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Stacy Carlson was born with congenital myasthenic syndrome, and although she received a number of opinions throughout her life, it wasn’t until age 44 that she received a definitive diagnosis. It was after her local physician referred her to Andrew Engel, M.D., a neurologist at Mayo Clinic, that DNA testing confirmed a particular gene fault responsible for Stacy's ills.
Stacy would learn that she had congenital myasthenic syndrome, an inherited neuromuscular disorder caused by defects of several types at the neuromuscular junction. It was a long road getting to that diagnosis.
Stacy recalls stories of being rushed to the emergency room as a one-month-old baby, as she was choking on baby formula. Physicians at that time attributed the problem to narrowing of her larynx. They performed a tracheotomy and placed a feeding tube, which was removed a month later. The choking issues continued, however.
During her toddler and preschool days, Stacy says she did well, reaching developmental milestones. However, in second grade, during her school's Field Day, a teacher noticed that Stacy was having difficulty keeping pace with the other children. She recommended Stacy be taken in for a checkup, where she says her doctor diagnosed her with ocular cranial somatic muscular dystrophy. But soon after, she was observed by a panel of physicians and diagnosed with congenital myopathy and scoliosis.
Stacy says that although she wore a back brace for three years and had two spinal fusion surgeries for scoliosis -- one at 11 and one at 15 years of age -- she continued to have a fairly normal childhood, with the help of physical therapy. During high school, Stacy also suffered from muscle weakness and unusual allergy-like attacks. She had to use a walker when traveling long distances, she says.
Still, Stacy finished high school, graduated from college, and became an accountant. But her symptoms continued to worsen.
By age 28, Stacy was becoming deeply concerned about the state of her health and decided to seek further medical help. “I was having trouble getting out of bed and into my car, so that I could drive to work,” she says. “It took forever to walk down a hallway.”
“I was having trouble getting out of bed and into my car, so that I could drive to work. It took forever to walk down a hallway.” - Stacy Carlson
Around this time, Stacy says she saw an article in the Muscular Dystrophy Association's Quest magazine and read the story of a man whose symptoms had been misdiagnosed since childhood. He turned out to have had facioscapulohumeral muscular dystrophy, one of the most prevalent forms of muscular dystrophy. His symptoms were similar to what Stacy was experiencing. She recalled that the albuterol she was given in her visits to the Emergency Room to treat her allergy attacks seemed to make her stronger. So she asked her doctors to consider whether she had the condition.
During this same time period, she says, “I saw a commercial on television that made me cry. There was a child in it. I wanted a baby but was feeling hopeless about my own strength and the challenges I was having with just moving,” she says. “Then I felt like God was speaking to me telling me not to give up.”
The doctors prescribed albuterol to address her symptoms while waiting for the results on the facioscapulohumeral muscular dystrophy tests, and she says it produced a dramatic improvement. The tests came back negative, and she was diagnosed with mitochondrial myopathy, but she says doctors were baffled as to why albuterol increased her strength.
She had been struggling with things like getting up from a seated position. "But within five days of the new medication, I regained 5 years of my strength,” says Stacy.
Stacy kept a journal during this time titled, “My Miracle Journal,” and with her health improving, she began to refocus her attention on her dream of marriage and a family. In time, she would meet someone special, and they became engaged and sought genetic counseling.
“We wanted to know if our child would inherit this disease,” she says. “They couldn’t give us a definitive answer, but my husband and I are Christians, and so we went on faith.”
At age 38, Stacy became pregnant. She says she became considerably weaker during pregnancy and began having difficulty swallowing food. She came to need her ventilator, previously used for sleep apnea, full time to help her breathe. Close monitoring in hospital was required for three weeks before delivery.
In 2007, her daughter, Sarah, was born.
Stacy’s strength returned post-delivery. She continued to want an answer to the question regarding her daughter possibly inheriting her condition. So, at the age of 41, she went to a Muscular Dystrophy Association clinic, where she was referred to Brigham & Women’s Hospital. She was also doing her own research and asked her physician whether her condition could be myasthenia gravis, because of her droopy eyelid. The physician told her she did not have myasthenia gravis, an autoimmune disease, but also told her about a specialist at Mayo Clinic.
“Dr. Engel had pinpointed my neuromuscular disease of congenital myasthenic syndrome,” Stacy says ... She cried tears of joy on hearing that her daughter would not develop the disease.
“I will go to Minnesota. I have a little girl. I’m very concerned about her future. She started dancing at two-and-a-half years old,” Stacy told the doctor.
Stacy wanted the answers for her daughter and needed to know if Sarah had inherited the condition that had taken so much of her own strength. “Friends helped me pay for it, and I borrowed from my retirement account. I just needed to know,” she says.
At Mayo Clinic, after a clinical trial and DNA testing, Stacy was given the answer she had waited so long to hear.
“Dr. Engel had pinpointed my neuromuscular disease of congenital myasthenic syndrome, AGRN gene fault,” Stacy says. “There was no doubt about it.” And she cried tears of joy on hearing that her daughter would not develop the disease.
“I called my mother and my husband,” she says. “I put the news on Facebook. I wanted the whole world to know. I finally had a diagnosis after 36 years.”
Today, Stacy is much stronger with a new medication. It’s helped her regain the life she’d longed for and try to keep pace with her active daughter. “As a homeschooling mom, I am on duty 24/7,” she says. “My daughter is in swimming and ballet. We are on the go a lot.”
She also has connected with a community of support through the Congenital Myasthenia Syndrome group on Facebook. “Dr. Engel’s name is shared regularly with new folks to the group,” she says. Members recently sent a “thank-you book” to Dr. Engel with photos and stories of all the people he has helped.
Stacy says she is thankful for the answers, hope and reassurance that Dr. Engel provided in the diagnosis. “I’m just in awe of him,” she says. I’m thankful for people like him that really seek to find the answers.”