Editors note: This story was updated on Jan. 9, 2019 to reflect the latest CDC data on number of cases.
Dec. 12, 2018 -- His story starts out like many other patients’, but it has ended with a far more positive outcome than most. His mother is convinced that’s because Billy got the right treatment early from doctors who recognized what was happening to her son, who was then 13.
“We felt that our health care providers were very proactive in recognizing Billy’s situation and very aggressive in his treatment,” says Dawn Sticklen of Joplin, MO. “They already had a protocol in place if a child came in exhibiting the symptoms Billy did, so they knew exactly what they were going to do to try and help him.”
Billy was among the lucky ones. There have been 193 confirmed AFM cases in 39 states, the most for a single year since the CDC began tracking the disease. AFM has been on the national radar only since 2014 and remains a mystery. There is little to no consensus on what causes it, how to diagnose it, or how to treat it.
AFM is a rare but serious condition. It attacks the nervous system, specifically the area of the spinal cord called gray matter, which weakens muscles and reflexes. Almost all AFM patients – almost all are young children -- first had a mild respiratory illness or fever akin to a viral infection.
In the absence of solid diagnostics, testing, and treatments, many families and doctors are relying on unproven remedies or word-of-mouth accounts of what has worked for others.
Billy’s medical challenges started with a respiratory illness that didn’t improve. Then one night he complained of neck pain, and the next morning he couldn’t use a spoon at breakfast. “As he was eating, he was having difficulty scooping cereal from the bowl into his mouth. His arms were shaking,” Sticklen recalls. She rushed him back to their primary care doctor, who sent them on to the local ER.
As Billy began to have trouble moving the full length of his arms, he was sent by ambulance to Children’s Mercy in Kansas City, MO.
Billy’s condition worsened quickly. His legs began to weaken, and an MRI showed inflammation running the length of his spinal cord. Doctors immediately started him on high doses of oral steroids and plasmapheresis, a process that cleans the blood to get rid of proteins or antibodies that could be causing harm. Still, improvement didn’t come right away.
“By the next day, he could not even hold his head up on his own. He tried to stand, and he fell and he couldn’t raise his arms,” Sticklen recalls.
Doctors continued with the treatment -- five rounds of plasmapheresis over 10 days, then 2 weeks of steroids -- and Sticklen says in time, her son’s condition stabilized. “Damage had already been done by the time they started the treatments,” she says. “But I think treatment kept the paralysis from getting worse.”
Billy spent 2 months in the hospital and another 2 months in a rehabilitation facility. Once he was sent home, he still had weakness in his left arm and shoulder and his right glute, but he could walk with the aid of a walker. The family says intensive physical, occupational, and aqua therapy, plus regular sessions with a physical trainer, brought continued improvements, and 8 months later, Billy was walking on his own.
Sticklen says her son, now a 17-year-old high school senior, is nearly back to normal. “He can’t run like he did before. He can’t lift his left arm higher than chest height, and he has a hard time holding things that are heavy in his left hand. But he continues to improve,” she says. “If you were to see him, you would not notice his deficiencies without me pointing them out to you.”
Sticklen has since befriended several other AFM parents and knows that her son’s recovery has been more complete than many others. This illness appears to be very individualized, so she says it’s hard to know the exact reasons why. But she now lobbies hard to make parents and doctors know that it’s vital to get an early diagnosis of AFM and better understand treatment options. She believes it’s the best way to help children who get this mystery illness.
“I know it’s only anecdotal, but I think early intervention is what made the difference for Billy. I think it stopped the inflammation from doing the most damage to my son, preventing more paralysis and possibly even saving his life, because it didn’t deeply impact his breathing,” Sticklen says. “I am aware this isn’t scientifically proven though, which is why the CDC needs to do even more to understand this illness and how best to treat it.”
Lack of Guidelines
The CDC says it’s investigating AFM on several fronts -- working to get more data, monitoring AFM activity, confirming cases, and working with national experts to explore treatments. But the agency stresses there are no firm recommendations or official guidelines on how to treat it.
That message is echoed by the American Academy of Pediatrics (AAP), which says the group’s Red Book, a guide on how to diagnose and treat infectious diseases, does not have anything definitive on how to best treat children who have AFM symptoms.
The CDC says there continues to be a “paucity of published evidence for treatment of AFM, limited to case reports and case-series of patients with AFM.” So it says that when doctors see AFM cases, they must consult with experts treating AFM patients.
In the hopes of learning more about what is and isn’t working, the CDC now has a comprehensive website for assessing AFM patients. It contains tips for doctors to collect blood, stool, spinal fluid, and respiratory specimens from potential patients. And it outlines what it calls interim considerations for treatment that have been updated.
The therapies referenced include:
- Corticosteroids (anti-inflammatories)
- Intravenous immunoglobulin (IVIG), which is a mixture of antibodies prepared from many donors
- Antiviral medications
- Fluoxetine (Prozac)
- Interferon, a protein naturally produced by cells to fight viruses
- And immunosuppressive medications or biological modifiers
But the agency stresses there’s no indication any of these treatments should be preferred or avoided. And while it says there’s no evidence IVIG could harm patients, it warns there is some evidence that corticosteroids, interferon, and immunosuppressants could cause harm, and there are risks with plasma exchange. The agency also points out that a recent study on a mouse model didn’t show fluoxetine to be effective.
“As research continues to identify the cause of AFM and how to best manage AFM, we hope that we will be able to manage patients with AFM even better,” says Mobeen H. Rathore, MD, a spokesman for the American Academy of Pediatrics and chief of infectious diseases and immunology at Wolfson Children’s Hospital in Jacksonville, FL.
“From what I have observed, I think the CDC has been hesitant to declare any one treatment as being a proper protocol because the numbers aren’t there yet,” Sticklen says. “But the problem of waiting for numbers to show a pattern is that too many kids have to suffer irreparable damage before they finally decide on an official protocol. It’s a Catch-22 situation, and children are stuck in the middle.”
Treatment on the Front Lines
In the absence of clear-cut treatment guidelines, hospitals are coming up with their own approaches.
“We don’t have good consensus or good data on the best therapies for AFM at this point,” says Samuel Dominguez, MD, PhD, a pediatric infectious disease expert with Children’s Hospital Colorado who has helped treat more than 20 AFM patients. “We need better studies to understand which of these is the best way forward. So for now, different institutions are taking different approaches.”
He says doctors at his hospital have done research on several therapies, including fluoxetine, which showed no effectiveness, and IVIG, which showed some benefits in a mouse model. So for now, his institution is mainly using IVIG as a first-line treatment.
“We think it is safe, and we think it may be beneficial. We think IVIG can neutralize the virus, although we’re not entirely sure,” Dominguez says. “IVIG is pooled antibodies from multiple blood donors, so if you have enough antibodies against a pathogen causing disease, it makes sense that it could neutralize it.”
Cynthia Wang, MD, an assistant professor of pediatrics and neurology at UT Southwestern Medical Center in Dallas, who’s treated patients with AFM since 2014, says her institution generally uses a combination of high-dose IV steroids, IVIG, and/or plasma exchange, even though she says none of these therapies has been shown to significantly improve the outcome of children with AFM.
“The existing data has not demonstrated that any acute treatment can halt or improve the course of AFM,” Wang says.
But, she says, it’s often difficult to know for sure what treatment will work for a child in need of medical care.
“There are autoimmune disorders of the spinal cord and nerves that can resemble AFM but respond favorably to immunotherapies,” she says.
It's better to try a treatment that historically has shown little or no benefit against AFM if it turns out the child has an autoimmune disorder unrelated to AFM.
“Sometimes we do see stabilization of weakness or mild improvements in strength following immunotherapies in children with AFM,” Wang says. “However, it is difficult to discern if these treatments are responsible for the positive changes or if they are related to the supportive care that a child receives when he or she is hospitalized.”
Parents Back Particular Treatments
Mason Smith’s family says they do think IVIG helped him. He woke up one morning in 2017 unable to stand -- days after contracting a respiratory illness -- and was rushed to a hospital in San Antonio, TX. Once there, his paralysis progressed quickly, moving up the teen’s legs and then up his back.
At first, doctors diagnosed him with Guillain-Barre syndrome, a condition where the immune system attacks the nerves. Doctors ordered treatment similar to what’s used to help many AFM patients -- a 5-day course of IVIG, followed by 5 days of steroids and 5 days of plasmapheresis. Ultimately, his diagnosis was AFM.
“As a parent, knowing what I know now, I wonder if giving him steroids with the IVIG would not have been a better approach,” says his mother, Sherri Smith. “But I do think the IVIG had something to do with the halting of the progression of the illness. We got that within 24 hours, and in the same time frame, the paralysis stopped. I think that made a difference.”
LaMay Axton thinks treatment helped her 2 1/2-year-old granddaughter, Cami, too. The toddler, whom she is raising, was affected in 2016. Axton says while the first hospital they went to didn’t seem to recognize the urgency of the situation, even as the girl’s paralysis stretched along her legs and arms and up to her diaphragm, she was eventually transferred to a military hospital that jumped into action.
By that time, 15 hours had passed, Cami’s diaphragm was paralyzed, and the child was in acute respiratory failure, a potentially deadly condition where the lungs rapidly fill with fluid, cutting off oxygen to the body. But the hospital treated her with IVIG, steroids, and fluoxetine, and LaMay believes that saved the girl’s life.
When Cami left the hospital, she needed a ventilator and was considered a quadriplegic. But today, her grandmother says, she has beaten all the odds. After a year, they removed her breathing tube, and Cami is now learning how to walk again after having upper and lower nerve transfer surgeries to help regenerate her dead nerves. Axton believes the fluoxetine helped make these improvements possible, even though recent studies have called it ineffective.
“When she started taking the [fluoxetine], that is when she started to heal. That is when we started to see hope. Her right hand moved a bit better and her right arm got stronger,” Axton says. “I don’t know what the IVIG did. I think it and the steroids probably played a role in keeping her body strong enough to keep on fighting.��
Looking for Better Options
Wang says the complexity and speed at which AFM progresses ultimately present very serious challenges for the medical field.
“In the past 4 years, there has been increasing awareness about AFM; however, it is not clear this has led to better outcomes for children who develop the disease,” she says. “This may be in part due to how quickly the illness progresses. By the time many children with AFM present to medical attention, they may already be at the peak of their weakness and already sustained significant damage to their spinal cord.”
Axton says she understands searching for a treatment plan is difficult, but she thinks if more attention had been paid to this illness when it emerged several years ago, there would now be a better understanding of how to treat it.
“If they had taken the appropriate measures to follow up with families and children, then they would know what protocols work,” she says. “Time is of the essence."
So where could answers lie? The CDC says it still doesn’t know enough about AFM causes or triggers to suggest any preventive measures. Many in the medical community say an effective antiviral would be welcome. But the CDC says it’s tested several, and none has been effective against the viruses apparently at play in AFM.
While the condition is still considered rare, its numbers are increasing every other year, and Dominguez and others wonder if ultimately a vaccine might help. “If the pattern continues, what we really are going to need is a vaccine to prevent the disease as we ultimately did with polio,” he says. “I think the best course of therapy if this continues is prevention.”
But Wang wonders about the impact of a large-scale vaccination program. “Each year, the CDC receives thousands of reports of suspected severe vaccine reactions in children. Are we prepared to take on this risk to protect 100-200 children from developing AFM every other year? That is a very difficult and heartbreaking question,” she says.
For now, if you think your child has AFM, experts say it’s best to connect with pediatric hospitals that have both neurological and infectious disease experts. There is also widespread agreement that once your child has stabilized, aggressive physical, occupational, and speech therapy can help. Several AFM parents have just created an organization, AFM Association, aimed at helping other caretakers find resources if their children are affected. They’ve launched a website, afmanow.org, they hope will provide support for parents looking for more information.
Smith says she hopes her son’s case and that of other children who have gotten AFM will lead to more answers, and she would like federal health investigators to be more aggressive in reaching out and following their cases.
“We want to be part of the solution. If you can use our information to streamline treatments or cures or prevention, then ask away. There are nearly 600 AFM families connecting on a webpage. We can respond to you. Use us. Maybe that is unconventional, but this is an unconventional situation,” Smith says.
A year later, Smith’s son Mason is a paraplegic, basically immobile from the waist down. His chest is impaired too. But he is pushing ahead with his life plans. Now in a wheelchair, he started college on time and is studying to be a lawyer.
“AFM is a terrible disease, but these kids who have it are warriors, like nothing I have ever seen,” Smith says. “In one of his college essays, Mason wrote that he didn’t know if his body would heal on its own or if science would catch up and find a way to heal him, but either way, he wasn’t going to just wait around. He was going to go on with life. And he has.”
She says as challenging as this has been for her family, she still hasn’t lost hope that more answers will be found.
“This has been a really terrible chapter in our life. I’m not going to sugarcoat that. But I can’t wait to see what happens as medicine moves forward. I pray for treatment or a cure every day -- for my child, the ones I’ve met, and any others that come after them.”