Rare disease impacts on community

June 3, 2014 by Sabina Baunin
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LARA (LAM Australasia Research Alliance) has held a walkathon at Sydney’s Centennial Parklands involving over fifty people either living with LAM or those whose lives have been impacted by this rare and progressive lung disease being suffered by family members.

Walkathon

Walkathon

Janet Neustein is one of two Jewish women in our community who are currently living with LAM and is president of LARA.

J-Wire understands that LAM is  extremely rare and that approximately eight women in one million are estimated to be diagnosed at some point in their lives.

LAM is a genetic condition which both rare and incurable. It predominantly impacts women in their childbearing years however there have been extremely rare cases where men have been diagnosed. LARA currently has 95 people living with LAM registered in their database in Australasia alone. It is primarily a hormone based disease which occurs when cells from the uterus spread to the lungs, causing cystic tissue to develop and compromise the naturally elastic lung tissue with more fibrous lung tissue causing various symptoms such shortness of breath, coughing up blood or collapsed lungs depending upon the manifestation of the disease. Many people living with LAM require daily oxygen. Those living with LAM require regular medication to slow the progression of the disease. Diagnosis is difficult and misdiagnoses often occur, which is where organisations such as LARA strive to fill the gap.

Dr. Linda Friedland, patron of LARA and also present at the walkathon provided some insight into the current research model around LAM as well as the impacts on the lives of those diagnosed with the disease.

“The problem is people with rare diseases often feel invisible in the health care system, they often are untraceable in the health care system for long periods of time and there needs to a drive towards collaboration with industry and pharmaceuticals. For each individual person living with LAM that is their whole world, it doesn’t matter that its rare, you want to be taken care of, you want to know there’s some sort of medicine, some sort of management, there’s a diagnostic pathway for these diseases, and I think the agenda with LARA is to raise awareness amongst general public, the medical profession, to improve and shorten the diagnostic pathway, so they’re not  going from doctor to doctor not knowing what they’ve got, and working towards treatment and a cure”.

LARA’s role currently raises awareness and enhances collaborative efforts within the medical community by enhancing the development of the diagnostic pathway by raising awareness in the general and medical community as well as pushing for social drive. LAM’s extreme rarity characterises a broad lack of awareness which has been identified as one of the main barriers in our current health system hindering a timely and accurate diagnosis.

LARA’s successes have seen over half a million dollars of funds raised and enhanced research efforts being conducted at the Woolcock Institute in Glebe, Sydney.

President Janet Neustein reflects on her decision to spearhead the initiative to establish LARA.

“I decided that I had lots of skill because I have done writing consultancy and all kinds of strong writing skills and organisational skills and I thought I could put those to good effect in starting a LAM organisation. I saw it as a Tikkun Olam opportunity.  It must be meant to be, I can do something with what I have got to try to improve the prospects of women living with LAM, and we say women living with LAM, because I don’t want it to be sufferers, most of the time people living with LAM aren’t suffers, we’re not patients, we are to a doctor but not when we are living our lives”.

In the past few years, doctors have been prescribing Rapamycin, Sirolimus and Everolimus to treat some cases of LAM.  These drugs assist in slowing the progress of the disease, but are neither stopping it, nor repairing the damage already wrought.  Further research is needed to improve treatment and eventually find a cure. Enhanced awareness of LAM has also been identified as one of the main drivers than can increase funding as well as general community support to allow organisations such as LARA to support those who prefer to be seen as living with, rather than suffering from LAM.

Janet Neustein elaborates on life impacted by LAM:

“It’s living with more uncertainty than most, we all live in a world of uncertainty, but it raises the level of uncertainty, so much is unpredictable, because none of us can tell when it will hit and how it will hit, what lies ahead, of course we know that we’re mortal, but we’ve got a fatal disease, so we’re just a bit more mortal than the rest”.

Organisations such as LARA play an intrinsic role in raising awareness and bringing about hope for those living with LAM. LAM research has made some significant progress in the last decade however enhanced funding is required to make progress towards an eventual cure.

President Janet Neustein provides a message to those living with LAM.

‘My message is have hope, have hope that your own personal outcomes will be good and the outcomes for everybody living with lam will be good, with the help of research and the help of people who are funding the research from the goodness of their hearts.”

Organisations such as LARA rely on donations to fund progress towards a cure.

To donate to LARA, please see below…

drlindafriedland@gmail.com

+61 422 588 480

Janet Neustein, President

LAM Australasia Research Alliance (LARA)

T  + 61 2 9387 1899 (w) / M  + 61 411 816 444

www.lara.org.au

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