Armchair Advocacy for Tuberous Sclerosis Complex: A Patient’s Perspective
Summary: This narrative summarizes the experiences of a young professional woman with two chronic illnesses, and how her decision to take charge of her own care changed her life.
Keywords: Tuberous sclerosis complex, LAM, lymphangioleiomyomatosis, patient advocacy, participatory medicine.
Citation: Seefeldt NM. Armchair advocacy for tuberous sclerosis complex: a patient’s perspective. J Participat Med. 2011 Jan 5; 3:e2.
Published: January 5, 2011.
Competing Interests: The author has received an honorarium from Flince Research for participating in a research project related to Tuberous Sclerosis Complex. She is employed by Medscape, LLC, a subsidiary of WebMD Health, and is a past board member of the Tuberous Sclerosis Alliance.
I fell unexpectedly into an advocacy role during early adulthood through an interesting chain of events. I was born with a genetic disorder called Tuberous Sclerosis Complex (TSC), which causes benign tumors to appear in many of the body’s major organ systems due to either a spontaneous genetic mutation (my case) or inherited mutation from parents (who are often unaware they are affected).
The first presentation of the condition–infantile spasms–occurred when I was 7 months of age. My parents took me to a pediatrician in rural South Dakota, who didn’t know what was causing the seizures. The loose translation of his diagnosis was, “Your daughter is probably going to die.” As a result of this episode, one of the first memories my mom has of my first year of life was driving through a snowstorm to Minneapolis, Minnesota with my dad to get a second opinion while I was seizing in my car seat.
Although very little definitive information was available then, we were fortunate that an astute pediatric neurologist pointed us in the right direction. He suspected TSC, and later on a computed tomography (CT) scan confirmed his suspicion. I began taking seizure medication until I was 5 years old. Since I went several years without any additional seizures, my mother convinced the physician to take me off the drugs. One reason for this was because she was concerned that teachers would treat me differently if they knew about my condition.
My life was quite uneventful until after college. Then things took a very frightening and unexpected turn. On January 1, 2002, I greeted the New Year from a hospital room with an oxygen mask strapped to my face. Two days earlier, my lung collapsed but I didn’t seek treatment because I thought the pain was due to a pulled muscle. At work the next day, my manager noticed that my lips were blue and, since I had begun to feel progressively worse, I went first to my doctor’s office and, from there, was sent to the emergency room after a chest x-ray revealed a spontaneous pneumothorax.
A curious resident started asking questions. He looked at my medical history and asked me if I had ever heard of a condition called lymphangioleiomyomatosis (LAM), which is common in women with my genetic condition. I credit his curiosity with saving my life. I listened and took note of what he said, but it was nearly 2 years before I received a definitive diagnosis.
The physicians were unable to confirm my diagnosis at the time of that first lung collapse because the classic findings were not present then. My CT scan and chest x-ray had no clinical signs or radiological markings for LAM (cysts or characteristic smooth muscle markings). The only sign of LAM was the pneumothorax, which could have been caused by a number of other conditions. But this episode served as an important red flag. Had the resident not done his homework, I could have gone for years without a proper diagnosis after I started having problems.
In 2003, I started having bronchitis, shortness of breath, and chest tightness when exposed to extremes of temperature. I decided to get screened for LAM, and, at this point, the classic signs of the disease were evident on the CT scan: Numerous small cysts and smooth muscle markings. I also became aware of the start of kidney issues. I had four angiomyolipomas (AMLs) ranging in size from 3 cm to 7.5 cm, which ultimately led to numerous surgeries. I was devastated. The average life expectancy for most LAM patients was 5-10 years post-diagnosis, and I was 26 at the time. I was told that perhaps the disease might progress more slowly than average due to my TSC diagnosis, since patients who have the two conditions seem to have fewer cysts and slower growth than those who only have LAM. There is a common genetic link to both diseases and about a third of women with TSC develop LAM. 
LAM is a progressive, destructive lung condition that strikes women in their childbearing years. The disease causes cysts to grow uncontrolled in the lung. These cysts secrete proteins that break down the healthy tissue surrounding them. Many women with LAM are often misdiagnosed with asthma due to shortness of breath and chest tightness. A more detailed discussion of this condition can be found at the LAM Foundation website.
At the time I was diagnosed, there were no effective treatments and no cure. End stage LAM often requires lung transplantation but, based on the consensus among researchers and practitioners, this is not a viable treatment option since the current survival rate for lung transplant is 50% and the life expectancy post-transplant is an average of 5 years.
From Anger to Action
I was infuriated. It had taken me years to come to terms with TSC, now this? Even with a background in health science and journalism, I didn’t understand how exactly LAM was attacking my body. But I decided at that point I had two choices: Give up or fight. I decided to fight. Not only did I have one rare illness to contend with but two. I would have to take charge of my own care and be selective about which medical providers I chose. I felt if I was honest with myself and others by being open and sharing my experiences, I could save others from some pitfalls.
This decision was the wisest move I could have made and just in the nick of time. From late 2003–only a few months after diagnosis–until 2008, I had severe medical problems. When LAM wasn’t attacking my lungs and causing them to collapse, I was having issues with TSC wreaking havoc on my kidneys. I compared my struggle to a continual boxing match. I got punched a lot but never knocked out.
During this period I had five lung collapses, which resulted in two surgeries to prevent future collapses. I also had three procedures to ensure that my kidney tumors would not grow so large they would burst and lead to internal bleeding, and to protect me from losing one or both kidneys. I also had a few other miscellaneous surgical procedures performed. I felt like a guinea pig and had some very harrowing moments, often wondering if I would live to see 35 and struggling to maintain my career and life outside my illnesses. My spirit was young and strong, but my body functioned like a person much older. Adjusting to that was an entirely different battle.
I became an active volunteer in the Tuberous Sclerosis Alliance in 2003. This is a nonprofit organization founded by four mothers of TSC patients to support other families and adults with TSC. A friend recruited me to serve on a committee that supports and assists adults with TSC to advocate for themselves and each another. Among other activities, we developed a diary to help adults with TSC track medical appointments and house their important health information. This can be a difficult challenge since it involves coordinating care with many different specialists as well as tracking vital signs and other data.
While I was in the throes of this I continued to advocate for myself and others. I helped plan adult sessions for conferences, town hall meetings, and other projects to help adults with TSC to remain engaged. I also went to Capitol Hill to meet with Members of Congress from various states to lobby for more funding for our research.
The Rewards of Self-Advocacy
I have almost died twice, and I firmly believe the only reason I’m here is because I was active in learning about my illness and selective about my health care providers. I am fortunate that my LAM diagnosis–for better or worse–came before complications developed. Other women with the sporadic, non-TSC form of LAM often struggle for years with misdiagnosis before finding answers and appropriate care. I also have very supportive friends, family, and work colleagues, who have been vital in helping me maintain a positive attitude.
I am fortunate to work for Medscape, a website that provides information to physicians and other health care providers, and which I use to understand the latest developments in research and trends in medical care. The use of the web by patients for online research and education is critical for active engagement by patients.
I used to take my doctors’ recommendations “as-is,” without question, figuring they knew much more than I ever would. Now I take a more active approach with the goal of building a partnership. I seek out doctors who will tell me that they are willing to keep up with the research on my illnesses, listen and respond to my questions, and explain in detail the reasons for their recommendations for medications, surgeries, or therapies. If a doctor will not allow me to be an active participant in my own care, I immediately seek a second opinion.
In the past few years this has paid off. Last year I began a new drug therapy, sirolimus (or Rapamune). The mass proliferation of benign tumors in TSC is effectively slowed by this drug. In LAM patients, it sometimes decreases the size of existing cysts as well as keeping new ones from developing. Currently, though, this drug is only effective in 50% of the population. I was too late for admission to the clinical trial phase, so I take it off-label under strict monitoring by my doctor. I carefully weighed all the risks and benefits before beginning this therapy to make sure it was in my best interest. I have responded favorably and remain at a low dose (2 mg daily). While it hasn’t solved all my problems, it has given me an opportunity to live life on my terms. I don’t feel this would have been possible without my diligence and stubbornness to get the medical care I felt was in my best interest.
Self-determination, stubbornness, fortitude, and any other traits a person has within them can prove their most powerful allies in situations like this if they use and apply them to their health care decisions. I rest better at night knowing I made the best decisions based on all available information at the time–even if they were educated guesses.
I’m not in an occupation where advocacy comes naturally or one for which I received any formal advocacy education. It was a skill I had to learn on my own, but now it is the most important weapon in my arsenal. Anyone can possess it if they take the time to invest in themselves and make the conscious choice to take back the control their illness tries to wrestle away.
-  Moss, Avila, Barnes, et al. Prevalence and clinical characteristics of lymphangioleiomyomatosis (LAM) in patients with tuberous sclerosis complex. Am J Respir Crit Care Med. 2001 Aug 15;164(4):669-71. ↩
-  Avila NA, Dwyer AJ, Rabel A, Moss J. Sporadic lymphangioleiomyomatosis and tuberous sclerosis complex with lymphangioleiomyomatosis: comparison of CT features. Radiology. 2007 Jan;242(1):277-85. Epub 2006 Nov 14. ↩
-  What is LAM? The LAM Foundation. Available at: http://www.thelamfoundation.org/about-lam/what-is-lam.html. Accessed October 25, 2010. ↩
-  Adult Journal. Tuberous Sclerosis Alliance. Available at: http://tsalliance.org/documents/ADULTJOURNAL.pdf. Accessed October 25, 2010. ↩
- Tuberous Sclerosis Alliance. Available at: http://tsalliance.org/. Updated 2010. Accessed October 21, 2010.
- The LAM Foundation. Available at: http://www.thelamfoundation.org/. Updated 2007. Accessed October 21, 2010.
- Symptoms of LAM. The LAM Foundation. Available at: http://thelamfoundation.org/about-lam/symptoms-of-lam.html. Accessed October 25, 2010.
- The LAM Treatment Alliance. Available at: http://lamtreatmentalliance.org/. Accessed October 21, 2010.
Copyright: © 2011 Nicole M. Seefeldt. Published here under license by The Journal of Participatory Medicine. Copyright for this article is retained by the author(s), with first publication rights granted to the Journal of Participatory Medicine. All journal content, except where otherwise noted, is licensed under a Creative Commons Attribution 3.0 License. By virtue of their appearance in this open-access journal, articles are free to use, with proper attribution, in educational and other non-commercial settings.
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