Living and dying with Fabry disease
● By Lev
Bob Lauer, a resident of West Grove wants to raise awareness about Fabry disease, a rare ailment that devastates its victims from the inside out.
By Steven Hoffman
On a cold winter morning earlier this year, Bob Lauer looked out the window of his home in West Grove and watched the snow fall. He was battling an upper respiratory issue that day—a common symptom of Fabry disease, a rare genetic condition that had already claimed the lives of two of his brothers. Over the last dozen agonizing years, Lauer has suffered greatly—blocked arteries, failing kidneys, an aneurism in his brain, mini-strokes, and nearly constant pain because of the affliction. He is fifty-six years old and his time with his wife and two children will be limited by Fabry disease, but Lauer faces his own mortality with a steely eyed gaze. A lesser man might be hopeless, bitter, or even angry. Lauer, instead, remains resolute. To those who know him, he is an inspiration for how he has persevered through so much. He takes life one day at a time and is grateful for each one, despite the pain. If it’s snowing outside, that’s a beautiful sight to him. He’s just glad to be alive to enjoy it. So when he sat there on that cold, snowy morning and wrote down his story he focused not on the pain, but on the love and support that he has received. He believes that his life is not defined by Fabry disease, but rather by the power of faith and love.
“I have a strong faith,” he explained. “I was brought up that way. My parents instilled that in me.”
As for Chris, his wife of 31 years, Lauer says that her love and support have helped him enjoy the highs and endure the lows.
“She has been with me through all this,” he said.
Lauer was diagnosed with Fabry disease when he was 44 years old. He did not know anything about the disease until that time. He explained the circumstances that led to the diagnosis.
“My wife and I were in the process of trying to adopt our second child and I needed to have a physical completed," he said. "One of the things that they check is your kidney function. For the creatinine level, the range should be between 0 and 1.3 and my level ended up being just a bit over that—1.5. The doctor decided to send me to see a nephrologist, who just so happened to be my brother’s doctor as well.”
By this time, his older brother, George, had suffered a heart attack, needed a kidney transplant, and also had half of his intestines removed. There was never a diagnosis connecting all these issues, but when the doctor linked the brothers’ ailments, he decided that Lauer needed to undergo a biopsy of his kidneys.
“The biopsy showed that I had Fabry,” Lauer explained. “I was told that this is a genetic disease so of course we knew what was happening to my brother. He had every symptom in the book for Fabry.”
Fabry disease is characterized by a deficiency of the enzyme alpha galactosidase A due to a mutation that causes a glycolipid known as globotriaosyceramide to accumulate within the blood vessels, other tissues, and organs. This accumulation leads to an impairment of the proper functions. The incidence of Fabry disease is estimated to be between 1 in 40,000 and 1 in 120,000 live births.
Lauer said that his family was stunned by the diagnosis.
“At first, I was in denial and I thought that the diagnosis was a mistake,” he said, explaining that up to that point he had been mostly healthy. He rode a bike and walked regularly. The only health problem that he had was some swelling in his feet and legs.
After the diagnosis, a doctor was able to get him placed on the list for a trial drug that would provide a replacement for the enzyme that he is missing. These weekly infusions helped somewhat. Lauer was able to handle his duties as a general manager for Armstrong Cable.
But over time, as his condition worsened, he underwent further testing and it was discovered that his kidneys were functioning at just 15 percent—they were no longer able to remove the toxins from his body. He was placed on the National Kidney Donor List.
“I was shocked,” he explained. “I knew that my kidneys had been getting worse. I was getting sick on my way to work on a regular basis, but I guess I didn’t want to admit to myself that I was that bad.”
Doctors also suggested that he reach out to family and friends to see if any of them would be a donor match.
“I called my wife and to inform her of the bad news," he explained. "Without hesitation, she said that she would be tested to see if she could be a donor. I believe in fate, I have a strong faith, and my wife was tested and was a perfect match.”
Early in the spring of 2009, Lauer had to undergo a procedure called a cardiac catheterization in preparation for the kidney transplant. The procedure didn’t last long, and Lauer knew right away that it was good news or really bad news. It turned out to be the latter. He had four blocked arteries.
“I was immediately scheduled for the bypass surgery,” he explained. He survived the heart bypass, but the stress of the operation caused his kidneys to get even worse.
“My creatinine level, which should be around 1 rose to 12. I could hardly lift my head off of the pillow,” he recalled. He started undergoing dialysis which is normally administered every other day, three times a week. Lauer received it every day in an effort to get the levels down.
Lauer wondered if his life was nearing an end. But his kidney functioning improved and after 16 days he was finally able to go home.
“Now, I needed to recuperate from the heart surgery so that I could have the kidney transplant,” he explained. He underwent dialysis treatments for three more months and then, in June of 2009, he had the kidney transplant at Johns Hopkins.
“The operation for both my wife and I went well,” he explained. “My wife was in a lot of pain due to the position she had to be in while they removed one of her kidneys. She was in Johns Hopkins for three days and then she was able to go home. I was in there for eight days and then I was able to go home. My wife saved my life and for that I will be eternally grateful.”
Unfortunately, during the testing process for the transplant, his wife was diagnosed with CMV, a potentially deadly virus that thousands of people are born with. If a person has a strong immune system he or she can live with the disease and never know of its presence.
“We were informed that they have performed many transplants with someone having this, and that it would be no problem,” Lauer explained. “I was given specific medications on the outside chance that I contracted CMV.”
He took the medicine for six months and thought he was no longer at risk for the virus. He said that he was told that it was OK to stop taking the medications.
“No sooner did I stop then I contracted CMV,” he explained, shaking his head at the memory.
What followed was even more horrible than what he had already experienced.
“I have to say by far this was the worst pain I have had in my entire life,” Lauer explained. “I was in and out of the hospital. The only thing that would remotely reduce the pain was morphine. It got to the point where I was in so much pain that I was begging the nurses for it.”
His wife learned how to give him the medicine that he needed and he eventually was able to return home.
Fabry disease affects each person differently and there are many different symptoms that a person can suffer from. Lauer’s energy level has diminished greatly over time. He can only walk for short periods of time before he needs rest. He has hearing loss, another common symptom, and floating black dots impair his vision. Despite these and other challenges, for a brief time he thought things were going pretty well.
“Little did I know what was about to take place,” he said.
The CMV started making his body destroy its own blood platelets, which help with the clotting process.
“Needless to say, if I am bleeding badly, it could be a serious situation,” he explained.
He woke up one morning in 2012 with blood all over his chest. He called for his wife and daughter, who both tried to apply pressure to stop the bleeding. He was rushed to the emergency room.
“They were able to stop the bleeding,” he said. “It was determined that I had a blood infection and that the port had to be removed. The doctor started to pull it out and it stuck.”
Lauer recalls that the ER doctor told him, “I will be right back. I need to get a surgeon.”
A moment later Lauer flatlined. A team of doctors and nurses were able to stabilize him until he could be flown to Johns Hopkins.
“I was in the ICU for eight days, then to the regular floor of the hospital for a few days, and then back home again,” he said.
He hoped that it would be the end of his challenges. It wasn’t.
The plant that manufactures the medication that he receives intravenously every two weeks to replace the enzyme that he is missing had a contamination. Consequently, the doses had to be rationed among the patients who needed them.
“After a period of time of not getting the full dose, I became very ill and wound up in the hospital again,” he said. “Fortunately, they were able to to make what they call a mercy plea to obtain a new drug. I immediately started on this drug and after awhile I started feeling better.”
Then, one night in 2012, he was watching television when he felt sharp pain in his head.
“It felt like someone was sticking a knife in my head,” he explained. “It would last a few seconds and then happen again. This would happen over and over.”
After enduring the pain for 24 hours, his doctor ordered an MRI.
The results were grim. Doctors told Lauer that he had lesions on the right side of his brain and an aneurysm on the left side.
“I wanted to cry,” he recalled. “How much more could I take?”
Doctors ordered a magnetic resonance angiogram, which is a more comprehensive image of the arteries. This test showed that there was a buildup in the arteries in his brain. The arteries were simultaneously widening and weakening. He knew that having the Fabry disease affect his brain was very bad. The infusion treatments have no effect once the buildup is occurring in the brain. He started having mini-strokes that will likely continue throughout the rest of his life.
Through all this, Lauer continued to work. But then, one day in 2013, he was taking part in a meeting of all the employees in the office.
“As one of the supervisors was conducting a training session, I began to get an excruciating pain in my chest,” he explained. “It felt like someone had stabbed me with a sword through my heart. Luckily, I was standing right next to a desk. I held on as I began to fall to the floor. I managed to get out of the room and into the garage area. I sat down, hoping that the pain would subside. It didn’t.”
His coworkers called 911. The ambulance arrived and he was taken to the emergency room of the closest hospital. It was one that he had never been to before.
“They were able to stabilize me and the nurse started to ask me about my medical history. She said, ‘let’s start at the head and go down to the toes.’”
It was a lengthy story to share.
And each day now makes that story a little longer and brings new challenges.
“You never know, day to day, what’s going to happen,” Lauer explained. “Some days are better than others. When you have Fabry disease, you’re going to have pain. Every day I wake up and I have pain all over.”
One of the most difficult aspects of the illness for Lauer is how hard it has hit his family.
In addition to his two brothers who passed away from the disease, his twin brother, Bill, and one of his sisters, Suzanne, also have been diagnosed with it, as well as two of his sister’s children.
“Women are actually carriers, and can have many of the same symptoms and issues that men experience,” Lauer explained. “When we look back, my mom had some of the symptoms."
Even though each case of the disease is unique, the family members with Fabry do benefit from the others' experiences.
"When we talk, that’s what we talk about," he said. "We know what we’re all going though. We know what the reality is. We know what happened to our brothers.”
Lauer also finds comfort on websites where other sufferers of the disease write about their experiences. One such site is www.laughevenwhenithurts.com, which is a place where he has written about his experiences. Another site, www.patientslikeme.com, matches up people with similar symptoms and diseases.
“We try to help each other out,” Lauer explained.
Other people in his situation might turn inward and focus on their own needs, but Lauer wants to use his energy to raise awareness about the need for more research on Fabry disease.
“I would really like to get the word out about this debilitating and fatal disease,” he explained. “I’m trying to do whatever I can to get the word out. It’s such a rare disease that some doctors haven’t even heard of it. We’re trying to get doctors to look for symptoms, especially if there are multiple symptoms. Some of the symptoms of Fabry can be so many other things. There’s no cure, but the sooner you know, the better.”
And when he shares the story about his life, about his experiences living and dying with Fabry disease, he makes sure to point out that his own story is not a tragedy.
“I think it’s a story about faith, love, and never giving up,” he explained. “Because I’m never going to give up.”
To contact Staff Writer Steven Hoffman, email firstname.lastname@example.org.