Speak up, be heard: Mastering the art of SMA care collaboration
Over the course of a lifetime, most people with spinal muscular atrophy (SMA) will require medical care from many types of specialized providers to help maximize their health, well-being, and mobility.
Coordinating among these various providers can be a challenge. It may require patients and their families to be proactive about communicating with providers, documenting instructions, and advocating for their own needs.
Symptoms of SMA usually develop during childhood, and most people with SMA are diagnosed early in life. As newborn screening programs now are more widespread, it’s increasingly common for babies with SMA to be diagnosed before they even start showing symptoms.
Whenever the diagnosis is made, the child’s pediatrician can be an invaluable resource in helping families connect with needed care and access to SMA treatments. Jim and Becky Berry of Myrtle Beach, South Carolina, who raised two sons with SMA, say that starting a dialogue with a pediatrician is a critical first step in getting needed care after a diagnosis.
“I think it’s very important to get your pediatrician on board,” says Jim Berry, noting it’s especially important for parents to advocate for pediatricians unfamiliar with SMA to educate themselves about the disease.
He adds that once the pediatrician is on board, parents can rely on them as “your home base” to figure out what kind of care a patient needs and connect them with specialists who can provide that care.
SMA is caused by mutations in the SMN1 gene, which results in the progressive death and degeneration of motor neurons — the specialized nerve cells that control voluntary movements.
Because SMA is primarily a disease of neurons, a neurologist, a doctor who specializes in the nervous system, is usually the lead provider of specialty care once the disease is diagnosed. Many people with SMA also have a regular primary care physician that they see for day-to-day matters. They also can give referrals to other experts when needed.
A range of other types of healthcare providers may be involved in caring for people with SMA. These can include, but aren’t limited to:
- Pulmonologists, lung specialists for breathing issues
- Orthopedics, for skeletal issues and mobility
- Physical therapists, who can help maintain physical function
- Speech therapists to address speech and mouth/throat issues
- Occupational therapists who can offer strategies for day-to-day life
- Dieticians, nutritionists, or gastroenterologist to support diet and digestive health
- Social workers, therapists, counselors and/or psychiatrists to support mental health.
Exactly which specialists are needed will depend on the individual — every person with SMA is different, and so is the type of care they require. Some SMA patients have several disease complications and require fairly involved routine care, while others with milder disease symptoms might only see a specialist occasionally.
“I’m fairly stable and typically only see my neurologist every 8 months or so,” says Collin Pollock of Garden Grove, California, who lives with SMA type 3 and runs a barbecue sauce business. Except for visits to his neurologist, Pollock says he usually only sees a primary care provider “when sick or for a physical.”
Shaniqua Granby is a lawyer with SMA who works as a disability rights advocate in Washington, D.C. Granby, whose SMA type 3 is fairly stable, says she sees her primary care provider and neurologist once or twice a year, as well as occasional meetings with a physical therapist, dietitian, orthopedic, optometrist, and gynecologist.
To help people with SMA access the multidisciplinary care they need, the advocacy organization Cure SMA is working to establish a network of specialty care centers at locations across the U.S. Currently, there are almost 30 centers, though some provide care only to children or only to adults.
The Berrys’ son Cooper, who has SMA type 3, receives care at one such center at Duke University in North Carolina. Becky Berry describes going in for routine visits, which usually take most of the day as well as necessitating a few hours of travel, as generally being “a very smooth process.”
Visits usually start with a pulmonologist running tests of Cooper’s lung function, followed by a visit with a nutritionist to discuss his diet, and a social worker who Becky Berry says is “very helpful in any kind of issues that we’re facing.”
Other regular members of Cooper’s care team at the Duke specialty clinic include a neurologist, pulmonologist, orthopedic specialist, and physical and occupational therapists.
Jim Berry, who volunteers with Cure SMA, says that having a care center with all the specialists in one place makes it easier to arrange needed care.
“One thing that I find helpful with the clinic is I don’t have to make calls to all these different people,” says Becky Berry.
Edward Smith, MD, a neurologist who helped create the specialty center at Duke, says having the key players together in one space once or twice a year can be very beneficial.
He suggests patients and their families connect with advocacy organizations like Cure SMA to help them find places to get care. And when it’s not logistically possible to physically travel to a specialty center, another increasingly available option is getting help from specialists via phone or video calls.
“One of the few good things that came out of COVID was the sort of expansion of telemedicine,” Smith says, noting this can be a great way for families far from specialty care to get counseling from experts.
Outside of specialty care centers, it often falls to SMA patients and their families to be the go-between with different healthcare providers.
“We’re like the middleman in that sense that, like, if there’s something that needs to be reciprocated back and forth, it’s usually us taking the initiative,” says Andrew Cherico, a college student with SMA type 3 living in Orlando, Florida.
Cherico said when he was growing up in New York, his neurologist would sometimes send him to other centers to get lab work done. Cherico (or his mother, when he was younger) usually had to take the initiative to ensure results were sent to the proper place, making sure that clinicians doing labs had his neurologist’s contact information and knew to send over the information. But once the contact info and instructions were given, he found clinicians were usually good about communicating between themselves without additional involvement.
“We did a lot of initiating, but … the sending back and forth, it was mostly between [the clinicians] because they had each other’s fax and such,” Cherico says.
Since moving to Florida for college, Cherico said he has become even more of a middleman, as he will sometimes need to convey instructions from his neurologists in New York to the healthcare providers at his school.
To help ensure that everything goes smoothly:
- Get information in writing to help avoid miscommunications or memory lapses.
- Document your discussion when setting up and coordinating care.
- Use online portals to stay on top of documents and communicate with multiple providers at the same time.
Regardless of what types of care a person with SMA is receiving, to get the best care possible, it’s very important patients and their families be proactive about advocating for their own needs and desires. If more help is needed, or if something about current care isn’t working, never hesitate to communicate this clearly to providers.
“You have to be the squeaky wheel. You need to advocate for what you need, because if you don’t, they’re going to give you whatever they want,” Cherico says. “Make sure you’re on top of your primary care and your neurologist care and all of the care that you need.”
Jim Berry says that for parents or other families of people with SMA, “all you can do is just continue to advocate on behalf of your child or on behalf of your family member as strongly as you can.”
Noting the healthcare system can be frustrating to navigate at the best of times, Granby advises patients should “try to stay calm and be as patient as possible.”
But since the healthcare system is often bureaucratic and slow, it’s important not to delay any communications.
If you need something right away, you may have to speak up — multiple times.
“So much of this stuff is time sensitive,” says Jim Berry. Sometimes he has had issues getting needed refills of his son’s medications.
“We can’t wait four weeks to get a return phone call from the clinic,” Berry says. “That has to be taken care of immediately.”
In addition to being in touch with providers, Berry says contacting insurance companies and/or pharmaceutical companies can be helpful in getting meds delivered on time.
Navigating life and healthcare with SMA can be a challenge, but no one has to do it alone. Family, friends, and advocacy organizations can offer assistance.
“Always first have a reliable support system, which can include friends and family who know about your situation and the care you would need, just in case they need to communicate with your physicians on your behalf,” Granby says.
She also advises patients to get in contact with other people who are living with SMA: “They may be able to advise you on setting up and coordinating care.”
Healthcare providers themselves also can also be a useful part of the SMA support network. Especially when there are difficulties with a different aspect of care, such as finding a home health aide, it pays to have an expert in your corner, such as your pediatrician or primary care doctor.
No matter what the specific situation is, there are always people available to help. Jim Berry’s first piece of advice to families of newly diagnosed children with SMA is to try to find somebody that can be a resource for you.
“And use social media to put it out there that your child has this,” says Becky Berry. “You never know who has a friend that might need that information.”
SMA News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
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