Dealing with a Rare Disease
- Sarah Todd Hammer suddenly became paralyzed after experiencing an “excruciating head and neck ache” in ballet class when she was just eight years old. Now, the 22-year-old is sharing her story and has become an advocate for those living with disabilities.
- We admire Hammer’s determination ability to make the best of her life despite the disability she lives with, something many cancer warriors and people diagnosed with rare disease can look up to.
- According to the Centers for Disease Control and Prevention (CDC), acute flaccid myelitis (AFM) is an uncommon but serious neurologic condition that “affects the nervous system, specifically the area of the spinal cord called gray matter, which causes the muscles and reflexes in the body to become weak.”
- Handling a rare disease can be very overwhelming, but SurvivorNet’s experts have guidance on how to seek out specialized treatment providers.
- More common diseases might not require the same degree of specialized attention, but finding doctors with specific expertise may be necessary for rare ones. In that case, the most effective place to find a specialist is often at academic centers and comprehensive care centers.
- The SurvivorNet Clinical Trial Finder and websites called Clinicaltrials.gov and PubMed are great resources to use if you’re considering experimental treatment for your rare disease. These databases can also help you find doctors who specialize in your disease.
- Other options you may pursue include researching companies that are in the process of developing drugs to treat your specific disease and investigating the possibility of “compassionate use,” which makes drugs available to some patients before the drugs are officially approved.
Hammer, a three-time published author and student at Davidson College in North Carolina, was ultimately diagnosed with a rare neurological condition called acute flaccid myelitis (AFM) years after her initial diagnosis of transverse myelitis, a neurological disorder caused by inflammation of the spinal cord.Read More
“Here’s me enjoying life, being unapologetically me, and doing things I never would’ve gotten to do if I weren’t disabled. Life is so wonderful,” reads one of Hammer’s uplifting Instagram posts.View this post on Instagram
Describing in a TikTok video about whether she was born with a disability or acquired them somehow, she explains, “I was in ballet class and I got a really excruciating head and neck ache. And then, on my way out of class, my arms and hands stopped working.
“About 10 minutes later, I couldn’t walk, but I could still move my legs. This was all around 4pm, and the next morning, about 16 hours later, I then woke up and couldn’t move my legs either.”
She explained further how had a spinal cord injury, which had nothing to do with being in ballet class but the onset occurred during the class.
“I have a condition called acute flaccid myelitis (AFM) … It’s a neuroimmunological condition,” she said, noting how she recovered the ability to walk approximately two months later, but has had partial paralysis in her arms and hands ever since.”
Hammer further explained, ” I can’t move my left hand at all; I can’t move my shoulders; I can move my write hand but it’s extremely weak. So I have a very spotty paralysis.
“Spinal cord injuries affect your entire body, so I have lots of other health issues, in addition to my paralysis as a result of the AFM. For example, I had to have a spinal fusion because I developed scoliosis, I have reduced lung capacity, I have impaired body temperature regulation, I get tired more easily when I walk, and I very clearly have muscle atrophy in my arms and hands.”
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Looking back on when the head, neck pain, and paralysis arose amid dance class, Hammer told People, “I was immediately scared. I said, ‘Mom, my arms and hands aren’t working’ and was very freaked out through that whole ordeal. We went to urgent care which was 10 minutes away from the studio. By the time I got there I couldn’t walk.”
She ended up being flown by helicopter to a nearby hospital, where she stayed in an ER for six hours. Hammer told People in the recent interview, “I didn’t get any treatment except Motrin for my head and neck pain. That night I kept trying to sit up. I’d already lost the ability to sit up by myself at that point.”
“I kept trying to do it, and I was just very determined to make it happen. I just kept trying over and over and it wasn’t working, and I was discouraged,” she added. “So definitely at that point, I knew something was wrong, but I obviously hadn’t grasped that this was life-changing.”
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It wasn’t until the next morning when she was paralyzed from the neck down, which prompted her to return to the hospital, where she stayed for two months, including 12 days in the ICU, she told the celebrity news outlet.
“When I left the hospital in June 2010, I had been diagnosed with transverse myelitis, leaving partial paralysis in my arms and hands.”
In the hospital, Hammer underwent treatment to get plasmapheresis, which the National Institute of Health describes as “a therapeutic intervention that involves extracorporeal removal, return, or exchange of blood plasma or components.” She said this helped her regain movement in her legs. She then went to inpatient rehab, including physical and occupational therapy, for five weeks.
However, it wasn’t until she attended a summer camp with other kids like herself, with transverse myelitis, when she noticed her paralysis was “spotty, partial” unlike the other campgoers who “were paralyzed chest- or waist-down,” Hammer said.
Hammer sought a second opinion in 2018, where she was diagnosed with acute flaccid myelitis (AFM).
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Now, as she’s advocating for the condition she lives with, and others like herself, Hammer told People, “In addition to sharing my story, I’ve also started educating people on disability topics. I want to share the message that I have a great life, and not despite my disability. My disability essentially has made so many great things happen for me.
“It definitely took a while for me to accept my disability because my whole life had changed, but kids are just really resilient. I think my age helped a lot with that. My disability is an integral part of myself, and I wouldn’t want to change it because my life would not be the same.”
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Understanding Acute flaccid myelitis (AFM)
According to the Centers for Disease Control and Prevention (CDC), acute flaccid myelitis (AFM) is an uncommon but serious neurologic condition that “affects the nervous system, specifically the area of the spinal cord called gray matter, which causes the muscles and reflexes in the body to become weak.”
AFM cases have been found to have increased across the U.S. in 2014, 2016, and 2018, and most of the cases, more than 90 percent, have been in young children.
As for what causes the condition, the CDC says viruses, including enteroviruses, often lead to AFM. The CDC says the spikes of AFM cases in the past decade are believed to be caused by “enterovirus D68 (EV-D68),” which is “one of over 100 non-polio enterovirus types and is a member of the family Picornaviridae.”
“AFM can also be caused by other viruses, including flaviviruses (West Nile virus, Japanese encephalitis virus), herpesviruses, and adenoviruses,” the CDC adds.
Anyone experiencing a sudden onset of arm or leg weakness, loss of reflexes and or loss of muscle tone is urged to seek medical care immediately.
Other symptoms to look out for are: trouble moving the eyes or drooping eyelids, facial weakness or drooping, having a hard time swallowing or slurring speech, and pain in either the arms, legs, neck or back.
As for how to treat AFM, the CDC says there’s “no specific treatment”, however, “a clinician who specializes in diseases like AFM may recommend certain interventions on a case-by-case basis.”
Clinicians may suggest someone with AFM to do physical or occupational therapy as a form of treatment.
Have a Rare Disease? Here are Some Resources
All sorts of feelings of anxiety, fear, and loneliness can come with the diagnosis of a rare disease. But it’s important to know you’re not alone. Below are some helpful resources for the many people affected by lesser-known or less-researched diseases.
Academic Centers and Comprehensive Care Centers
For some rare disease warriors, community centers provide great treatment options. But for people with rare conditions, cancer or otherwise, more specialized care may be required. In that case, the most effective place to find a specialist is often at academic centers and comprehensive care centers.
In a previous conversation with SurvivorNet, Dr. Kenneth Miller, director of outpatient oncology at the University of Maryland’s comprehensive cancer center, explained what differentiates a comprehensive cancer center from other treatment providers.
“Pretty much automatically, there’s going to be a team approach [to your care],” Dr. Miller said. “Surgical oncology, medical oncology, radiation oncology, and all the support services- and also wonderful pathology and radiology.”
Dr. Miller added that at a comprehensive cancer center, all of these different specialists work together as a team to help you find the best course of treatment for your specific kind of cancer.
“We call it a tumor board, a group to go through all the details of your case, so you get a group of very smart people coming up with a plan together that is hopefully optimal and gives you the best chance of doing well.”
Clinicaltrials.gov and the SurvivorNet Clinical Trial Finder
Another place to turn to when you’ve been diagnosed with a rare disease and you’re considering experimental treatment, or trying to find specialists, is clinicaltrials.gov – a database maintained by the U.S. government that compiles privately and publicly funded clinical trials conducted around the world.
Clinical trials themselves are research studies that compare the most effective known treatment for a specific type or stage of a disease with a new approach.
Clinicaltrials.gov can help you explore possible treatment options by looking at trials that are actively recruiting. The site also provides the information of some of the most specialized doctors in a specific field since they often end up leading clinical trials that advance our understanding of diseases.
By searching your disease on Clinicaltrials.gov, you will usually come across a list of many studies. The lead researcher will be listed under the heading, “Investigators.” Lead researchers in studies on rare diseases are typically doctors who have specialized in the study of that condition.
And if you’d prefer to search for clinical trials on a more user-friendly site, try SurvivorNet’s new A.I. driven tool built on top of clinicaltrials.gov: the SurvivorNet Clinical Trial Finder. This tool is updated daily and gives users access to more than 100,000+ individual clinical trials to help them find treatment options.
To use the SurvivorNet Clinical Trial Finder, simply answer some basic questions using our custom-designed chat feature and we’ll send clinical trial options within your region right to your email. In simplifying the search, we hope to offer multiple opportunities for clinical trial sponsors and clinical research organizations to engage with patients.
“Clinical trials are critical to the development of new therapies, and as we live through this extraordinary revolution in genomics, immunotherapy and targeted therapy, it’s clear that one of the most pressing needs for patients, clinical trials sponsors, and researchers is simply a better way to find patients,” SurvivorNet CEO Steve Alperin said. “Even one percent more people successfully enrolled in clinical trials can change the world.”
Similar to clinicaltrials.gov, PubMed is another place to turn if you’re looking to research your rare disease. This website includes more than 33 million citations for biomedical literature from MEDLINE, life science journals, and online books.
If you type in your disease, you’ll see a list of studies and articles about the condition. You can even add a filter to only look at clinical trial information.
By looking at the doctors associated with the published clinical trial results and other articles, you may be able to find doctors that specialize in research for your disease.
For those who’ve been recently diagnosed with a rare disease, we also want to highlight reasons for hope since there is something of a revolution going on in the development of drugs for rare diseases.
The sequencing of the human genome has enabled doctors to take new approaches to treating some of these uncommon conditions. One step you may take after being diagnosed with a rare disease is looking into the drug companies developing drugs to treat your condition.
Compassionate Use and Off-Label Use
Drug companies may be able to help patients enroll in clinical trials, and in some rare cases, they may even be able to offer “compassionate use.” Compassionate drug use makes a new drug that has not been fully approved available to a patient facing a serious illness. This only typically happens when a patient has exhausted all other treatment options, but it is an important option to understand.
Similarly, researching drug companies may be a path to “off-label” drug use. Off-label drug use involves taking a drug that has been approved for treating one condition in the hopes that it may treat another condition that it has not yet been approved for.
Getting a new diagnosis, whether it’s cancer or a rare neurological condition like Sarah Todd Hammer, and going through the treatment process can be incredibly stressful. It’s completely normal to feel anxious, scared, sad, and so much more. The disease is a mental challenge as well as a physical one.
One way to get your mental health back in check after a diagnosis is to try to play up your strengths, Dr. Samantha Boardman, a New York-based psychiatrist and author, previously explained to SurvivorNet.
“I sometimes will ask patients, tell me about yourself when you were at your best,” she explained. “Using that story, trying to figure out what strengths come to mind, is it patience? Is it appreciation of beauty? It is perseverance? [Then we can] use those strengths in constructive ways to navigate their cancer journey.”
Dr. Boardman said another way to approach harnessing the strength you already have is by tapping into your values. This could be family, close friendships, spirituality, or commitment to a healthy lifestyle.
Reminding yourself of what your values are and how you are living accordingly is another way to unleash that inner strength.
Lastly, patients shouldn’t underestimate the value of simply opening up, Dr. Boardman said. This could mean speaking to a close family member or friend, or it could mean seeking support in other ways, by finding a therapist that meets your needs or looking into joining a support group.
Having negative feelings throughout your health journey is to be expected, however, doctors will tell you that people who find a way to work through the emotions and stay positive tend to have better outcomes.
“A positive attitude is really important,” Dr. Zuri Murrell, a colorectal surgeon at Cedars-Sinai Medical Center in Los Angeles, previously told SurvivorNet.
“I’m pretty good at telling what kind of patients are going to still have this attitude and probably going to live the longest, even with bad, bad disease. And those are patients who, they have gratitude in life.”
Leading Experts Urge Us to Be Proactive
“If I had any advice for you following a cancer diagnosis, it would be, first, to seek out multiple opinions as to the best care,” National Cancer Institute Chief of Surgery Steven Rosenberg told us in a previous interview, “because finding a doctor who is up to the latest of information is important.”
As we highlight in several areas of SurvivorNet, highly respected doctors sometimes disagree on the right course of treatment, and advances in genetics and immunotherapy are creating new options. Also, in some instances the specific course of treatment is not clear cut. That’s even more reason why understanding the potential approaches to your disease is crucial.
At the National Cancer Institute, there is a patient referral service that will “guide patients to the right group depending on their disease state so that they can gain access to these new experimental treatments,”Rosenberg says.
Furthermore, getting another opinion may also help you avoid doctor biases. For example, some surgeons own radiation treatment centers. “So there may be a conflict of interest if you present to a surgeon that is recommending radiation because there is some ownership of that type of facility,” Dr. Jim Hu, director of robotic surgery at Weill Cornell Medical Center, tells SurvivorNet.
Bottom line, being proactive about your health could be a matter of life or death. Learn as much as you can from as many experts as you can, so that you know that you did your best to take control of your health.
Contributing: SurvivorNet Staff