LAM Treatment Alliance Fast Tracking Treatment Research

My name is Claire Berthet and I was the LAM Treatment Alliance's first employee two years ago when the organization was just founded.

Currently reading History of Art at the University of Oxford, I returned again this summer and it has been quite exciting to see the dramatic progress in research that has occurred in such a short space of time. Much of my work has focused on preparations for the Brighton Summit and I am looking forward to meeting those I have been in contact with and heard so much about over the past few months.

My name is Havi Carel and I live in Bristol, UK, with my husband, Samir, and our dog Laika. I am 37 and work as a philosophy lecturer at the University of the West of England. I was diagnosed 18 months ago and have been on a sharp learning curve since. I am a member of the LAM Action Executive Committee, a member of the LF and very involved with the LAM TREATMENT ALLIANCE (LTA). Being able to work with these organizations, especially the LTA where I play an active role in helping plan and run meetings, has been invaluable to my sense of purpose and still being able to have some control over my life.

My diagnosis was a complete shock. I had no idea I had such a serious disease. I was simply handed a diagnostic manual and told to 'read about what I've got'. My first question was: so what do I do? When I then found out that there wasn't a treatment for LAM I was stunned. It had not occurred to me that something could happen to me at such a young age and modern medicine would be able to offer so little. I was prepared to do anything: take drugs, have an operation, follow a strict regime, have chemotherapy. But there was nothing to do but observation and treatment of symptoms. My sense of helplessness was overwhelming.

The first few months after my diagnosis were difficult to describe and even more difficult to live. Things then got better as I learned to accept what has happened to me and to co-exist, more or less peacefully, with my illness. My main goal is to assist LAM organizations and researchers in the search for treatment. I continue to work full time and my research has now turned to philosophy of medicine, but I devote some time each evening to my LAM work, a top priority for me. I think that patients often underestimate their importance in pushing research of rare diseases like LAM and that our fate is, to some extent, in our hands.

• Parent of TS daughter -- Sally-Anne [31]
• Member TSA since 1977
• Established research fund raising 1978 -- major involvement with fund raising, public awareness and external communications
• Volunteer Appeals and Publicity Officer TSA 1978 -- 1992
• Head of Appeals and Publicity 1992 -- date [TSA Staff]
• Joint Organiser International TS Research Symposia 1982, 1985, 1988 & 1991
• Wide experience with all media -- radio, TV & press
• Responsible for raising all inward funding to TSA [having raised approaching GBP10M]
• TSI -- close involvement since inauguration in 1986
• TSE -- instrumental in establishing the Pan European body in 1992

Personal details:

• Member Chartered Institute of Linguists
• International Marketing Co-ordinator -- major pharmaceutical company 1968 -- 1977

• Parent of TS daughter -- Sally-Anne [31]
• Member TSA since 1977
• Board Member TSA 1978 - date
• Chairman TSA Board of Trustees 1987 -- 1992
• President TSA Board of Directors 1992 - date
• Organiser International TS Research Symposia 1982, 1985, 1988 & 1991
• TSI -- considerable involvement since inauguration in 1986
• TSE -- Chaired since inauguration in 1992
• Established research funding -- major involvement with fund raising, public awareness and external communications
• Continuous involvement with TSA's management
• Member of Finance Committee

Personal details:

• Operations Director of UK specialist textile manufacturing company serving worldwide markets
• Member of Chartered Management Institute

My name is Corine Durand, I am 42. I have a daughter aged 13. I live in Poitiers (France). I used to be a management secretary but I had to stop working in 1998 because of LAM. My first LAM symptoms appeared in 1995. I had a pneumothorax when I was in the 7th month of my pregnancy. Two months later I had a chylothorax. LAM was diagnosed at that time after a biopsy. During the 10 next years my breathing capacity decreased steadily so that I had to be on oxygen for a few months before I had a single lung transplant in December 2004. Everything has been all right so far and I can really enjoy life again.

Of course, having LAM completely changed my life. I liked my job very much but I had to suddenly to stop working. I had never thought of becoming a housewife and the first times were quite difficult and depressing. Moreover, having a very young child and not knowing how the very near future is going to be made me really anxious.

In 2001 another LAM patient, Michelle Gonsalves, contacted me and informed me about her intention to create a LAM patient group in France. After several meetings, I decided to involve myself in this organization and I became more and more active over the years.

Even if I naturally feel really concerned about working with this patient group in France, my greatest wish is of course that our work, together with other organizations all over the world, can lead to an effective treatment for LAM.

Ian Eslick is a PhD candidate at the Media Laboratory of the Massachusetts Institute of Technology. His current research areas encompass Human-Computer Interfaces, Artificial and Collective Intelligence, Visualization and Software Engineering. Ian is developing technology platforms to enable user communities to collaborate in the acquisition and analysis of complex datasets without requiring significant expertise with computers.

Prior to his doctorate program at MIT, Ian was the founding President of Silicon Spice, a telecommunications semiconductor startup incorporated in 1996. His company was acquired by Broadcom Corporation in 2000 where he continued as a Director of Software Engineering. Under the Broadcom label, the company's products became the market leader in carrier-class voice telephony with significant penetration in the US, Europe and Asia.

Ian is also an advisor to venture capital and startup companies in the semiconductor, software, and non-profit sectors. He holds over a dozen patents in semiconductor architecture, real-time software, and systems technology.

I was diagnosed with LAM in 1989 following 10 months of "asthma," which was in fact a gradually worsening pleural effusion. I was drained twice that year, then started progesterone injections and thankfully the chyle has never returned. My breathing has declined gradually over the years so I've had to slow down quite a bit. In early 2003 I started to use oxygen at night and when walking or cycling, but I was still able to lead a normal life. Then in 2006 my immune system, which had served me very well during 17 years of LAM, seemed to give up and I started developing one chest infection after another. This has led to significantly increased oxygen use and the need to slow down even more. I have been assessed for transplant but am not eligible due to high levels of antibodies in my blood.

My weekdays are filled by work, both paid and voluntary, and during weekends I enjoy relaxing with Terry and Helen. I also remember and grieve for our son Thomas, who died in March 2004, aged 18. For 20 years Thomas, who was born with severe disabilities, was THE big issue in my life---LAM was always a secondary concern. That balance is slowly starting to change as I become more and more disabled myself. Like it or not, I'm forced to take account of LAM on a daily basis. I try to emulate Thomas's cheerfulness and sense of humour, but it isn't always easy. Being involved with LAM Action, the LAM Foundation and (in a small way) with FLAM is a great help, as it's good to be doing something to raise awareness and combat this cruel disease. I look forward to working with LAM Treatment Alliance as well.

Amy Farber, PhD, is the founder and Chief Executive Officer of the LAM Treatment Alliance. She was diagnosed with LAM in April of 2005. Dr. Farber founded the LAM Treatment Alliance (LTA) with the goal of fast tracking bench to bedside research to find a treatment for LAM in time for women now living with the disease. Dr. Farber is trained as a social scientist focused on the study of law, medicine and society and received her BA from UC Berkeley and PhD from Harvard University. She has completed a Fellowship in Medical Ethics at Harvard Medical School, is a member of the Harvard Medical School faculty and the Institutional Review Board of Brigham and Women's and Massachusetts General Hospitals in Boston. Dr. Farber lives in Cambridge, MA with her husband, Michael Nurok, and daughter, Charlotte.

Bronwyn Gray's daughter Lisa, a 29 year old lawyer was diagnosed with LAM in 1997; Bronwyn left her teaching job and established the NZ LAM Charitable Trust in 1998, after a worldwide desperate search for information and clinical support. Ten years on Lisa still works as a Family Law Barrister, her lung function continues to steadily decline however she is incredibly hopeful and supportive of the work of the LAM Treatment Alliance and the LAM Foundation of America.

The Prime Minister of New Zealand, the Rt Hon Helen Clark has been Patron of the New Zealand LAM Trust since its inception; the organisation has a board of trustees and a medical and scientific advisory board. The Trust has raised and funded approximately $400,000 for basic research and has hosted 2 international LAM science symposia which were held in Auckland in 2002 and 2004. Bronwyn also convened the first International LAM science symposium held in Sydney, Australia in 2006.

Bronwyn is the New Zealand representative on the US LAM Foundation's Worldwide LAM Patient Coalition and is involved in ongoing patient support and awareness raising in New Zealand and Australia; she is the vice president of LARA ---the LAM Australasia Research Alliance, which has raised funds and set up a LAM Science investigation and collaboration between the Universities of Auckland, Sydney and Pennsylvania; a six-month pilot project currently in progress at the laboratory of Dr Vera Krymskaya in Philadelphia.

Caroline Heckman received her undergraduate degree from the University of Chicago before moving on to the University of Texas MD Anderson Cancer Center where she earned her PhD in 1996. From there she went on to Stanford University as a postdoctoral fellow and later as a staff scientist working in the laboratory of Prof. Linda Boxer to elucidate the molecular mechanisms involved in the development of B cell lymphomas and identifying new targets for therapy. Subsequently she joined the University of Helsinki as a senior researcher with Prof. Kari Alitalo where she has focused on identifying novel mediators of lymphatic metastasis and evaluating current therapeutic options for metastatic disease. Recent research efforts have focused on lymphangioleiomyomatosis and its association with the lymphatic system. Using LAM patient samples she is currently exploring new possibilities for LAM treatment.

Elizabeth (Lisa) Petri Henske, MD recently joined the faculty at the Brigham and Women's Hospital and Harvard Medical School, after spending 12 years at Fox Chase Cancer Center in Philadelphia, where she was a Senior Member. Her research focuses on lymphangioleiomyomatosis (LAM) and tuberous sclerosis complex (TSC), a tumor suppressor gene disorder that leads to benign tumors in multiple organs, including the brain, heart, and kidney, as well as seizures, mental retardation, and autism. Her laboratory uses a broad range of approaches to study TSC, including genetic analyses of human tumor specimens, cell-based and biochemical assays, and mouse, Drosophila, and yeast models.

Dr. Henske graduated summa cum laude from Yale University, attended Harvard Medical School, and was trained in Internal Medicine and Hematology-Oncology at the Massachusetts General Hospital, followed by postdoctoral training at the Brigham and Women's Hospital.

She has received the Scientific Advancement Award from The LAM Foundation (2000), the Manuel Gomez Award from the Tuberous Sclerosis Alliance for "extraordinary scientific and humanitarian efforts to find a cure for Tuberous Sclerosis" (2005), and the Medtronic Prize from the Society for Women's Health Research (2007) for "an outstanding scientist whose work has led or will lead directly to the improvement of women's health."

Dr. Henske is a member of the American Society for Clinical Investigation. She is Chairperson of an NIH study section (Cellular and Molecular Biology of the Kidney) and also Chairs the DOD Neurofibromatosis Research Program Integration Panel. She is an elected member of the Tuberous Sclerosis Alliance (TSA) Board of Directors, and Chair of the TSA Professional Advisory Board.

Jeff Lindenmayer is the Principal of a busy General Practice in outer suburban Melbourne, Australia. He thrives on the diversity and continuity of patient care in general practice, particularly in obstetrics and paediatrics. With his team of midwives, Jeff provides antenatal care and assists with delivery of 350 women per year. His interest in procedural medicine includes removal of skin cancers and performing vasectomies. He also regularly attends elderly patients in Nursing Homes and at home.

Jeff has an obvious personal interest in LAM as his partner Heather was diagnosed in 1995. He is a member of the Medical and Scientific Advisory Board of LAM Australasia Research Alliance (LARA). Jeff believes that understanding the pathogenesis of LAM will expedite its treatment and have implications for many other diseases. In collaboration with Prof David Sonnabend of Sydney he recently began assaying VEGF-d levels in women with and without LAM in the hope this will lead to early identification and tracking the progress of women with LAM.

Sebastiano and myself are around 30 years old, we met while we were both living in New York, and are now living together in London, both working in finance.

Until few months ago, our main concerns were our careers and raising house prices in London.

Then, in April 2007, after a pneumothorax and a CT scan, I was diagnosed with LAM.

The situation is relatively ok at the moment, but I likely have had LAM already back in 2000 when an angyomiolipoma was removed from my right kidney.

Since April my life has changed; completely and forever. Practically, limitations are few so far: another pneumothorax, a pleurodesis, uncertainties about any future flights, etc. But emotionally things cannot be the same. I have got involved with LAM Action; and this means that I try to fight an internal struggle by getting involved into something that makes me worry about my future while at the same time representing my only chance of a better future.

I am re-assessing my work/life balance and think about a family. I talk more to my parents. I kiss Sebastiano more often. And at night, when sometimes I feel a bit like crying, I remember that I have all I need, and more.

My name is Anke Müller and I am 37 years old. My husband, Lutz, and I just got married and we live in a small town in the south-west of Germany

I work as a financial analyst in an IT-consulting firm. I like my work and my colleagues but sometimes I wish work would leave me more energy for my LAM activities. I work for the LAM Treatment Alliance, helping with organising meetings, IT work, letter writing and so on. I am also a member of D-LAM, the German LAM self-help group.

I was diagnosed eight years ago and have had a rather slow decline of lung function over the past 12 years. The decline is slow, but it is still a decline and although it is not as terrifying as a fast decline, it rules my life. The list of activities I cannot do anymore is getting longer and longer every year.

The major problem of my disease management are still the pneumothoraces that I have had for 12 years. It is getting more and more difficult to fix my lungs. I cannot really say that I learned to live with this kind of uncertainty in my life. I know it can happen anytime. But when it happens and I need to be hospitalized immediately, I am always stunned.

Regardless of what is rational or not, I do what I still can. This year I started to play the recorder and to sing in a choir. Friends asked me whether it wouldn't be more sensible to play a non-wind instrument. But I try to make as little "sensible" decisions as possible within my operating range. What I really want to do comes first!

My personal health problems and the stories of friends who have LAM motivate my commitment to the LAM Treatment Alliance. I believe in Amy and Havi and all the others who work to fast-track a research program that a treatment will be found in time for all of us.

My name is Nuria and I suffer Tuberous Sclerosis since I was a child. 5 years ago I started to feel tired and disnea and just recently I was diagnosed LAM. In October 07, I suffered Chylotorax, but now I feel almost recovered and fight with the help of my husband and family against my illness. I am member of AELAM since September 07, where I feel the support of other LAM affected women who share with me their experiences. That is of great help. I studied Economics and work as CFO for an Italian company. I love to talk about wine (and drink it, also) with my husband, Gonzalo.

Now we are facing together the challenge to make LAM known in order to get a solution for women affected by LAM and we will not stop until we get it. Onwards!!!

My name is Berit Öberg and I'm from Stockholm, Sweden. I have no personal experience of LAM myself, but I have a daughter, Lisa 24 years old, with Tuberous Sclerosis Complex (TSC). Many women with TSC develop LAM (and AML on the kidneys). I founded the Swedish TSC-association about 20 years ago. Being the Swedish TSC-association's international representative, being Lisa's mother and being a friend to some women with TSC and LAM - certainly I'm interested in the involvement with LAM organizations.

I am Maria Luz Vila Otero, president of AELAM, LAM Spanish Association. I studied Business Management and Administration for three years. I am married and I have two children.

I was diagnosed in 2005 after losing my left kidney, because of an angiomyolipoma in 1990, and several pneumothoraxes. I can say that I am lucky, since my pulmonary function is almost normal. But since I know that I have LAM I feel that there is an early date of expiry fixed for me and due to that it's hard for me to make future plans.

Our organization was founded in 2002 by Asuncion Valdivielso, also affected who after being transplanted both lungs in 2005 decided to enjoy her family and to leave her position in the association.

AELAM gives information and support to those women affected with LAM in Spain and Latin America. We hold an annual meeting in Madrid where a team of pneumologists, led by Dr. Alvaro Casanova, who explains to us the latest news about the disease and to resolve our doubts.

We still have much to do, as joining all Spanish LAM affected together, so that we can have a better understanding of the disease. This would make the study of the cases easier and the different ways in which it develops. Also, so the beginning of future clinical trials in our country would be more feasible.

My name is Heather Telford from Australia. I am 54 years old. I was diagnosed with LAM in 1995 at the age of 41. Although I now use oxygen for exercise my health has been reasonably stable over the past 13 years.

I live with my partner Jeff Lindenmayer. Jeff is a General Practitioner and runs a busy medical practice in a semi-rural area outside Melbourne.

My personal interests are in art, film, theatre and gardening. I love nature and animals. Many times a week Ossa, my pet dog and I walk amidst the world's tallest flowering trees in our nearby eucalypt forest. The forest is home to many of Australia's icons, including kangaroos, kookaburras, wombats, lyrebirds, rosellas and cockatoos. When Jeff is not working, he carries my O₂. Otherwise my friend Simon does.

In 2006 a small group of women with LAM formed the LAM Australasia Research Alliance (LARA). LARA represents women with LAM from Australia and New Zealand. I am the President of LARA. Our Vice President is Bronwyn Gray who is also the Director of New Zealand LAM Trust.

LARA's main focus is to increase awareness of LAM within our region. Our goal is to engage women with LAM in other countries to form a regional network. We hope to improve organ donation rates and encourage the National Disease Research Interchange (NDRI) to co-ordinate a tissue collection and distribution system encompassing our neighbouring countries.

In 2007, LARA and New Zealand LAM Trust co-funded a $50,000 scholarship for Dr Lyn Moir from University of Sydney to work on LAM cell lines under Prof Vera Krymskaya at University of Philadelphia in Pennsylvania.

Jeff Thomas is the Director of Donor Services at NDRI (the National Disease Research Interchange) in Philadelphia, USA. He has over 20 years experience in the field of tissue donation as he previously served as the Director of Tissue and Organ Preservation Services at Gift of Life Donor Program in Philadelphia (one of the largest US organ procurement programs), as well as the Executive Director of Doheny Eye & Transplant Tissue Bank in Los Angeles. He holds certification from the American Association of Tissue Banks and received his science degree for Neumann College. He joined NDRI in 2005. His department oversees the 125 centers in NDRI's Tissue Acquisition Network and the NDRI Private Donor Program which consents individuals interested in being a registered tissue donor for research purposes.

In June 2003 I was diagnosed with LAM. The first clear symptoms occurred during my first pregnancy in 1978 when I was short of breath and coughed much more than was acceptable. The doctors said that this was to be expected during pregnancy. The doctors later diagnosed this as being asthma. Identical breathing problems showed also during the two later pregnancies in 1979 and 1984.

In 2004 I underwent a single lung transplant (left lung). The lung transplant gave me a new life albeit a different life but rich and rewarding. I was given the opportunity to follow my childrens' routes to adult lifes as opera singer, banker and meteorologist which would not have been the case without the lung transplant.

Cooperation between Sahlgrenska Universitetssjukhuset in Göteborg, Karolinska Universitetssjukhuset in Stockholm and me has been very good since the lung transplant -- a prerequisite for living a good life with LAM.

I have founded the network LAM Academy together with Maryam Fathi, MD, PhD, at Karolinska Sjukhuset.

Vicky Holets Whittemore, Ph.D., is Vice President and Chief Scientific Officer at the Tuberous Sclerosis Alliance in Silver Spring, MD. Her nephew was diagnosed with Tuberous Sclerosis Complex (TSC) in 1985. Vicky and her son were diagnosed with TSC in 1990. Vicky received a B.S. in Zoology from Iowa State University in 1977 and a Ph.D. in Anatomy from the University of Minnesota in 1982. She did postdoctoral fellowships at the University of California, Irvine and the Karolinska Institute in Stockholm, and was on the faculty of University of Miami School of Medicine from 1986-1993. She served on the Board of Directors of the TS Alliance from 1987-1993, and joined the staff of the Tuberous Sclerosis Alliance in 1994 where she has worked to build the interest and support of TSC research. She is the co-editor of the third edition of Tuberous Sclerosis Complex, and is currently co-editing the fourth edition with two of her colleagues. She has authored more than 30 scientific publications. She serves on the Review Committee for the Collaboration, Education, Translational Testing (CETT) Program for the Office of Rare Diseases at the National Institutes of Health, and serves as the Vice-Chair of the Board of Directors of the National Coalition for Health Care Professional Education in Genetics (NCHPEG), and as a member of the National Advisory Council of the National Institute of Neurological Disorders and Stroke, National Institute of Health.