelvis and upper legs where the disease usually begins.

There are two forms of LEMS. About half the cases are associated with small cell lung cancer. What triggers it in people without cancer (including Dawn) is still unknown, but it’s possible there is a genetic link to autoimmunity.

Even before her LEMS diagnosis she was dealing with several health issues — all with names as complicated sounding as the diseases themselves. Hashimoto’s, fibromyalgia, ankylosing spondylitis, and psoriatic arthritis. The medical field officially classifies her as having multiple autoimmune syndrome. A classification she would gladly rid herself of if only she could.

“I’m a hot mess, you know! I get frustrated sometimes because now that I’m being treated for everything, I have really, really, really good days. I even have good weeks sometimes. But if I overdo it I have to plan on a day or two of just resting. With any autoimmune disease, resting is so key. You have to listen to your body because if you don’t, you’ll spiral out of control.”

Dawn volunteering at 5K race 2014

Although she was only diagnosed recently, she’s probably had LEMS for many years. Things turned from bad to worse about five years ago when she was in her mid-40s. Her hands started to swell and turned beet red and her joints became extremely painful.

“My work involved meeting a lot of people and so I was shaking a lot of hands. I was in tears with every hand that I needed to shake.”

She was also always tired. Not the kind of tired that most people experience. She would work all week and spend her entire weekend trying to recover. Any exercising was out of the question. In the picture above, she was volunteering at a 5K race, but what she really wanted to do was run. She couldn’t even walk a mile without extreme pain and exhaustion.

“At that time my symptoms were flaring and Nike’s commercial “Just Do It” was all over TV. I’d think, well, I just have to do it. Friends would tell me I could sleep when I was dead, but no one understood how exhausted, how sick I would get if I didn’t listen to my body. I dealt with depression, absolutely, along with anxiety and frustration. My weight was also way up and I was just feeling very down on myself.”

Dawn Debois in body cast at 13

Living with pain (physical and emotional) began in childhood for Dawn. She went into the foster system when she was a toddler. Her mother died by suicide when she was four. At five, she was placed in a foster home where she remained until she 18.

At 13 she had major surgery on her back for severe, painful scoliosis and was in a body cast for three months. It weighed more than 60 pounds. Dawn only weighed about 115 at the time. As you might notice from the picture, she has a remarkably upbeat personality. (To this day.)

As for the various and worsening autoimmune symptoms she endured as an adult, some doctors said they were likely triggered by the trauma associated with the scoliosis surgery. Some attributed them to the emotional trauma of her early childhood and others suggested it was a combination of the two.

At one point, because she had ongoing issues of unexplained numbness, doctors thought she might have multiple sclerosis.

“That went on the back burner because they couldn’t get a definitive diagnosis. Then, when my joints started swelling out of control, multiple tests brought psoriatic arthritis to light.”

She was started on a treatment called hydroxychloroquine, which caused horrific side effects. Her face and legs became numb and she had trouble swallowing. She was taken off the treatment. It turns out it was contraindicated for people with LEMS, only Dawn hadn’t been diagnosed with it yet.

Finally, a diagnosis

At long last, in 2016, she saw a new doctor, a neurologist, who refused to give up until she had uncovered what was really causing Dawn’s mounting symptoms.

“She kept digging and digging and digging. Finally, after multiple MRIs, a lot of blood work, and yet another spinal tap, which is not easy when you have a rod in your back, she looked at me and said she thought I had an autoimmune disease that was attacking my nerves. A blood test confirmed that I had LEMS.”

The blood test that finally confirmed Dawn’s diagnosis is called the voltage-gated calcium channel antibody test or VGCC. She had hers through the Mayo Clinic — a $1300 dollar test that fortunately, was covered by her insurance.

LEMS symptoms

Looking back, the diagnosis made perfect sense. Weak leg muscles is a primary symptom and no matter what Dawn did, she could never strengthen her legs. As a teenager, she was a strong swimmer, even recruited for college teams, but her strength was never in her legs.

“One recruiting coach said ‘You know, if we could get your legs as strong as your shoulders and arms, you’d be unstoppable. You’d be in the Olympics.’ I had no calf muscles. None. I would run, I would do weights, I would do everything that everybody else did and I could not build calf muscles. LEMS starts in the legs and moves up.”

Over the years, Dawn experienced other symptoms that, in retrospect, pointed to LEMS. Here’s a full list of symptoms:

  • Weakness and fatigue, especially pelvic and thigh muscles
  • Inability to do strenuous exercise
  • Difficulty climbing stairs, hills
  • Gradual progression to other muscles
  • Dry mouth
  • Constipation
  • Erectile dysfunction
  • Decreased sweating
  • Reduced reflexes in tendons

Treatment

When Dawn was finally diagnosed with LEMS, the first line of treatment was steroids. Here’s how that worked out for her:

“This picture is of me dealing with the insane side effects from high dose steroid infusions. Having an invisible illness means people do NOT see these days. They must be seen for people to understand what we go through in order to be able to participate in life.”

Dawn getting an infusion for LEMS

She now gets monthly infusions of Immunoglobulin G antibodies —three days in a row, a four-hour infusion each day. Because LEMS is a progressive disease, she is at risk of it affecting the muscles that allow her to breathe. Antibodies donated by thousands of generous plasma donors help slow the progression. A gift that offers her the chance to lead a more normal life, at least for a while.

“They basically overrun my immune system and stop my antibodies from attacking my nerve cells. They give me three weeks of energy. It’s amazing. There can be some pretty severe reactions. For instance, they check my blood pressure every 30 minutes. The week I have it I get migraine headaches as a side effect, so it’s a pretty nonfunctional week, but it’s absolutely worth it. Those of us on it call it liquid gold because the difference it makes is palpable. You’re like the energizer bunny.”

The infusion also helps temper her arthritis and other autoimmune symptoms, which is a wonderful side benefit.

New LEMS medication approved

Dawn and other LEMS patients got some extremely promising news recently. The Food and Drug Administration (FDA) approved a LEMS-specific mediation called Firdapse that should be commercially available in early 2019.

Catalyst Pharmaceuticals, which manufactures Firdapse, stated this in a press release:

“The submission of the Firdapse NDA came following positive results from two Phase 3 studies where patients treated with Firdapse experienced rapid, significant and sustained improvements in muscle function, and reduced weakness and fatigability compared to patients receiving placebo.”

Dawn has been invited to the launch meeting for Firdapse in Florida in January. She can’t underscore the importance of this first-ever FDA approved medication for LEMS.

“It means more LEMS awareness, which will hopefully mean people will be diagnosed more quickly and treatment will be accessible to all patients.”

Dawn DeBois and LEMS friend
Dawn with friend and fellow LEMS patient Betty Ann Lasley

Helping others

Although she is still not able to handle a full-time job, Dawn manages to lead a productive life primarily advocating for and supporting other people with rare and invisible diseases. One way she does that is by writing. She has a Bangor Daily News blog called The Battle Within and also contributes articles to The Mighty, a digital health community that helps connect people facing health challenges and disabilities.

“Writing that blog is what has connected me to my LEMS family. That’s what I consider them to be now, my LEMS family. Betty Ann Lasley, who’s from Texas, was the first person to comment on my blog. I love her so much. She’s like a mom to me. She’s so funny and such a great source of support. My writing brought these people into my life and I’m so grateful.”

Dawn has been able to meet some of her blog followers, including Betty Ann, face to face at various conferences put on by organizations such as Global Genes, which connects rare disease patients, advocates, and health experts worldwide. As part of her new world, she and others are forming a 501C3 advocacy group called Life with LEMS in hopes of bringing more awareness about the disease to patients and doctors.

“Maybe we’ll stop patients from having to go a lifetime or 10 years or even a year of undiagnosed weakness and not knowing what’s going on. I’m so glad I didn’t just sit here and wallow or write but not share. I’m glad I took that risk because it truly has benefited me and other people. I wouldn’t be where I am today if I hadn’t done that.”

And now, another opportunity has presented itself. She just became a consultant with  Optio Biopharma Solutions, a company that does marketing research in the world of rare diseases.

“Among other things, I’ll be working with rare disease patients to make sure their voices are heard and needs are met. It is part-time, all remote, and the schedule will be my own. It will revolve around treatment weeks and be flexible for when I’m not feeling well. Thankfully SSDI has a back to work program that promotes trying to go back to work without fear of immediately losing benefits.”

By sharing her story and becoming an advocate for all people struggling with LEMS and other rare diseases, Dawn DeBois is certainly helping to lift the heavy veil of invisibility.

“I’m truly in hopes that others in my type of situation will be inspired to get as active as they can because they are the ones who know what it’s all about and offer so much to the world of understanding their disease state, especially in the world of rare diseases.”

Diane Atwood

About Diane Atwood

For more than 20 years, Diane was the health reporter on WCSH 6. Before that, a radiation therapist at Maine Medical Center and after, Manager of Marketing/PR at Mercy Hospital. She now hosts and produces the Catching Health podcast and writes the award-winning blog Catching Health with Diane Atwood.