Living with lymphangioleiomyomatosisBMJ 2010; 340 doi: https://doi.org/10.1136/bmj.c848 (Published 12 March 2010) Cite this as: BMJ 2010;340:c848
- Havi Carel, senior lecturer in philosophy1,
- Simon Johnson, reader in respiratory medicine2,
- Liz Gamble, consultant in respiratory and acute medicine 3
- 1Faculty of Social Science and Humanities, University of the West of England, Bristol
- 2Division of Therapeutics and Molecular Medicine, University of Nottingham, Queens Medical Centre, Nottingham
- 3Department of Respiratory Medicine, Bristol Royal Infirmary, Bristol
- Correspondence to: H Carel
- Accepted 5 January 2010
I need to walk my dog. She is delighted to be heading out. She is a runner. I, on the other hand, have a cystic lung disease that has damaged my lungs. Running is out of the question. At best, I can walk at a measured, matronly pace. I can only dream about running.
It has been four years since my diagnosis with lymphangioleiomyomatosis (LAM), a rare lung disease that affects mostly women, during which I have experienced a dramatic decline in my lung function, followed by a transplant assessment. The transplant team said I was too well to go on the list but have kept an eye on me since. I then asked—begged—to be put on an experimental drug, sirolimus, which stabilised my condition. I went from being a healthy, fit, 35 year old woman with a wonderful husband and a great job as a philosophy lecturer, to being ill and scared. My diagnosis felt like everything was being taken away from me—suddenly, unfairly, and with no prospect of compensation.
For quite a while I had been feeling breathless. I could feel my lung capacity falling. Eventually, I went to my GP. She shrieked in horror when she saw my spirometry results. “I’ve never seen anything like this. I have no idea what this could be.” I was alarmed and asked my father, a director of a medical screening centre, to arrange a computed tomography (CT) scan for me. I had the scan in the morning, and returned to collect the results in the afternoon.
The radiologist clearly did not want to break the bad news to me in person. He said, “Sit down. I’ll let you read about what you’ve got,” and handed me a heavy diagnostic manual. It was open at a page headed “lymphangioleiomyomatosis.” I read the description of this strange disease, my illness, and got to the bottom of the page: “Prognosis: ten years from onset of respiratory symptoms.” I could not speak or move. My only thought was: 45—I will be dead by the time I am 45.
The first month was terrible. I tried to reach out to my friends, but many of them mumbled that they didn’t know what to say and disappeared. A new awkwardness entered my life. The awkwardness of nurses doing my breathing tests showing a sharp decline; the awkwardness of my parents, paralysed by their inability to help; the awkwardness of the healthy, to whom illness is a foreign and exotic land.
In the months that followed I learnt that illness is multifaceted and complex; that it is a process, not a static entity; and that it is possible to go on living well and experiencing wellbeing even within the context of a terrible and incurable illness. This surprised me, as I had always thought of health as the sine qua non of happiness. And yet, all of a sudden, I found myself changing, responding to constraints, learning to make sense of my life in the light of my illness. The work of realigning my life, its values, and the meaning I gave its different elements surprised me.
At first, I still tried to move around briskly, run for the bus, cycle up a hill. After nearly fainting a few times, I realised that I had to slow down. But there was a more subtle change instigated by my body. Whenever I tried to do something that was no longer possible, like chew gum while walking, or lift and swing my nephew, my body quietly registered the failure and removed the action from its repertoire. This change happened slowly, subtly, but cumulatively. The result was quite amazing: I stopped sensing, and therefore no longer think much about, what I cannot do.
I started seeing that the lived experience of illness was very different from its textbook descriptions or third person view of it. I realised that the first person experience of illness was varied, changed continuously, and shifted from being in the foreground, as during my diagnosis, to being in the background. When it is in the background I think I am no less happy, but a lot wiser than I was before I was ill.
This first person perspective became important to me. I felt that during my frequent dealings with medical and healthcare professionals it was neglected. No one asked me what had changed in my life or what had I had to give up because of my illness. Overlooking the lived experience of illness is a mistake because there is so much important knowledge to be gleaned from it—for example, knowing that the most effective intervention might be helping the patient to retain their everyday life despite their illness. The ultimate aim of medicine is to help those who are ill regain their life, habits, and activities. But it is impossible to do this without knowing about the patient’s usual life and how it has been affected by illness.
Helping researchers help me
As it turned out, the 10 year prognosis is now out of date. My family and I did a lot of research into the illness and made contact with clinicians, researchers, and lymphangioleiomyomatosis organisations to get the best advice. I joined three organisations, which were a source of support and information and gave me the opportunity to assist in the search for a treatment. Joining a mailing list and meeting other women with lymphangioleiomyomatosis was a great help as, with rare diseases in particular, a lot of information is held by patients who have had the condition for many years. But raising funds for research and coordinating tissue retrievals are even more important to me. I am now the European tissue coordinator for the Lymphangioleiomyomatosis Treatment Alliance, a research organisation that collaborates with another United States based organisation, the National Disease Research Interchange (NDRI).
The NDRI keeps a database of patients with a particular disease who have given consent for their tissue to be used in research and of researchers working on that disease. When a patient has a procedure or dies, her tissue is retrieved and shipped to researchers around the world. Since the scarcity of tissue is a big obstacle for lymphangioleiomyomatosis research, making sure that no tissue is wasted is crucial. I explain the importance of tissue donation to patients with the disease and coordinate individual shipments from patient to researcher.
I wanted to incorporate my illness into my work as a philosopher. I began to write and talk about illness, which linked to my work on embodiment. Philosophers spend much of their time thinking about consciousness and its relationship to the body. Through my ill health I realised that illness represents one such relationship, the importance of which has not been recognised by philosophers. I now head a research project funded by the Arts and Humanities Research Council on the concept of illness. I also published a book, Illness, which ties together the philosophical ideas around illness with my experience of it. I hope that by talking about the experience of illness with medical professionals I can make this experience and its dramatic affects on the patient’s life better understood.
Box 1 Background and clinical data
Lymphangioleiomyomatosis is a rare disease that almost exclusively affects women and generally presents before the menopause. It occurs sporadically in only one in 400 000 adult women, but it is found on CT scan in up to 40% of those with tuberous sclerosis complex, an autosomal dominant disease.1 In lymphangioleiomyomatosis an abnormal clone of benign cells (called LAM cells) metastasises and proliferates diffusely in the lungs and axial lymphatics. The cells can also form angiomyolipomas,2 benign tumours of mixed lineage that occur in the kidneys of almost half of all patients with the condition.3 In the lungs, LAM cells form nodular proliferations that cause multiple lung cysts, probably through secretion of proteolytic enzymes. The cysts replace the lung parenchyma and can rupture, leading to pneumothorax.
Respiratory features generally predominate with most patients presenting with either dyspnoea or pneumothorax. Occasionally, bleeding from angiomyolipomas or enlarged abdominal lymphatic masses is the presenting problem.1 The clinical spectrum of the disease is highly variable; some patients develop progressive respiratory failure punctuated by recurrent pneumothorax, whereas others stay stable for many years. On average, 10 years after the first symptom, over half of patients are breathless walking on the flat, a quarter will be using supplemental oxygen, and about one in 10 will have died.4 Diagnosis is made either by lung biopsy or from the combination of lung cysts visible on high resolution comprised tomography and angiomyolipoma or tuberous sclerosis complex.5 Treatment has been mostly aimed at complications including pneumothorax and symptomatic control of dyspnoea, with lung transplantation being an option for patients with advanced disease. Impressive progress in the molecular pathology of lymphangioleiomyomatosis has demonstrated that LAM cells have constitutive activation of the mTOR pathway (a pivotal cellular kinase governing proliferation) resulting from bi-allelic loss of either TSC-1 or (more commonly) TSC-2, the genes that are abnormal in tuberous sclerosis complex.6 This finding has led to trials of mTOR inhibitors in lymphangioleiomyomatosis that have caused regression of angiomyolipomas and possible improvement in lung function.7 8
Box 2 A doctor’s perspective
Havi was referred to my clinic at the age of 35 with exertional breathlessness. She had no wheeze and no trigger factors, and the problem was not episodic. She had never smoked and was fit and active. Her lung function showed airflow obstruction with reversibility after bronchodilators. Her chest radiograph images showed marked hyperinflation. She was given inhaled corticosteroids and β2 agonists. After some discussion about the appearance of the radiograph films a CT scan was arranged, which showed lymphangioleiomyomatosis.
Caring for patients with rare conditions is a challenge. They may take longer to diagnose, and few good quality data may be available to inform management decisions. Sharing care with a national expert in the condition is helpful, allowing both patient and physician to benefit from specialist knowledge.
The psychological effect of diagnosing a life changing condition, particularly in a younger person, should be remembered.
Box 3 Resources for patients and clinicians
The LAM Treatment Alliance (www.lamtreatmentalliance.org)—Founded in 2005 in Boston, Massachusetts, the LAM Treatment Alliance funds collaborative, high-impact research and patient partnerships
The LAM Foundation (www.thelamfoundation.org)—Founded in 1995, the LAM Foundation funds research and offers information, resources, and a worldwide network of support
LAM Action (www.lamaction.org)—A UK charity for women with LAM. It provides patient support, fundraising for research, and information for clinicians and researchers
LAM Australasia Research Alliance (www.lara.org.au)—Aims to improve diagnosis, educate medical practitioners, support patients, and fund research
Cite this as: BMJ 2010;340:c848
This is one of a series of occasional articles by patients about their experiences that offer lessons to doctors. The BMJ welcomes contributions to the series. Please contact Peter Lapsley (firstname.lastname@example.org) for guidance.
Competing interests: None declared.
Provenance and peer review: Not commissioned; not externally peer reviewed.