An Unidentified Diagnosis: Fighting For Answers
- Retired gymnast Mary Lou Retton is battling a mysterious health issue affecting her lungs, however, doctors still don’t know exactly what she’s dealing with. Her story is a perfect reminder on how important it is to be your own advocate and push for answers when it comes to your health.
- When it comes to your health, be a little pushy. You know your body better than anyone else. When you see a doctor for a problem, don’t hesitate to make sure that your question is fully answered and that you are comfortable with the plan moving forward. From a doctor’s perspective, every problem should have a diagnosis, a treatment, a plan for follow-up, and a plan for what happens next if the treatment doesn’t work.
- Handling a rare disease or mysterious illness 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.
Iconic retired gymnast Mary Lou Retton, known for winning a gold medal at the 1984 Summer Olympics, was hospitalized last October with a mysterious health issue affecting her lungs, however, doctors have yet to figure out a precise reason as to why this is happening to her. The 56-year-old mom of four spoke to Entertainment Tonight in a recent interview about the unidentified serious illness she's been challenged with and how she's coping with it all. Retton, who needs to be on oxygen every day,
told ET , "I still have a hard time breathing and getting breath to speak. And I'm a speaker ... I haven't been able to really work because I don't know if I can get up on stage and give an hour long talk like I've normally done for 40 years. That's frustrating. "It's been hard, I have to say. The lungs are a different beast. It's a very long recovery. I'm still on oxygen, had a bit of a relapse awhile ago, but I'm back and regulated. It's just it's more discouragement than anything." "My lungs are pretty scarred up and they are going to stay that way ... forever," she added.
Retton initially experienced something "scary" with her lungs, causing her brain to be "oxygen-deprived" in October 2023—which she almost needed a ventilator for and her four daughters, Shayla, McKenna, Skyla, and Emma, were prepared for the worst.
Charity For Rich People? Why Do Famous People Like Olympian Mary Lou Retton Use GoFundMe For Healthcare Bills— Managing Finances Through Cancer Now, seven months later, Retton is still seeking answers.
Coping With a Diagnosis
"They still don't know what's wrong with me. They're calling it a rare form of pneumonia," Retton, who was told she would need oxygen tubes in her nose for about another year and a half, explained to ET. Thankfully, she credits her daughters for being a major support system amid this adrous time, adding, "They inspire me, and they do every day. They're extraordinary young women and my biggest accomplishment. Take my five medals. I'll take my daughters over that anytime."
As for the overwhelming emotions she is feeling amid adversity, Retton admitted, "I'm not a really depressed person, but this experience really changed me [mentally], and I've been struggling with that." She insists she is "not ready" to give up and is exciting for her daughter's wedding later this year and her first grandchild who they are prepared to welcome this summer.
And as for
Retton's daughter's crowdfunding efforts taken at the start of her health issues, her daughter McKenna Kelley previously told
USA TODAY Sports how “overwhelmed” she was by the amount of people who donated. She told the news outlet, “I don’t know if that’s ignorant of us or if that was just sweet. This was not supposed to be a big media thing. … We didn’t even think about what this would turn into. “It was simply four daughters who felt helpless who wanted to help their mom who knew that this would help take a burden off."
Advocating for Yourself, or a Loved One
Just as being your own advocate is important when it comes to appendicitis or cancer care, it is just as important for parents to advocate for a loved one, or their child's health. And by doing so, you can make sure that your doctor sees you and your child as an individual in the diagnosis and treatment process. "One of the biggest things that I did from the very beginning was asking the right questions,"
Alex Echols , a patient advocate and lymphoma survivor, tells SurvivorNet. "It's our lives on the line."
Advocating for Yourself While Navigating the Medical World He credits these questions with making sure that doctors took him seriously and viewed him as a partner in his treatment
Pushing For A Correct Diagnosis
When it comes to your health, be a little pushy. You know your body better than anyone else. When you see a doctor for a problem, don't hesitate to make sure that your question is fully answered and that you are comfortable with the plan moving forward. From a doctor's perspective, every problem should have a diagnosis, a treatment, a plan for follow-up, and a plan for what happens next if the treatment doesn't work. As a patient, if you don't feel like each of these four things has been accomplished, just ask! Even if it requires multiple visits or seeing additional providers for a second opinion, always be your own advocate.
Dr. Zuri Murrell, director of the Cedars-Sinai Colorectal Cancer Center, previously told SurvivorNet that healthcare guidelines are meant to do the right thing for the largest number of people while using the fewest resources. "The truth is you have to be in tune with your body, and you realize that you are not the statistic," he said.
Be Pushy, Be Your Own Advocate. Don't Settle Dr. Murrell says not every patient will "fit into" the mold, so it's important to "educate yourself and be your own health care advocate." "Every appointment you leave as a patient, there should be a plan for what the doc is going to do for you, and if that doesn't work, what the next plan is," Dr. Murrell said. "And I think that that's totally fair. And me as a health professional that's what I do for all of my patients."
Avoiding Provider Bias – Is Your Doctor Understanding You?
While your doctor has undergone years of training and practice, they are still human, and may come with their own set of biases that can impact how they treat patients. To combat these biases and really get the most out of your interactions with your doctor, you should provide her or him with plenty of information about your life and ask plenty of questions when things aren’t clear. To better understand how you should approach conversations with your doctor, we previously spoke with
Dr. Dana Chase , gynecologic oncologist at Arizona Oncology. According to Dr. Chase, physicians, like many of us, can be a bit biased when seeing patients. She made it clear that these biases are rarely sinister, but rather unconscious and more subtle. She explained, “We have certain beliefs that we don’t know about. We might look, for example, at an older woman, and just by the way she looks we might make certain assumptions, and we might not even know that we’re making these assumptions.”
Let’s Talk About Provider Bias Clearing up misconceptions is important, but so is understanding what your doctor is telling you, Dr. Chase noted. Overall, she advises women to speak up and ask questions when they don’t understand something. “It’s never a bad thing to ask for something to be repeated, or to ask the doctors to explain it in different terms.” So next time you go to your physician, speak up if you need clarity, so your doctor can understand you and you can understand them.
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.”
RELATED: Second (& Third) Opinions Matter When Deciding Between Surgery or Radiation 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.
RELATED: Burned Out Doctors Make More Mistakes: It's OK To Talk Openly About This With Them 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.
Cancer Research Legend Urges Patients to Get Multiple Opinions 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.
RELATED: Mental Health & Cancer: A Third of Patients Aren't Getting the Help They Need Other reasons to get a second opinion include:
- To see a doctor who has more experience treating your type of cancer
- You have a rare type of cancer
- There are several ways to treat your cancer
- You feel like your doctor isn't listening to you, or isn't giving you good advice
- You have trouble understanding your doctor
- You don't like the treatment your doctor is recommending, or you're worried about its possible side effects
- Your insurance company wants you to get another medical opinion
- Your cancer isn't improving on your current treatment
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.
Have a Rare or Unknown Disease? Here are Some Resources
All sorts of feelings of anxiety, fear, and loneliness can come with the diagnosis of a rare disease, or not knowing exactly what diagnosis you have. 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.
Seeking Care at a Comprehensive Cancer Center “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.
RELATED: If You’re Diagnosed with a Rare Cancer like Louis Vuitton Designer Virgil Abloh, How Do You Find Help? “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.
Clinical Trials Can be Life-Saving for Some 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.”
PubMed
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.
Newly-Developed Drugs
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.
Contributing: SurvivorNet Staff 
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