Editors note: This story was updated Nov. 27 to reflect latest numbers on confirmed cases.
Nov. 20, 2018 -- Katie and J.P. Bustamante’s youngest son, Alex, died at the age of 6 -- a year and a half after contracting acute flaccid myelitis, or AFM. For the California couple, their child caught what they thought was just a cold, only to realize days later it is actually a rare and mysterious polio-like illness.
First, it paralyzed their son at a shocking speed. Eventually, the family says, it killed him. Doctors, they say, never did understand what was happening to their boy or what to do about it.
“There never was a consensus on how to treat him,” says his father, J.P. Bustamante. “Doctors were using the best of their medical knowledge to treat his symptoms as they might other, similar things, but they didn’t completely know.”
“First, we couldn’t fix him, and then we couldn’t save him,” Katie Bustamante adds through tears.
And therein lies the insidious nature of AFM. There’s no consensus about a common cause and AFM can also be extremely difficult to diagnosis – it usually takes a neurologist, spinal exam or MRI.
Symptoms include facial droop or weakness, difficulty moving the eyes, and slurred speech. Some patients experience numbness or tingling and, occasionally, pain in their arms and legs.
With Alex seemingly permanently disabled, the Bustamantes decided to turn their pain into purpose and to push for more awareness and action about this baffling illness. So in November, 6 months after their son’s death, the Bustamantes flew from California to Washington, DC, joining nine other families from across the country whose children also have AFM, a weakening of the nerves that can lead to paralysis, limb weakness, drooping facial muscles, and trouble moving the eyes.
The Bustamantes and many other families of children with AFM believe Congress and federal health officials have been too slow to investigate, research, and spread awareness about this rare illness since cases were first confirmed in 2014.
“We are trying to get D.C. to do something,” Katie Bustamante says. “This has been going on for years and they haven’t done anything to figure out why it’s happening and how to stop it.“
As part of their lobbying efforts, the Bustamantes shared their son’s story with as many in Congress as they could. Before he got sick at the age of 5, Alex was a funny and sweet preschooler who loved his family, animals, garbage trucks, and the movie Frozen and had only ever visited the doctor for regular checkups.
Then, in December 2016, a cold cycled through the family. Everyone, including Alex, seemed to recover. But a few nights later, Alex complained of a severe headache. When he woke up the next morning, he couldn’t move his thumb. The family called the doctor and immediately headed to the pediatrician’s office for an emergency appointment.
They never made it. Bustamante says her son’s body literally started breaking down on the ride there.
“It happened within a half an hour where he was perfectly fine watching a cartoon and eating yogurt to telling me in the car he couldn’t open his eyes. They were open but he couldn’t feel it. He looked so sick that I pulled over and called 911,” Katie Bustamante says. “By that evening he couldn’t stand. He was admitted to the hospital and the next day he was moved to the ICU when he went into respiratory failure and was put on a ventilator.”
Alex never recovered. The paralysis didn’t affect his legs. Instead, it spread across his upper body. He lost all neck strength and couldn’t hold up his head. He lost core strength, which affected his diaphragm and ability to breathe. While he still had some movement in his left arm, his right was limp.
“As a parent I was certainly hoping for the best-case scenario, and even as he continued to get worse I kept thinking it would turn around quickly,” J.P. Bustamante says. “I remember signing him up for Little League a week after he got sick thinking he would be better by spring. Within a few weeks, we knew that was wishful thinking.”
After several months and a variety of treatments, Alex stabilized and was sent home with two ventilators and a feeding machine. The family turned a downstairs bedroom into a hospital room, and though their life had been turned upside down, they thought their son had made it through the worst of it. “We didn’t expect him to die,” J.P. Bustamante says. “We thought worse-case scenario he will lead a normal-length life but be ventilator-dependent and severely disabled.”
Alex died in his sleep on May 20, 2018. His death certificate listed the cause as cardiac arrest.
“He was so, so sick,” Katie Bustamante says. “Who would think that something like this would happen to our child? That there is this mysterious disease that attacked him and nobody knew what to do. Now every day is like waking up in a nightmare.”
Pushing for Attention, Awareness, and Answers
During their week in D.C., 20 lawmakers and a representative from the National Institutes of Health met with the families. Anne Schuchat, MD, the principal deputy director of the CDC, also flew from Atlanta to talk with them.
“I appreciated the opportunity to listen to the families and share information about CDC efforts in responding to AFM,” Schuchat said after the meeting.
The families agree the meetings went well. “We were able to tell our stories and do some education,” says Heather Post Werdal, an organizer of the trip.
Her son Hayden was 13 when he contracted AFM in 2014. Werdal says he was the 75th confirmed case of the disease. She says Hayden first caught a nasty cold. That led to a stiff neck and tingling hands and feet a few days later. In less than 2 weeks, he was fully paralyzed and on a ventilator to breathe. Four years later, he requires a ventilator to breathe and remains a neck-down quadriplegic.
Frustrated by the lack of attention into AFM since her son got sick, Werdal co-founded a private support group on Facebook for families of children with AFM in 2015 that has since grown to nearly 600 members. She says families have been pushing federal health officials to take action as their ranks have increased, but she says the reaction has been painfully slow.
“This was handled badly. Cases were missed and the ball was dropped,” Werdal says.
The CDC says it is taking action on multiple fronts. A spokesperson says it is actively investigating AFM cases, testing specimens, monitoring disease activity, and working closely with state health departments by providing technical assistance and case confirmation.
The agency has established an AFM task force of national experts in multiple disciplines to develop a comprehensive research agenda to better understand AFM’s triggers and why the illness affects some children but not others. It has also expanded the team working on AFM, mobilized its own “disease detectives,” funded state health departments to increase doctor awareness and identify and track cases, and increased its network of neurologists to assist with classification and confirm cases.
The agency also says all states and major cities are reporting cases of AFM to the CDC. “We are confident state and local health departments are working closely with doctors to report cases. We do not believe that making further changes to the reporting process now will greatly increase the number of AFM reports,” a CDC spokesperson says.
Though they are relieved to see more attention being paid to the rare illness, many families say federal authorities haven’t been aggressive enough in learning more about this condition.
“They didn’t decide it was important to put resources to this. That is very frustrating for those of us who took their word 4 years ago when they said they were looking into it,” Werdal says. “What were they doing these last 4 years? They’re just now thinking of starting a task force? We now have hundreds more cases they could have done something about these last 3 years.”
Many families are also upset with how the CDC is reporting deaths linked to AFM. Although Alex Bustamante had AFM and died when he was 6, the CDC does not currenty count his passing as being caused by AFM. Asked specifically to explain that apparent discrepancy, the agency would only repeat its finding of zero-AFM related deaths.
A spokesperson for the agency says “there have been no deaths among AFM patients reported to CDC in 2018. In 2017, there was one death in a case with confirmed AFM, although it is unclear what role AFM played in the death.”
“The fact that the CDC has no recorded deaths is infuriating,” Katie Bustamante says. “There is a huge disconnect between what is recorded and what is actually happening. It’s tragic that the kids we’ve lost have to act as martyrs to get the attention this condition needs.”
Families say there needs to be a more coordinated system for tracking AFM cases, more awareness of the symptoms and treatment options so doctors on the front lines have guidance on how to handle cases when they see them, and a plan to stop or even reverse symptoms. Information about the illness has not trickled down to many of the doctors who first see these cases, they say.
“A lot of the families that I’ve come to meet have shared stories. Many went to emergency rooms and were turned away and told their child just had a common cold,” J.P. Bustamante says. "'Go home, there’s nothing we can do,’ is what many hear a lot, even though there may have been some neurological symptoms. The dots just weren’t connected. We need education for doctors in emergency rooms to understand this is something to be aware of. Otherwise they may think it is nothing when it certainly is.”
Mikell Sheehan agrees. Her oldest daughter, Bailey, contracted AFM in 2014 at the age of 7. She says first the pediatrician repeatedly sent them home with a viral diagnosis even though her daughter complained of extreme back and neck pain. Her daughter was then sent home from the ER when her symptoms progressed and she couldn’t lift her neck, her legs had stopped working, and she lost all feeling on her right side.
“At the hospital, they did all sorts of X-rays and couldn’t find anything. My daughter couldn’t walk. She was paralyzed, but they sent us home. I was livid,” Sheehan says. “You go to the hospital and doctor thinking they will have the answers and know what to do and how to treat your child. But then every doctor we came in contact with said, ‘We don’t know what this is and we don’t know how to treat it.'”
Bailey’s parents kept pushing and eventually succeeded in getting her a full MRI scan, which showed inflammation on her spine. Another test showed she had enterovirus 68 (EV-D68). Bailey required 2 years of intense therapy and used a walker and leg brace for a long time. Now 11, she can walk and run but still has no feeling on her entire right side.
“Our children are teaching their doctors about this. That is scary. And we as parents have to take on the role of doing our own investigating and treatment. It shouldn’t be this way,” Sheehan says.
What We Know Now
As of mid-November, the CDC says it had confirmed 440 cases of AFM in 46 states since 2014. Of those, 116 are from 2018, spread across 31 states. More than 100 other cases are still under investigation this year. More than 90% of confirmed cases are in children.
The agency says tests of stool samples show this isn’t poliovirus, but 99% of AFM patients do have a mild respiratory illness or fever -- the kind you see with a viral infection -- before AFM symptoms set in.
The CDC says about half the samples it tested this year showed enterovirus or rhinovirus, including EVA71 and EV-D68, but federal health officials say a germ or virus hasn’t been found in most cases. They believe other things, like an autoimmune condition or genetic differences, could also be playing a role.
The agency does say cases generally happen between August and October, when viruses are common. Some patients recover from their paralysis, but at least half do not.
Families with AFM believe much more information lies with their children since they have been living with the illness and its effects for years. They want health officials to do better monitoring of their cases as well as new ones.
“Doctors have to know what they are looking at before they can diagnose it. They need to know what this is,” Werdal says. “We also need tracking of our children to find out what recovery looks like. Nobody is following our kids, so they don’t know what AFM looks like after 2 or 4 years and beyond.”
Werdal and the other families who were part of the November lobbying trip plan to return to D.C. in 2019. They say even if it’s too late to change things for their children, their push for answers and attention is just beginning.
“I look around at these other parents and think it is really selfless for them to put the time and energy into trying to make change and help children when there is really not much that can be done for their own,” J.P. Bustamante says. “For the most part, any change that comes about won’t have any effect on children who already got AFM. It will be for a child who might get sick in 6 months or next year or 5 years down the line so they will have a better chance at a faster or more complete recovery than our children got.”