For 2013 I have decided to support LAMAction – a small charity supporting LAM sufferers (see below) and the valuable research needed of a rare disease in women. (approx 1,000 in the UK). I have chosen LAMAction as a very good friend, Alex McDonald, has the disease. Alex has been a massive support to me through some difficult times and we have worked together in different ways nearly all the time I’ve been with DVLA. Alex also supported much of my 2011 fundraising activities and spent three days with Ali, Chris and myself in our West to East cycle in 2012. This is my opportunity to show Alex how much I appreciate what she has done and to support her and those affected by one of the rarest diseases out there.
I asked Alex to share some of her story as to the background LAM. Alex never lets it affect her perception on life and is a true example of how life does go on – it’s about positive mental attitude. Over to Alex.
Alex supporting Chris and I on LEJOG in 2011
Hi, my name is Alex McDonald (female - a significant fact) and I'm a Lammie! This is my story on how I became involved with LAMAction.
In 2008 I started to feel short of breath on occasions, nothing notable, no more than that with a bad chest cold. Then just before Christmas I became severely breathless, this time I began to cough blood as well. Soon the amount of blood was of concern, therefore I ended up in A&E, I had Influenza A and probably pneumonia. I was sent home with antibiotics and told to see my GP as soon as possible. Apart from the breathlessness I had no flu symptoms so this was a bit of a puzzle to me. Anyhow I recovered within a week (a bit odd for someone with pneumonia!)
The following March and May the same happened again, so my GP arranged for a CT scan, and to cut a long story short, it revealed some odd lung 'architecture'?? After more scans and a biopsy I was told I may have a disease called Lymphangioleomyomotosis (LAM). I was informed that it was very rare, affected only one in a million women and little was known about the disease. It was degenerative and there was no known treatment or cure. Although lung function tests suggested only mild deterioration, the disease would gradually reduce my lung function. I was sent away with just a few fact sheets from the internet and an appointment in 6 months to assess my lung function. I was informed there was a specialist consultant in Nottingham, but it was not necessary to refer me to him at that time. To be honest I didn't really take any of it in until later when I read the printouts which basically stated a definite prognosis was difficult as so few cases were known, but the average life expectancy was 2-8 years, with a lung transplant it may extend this by another 5 years. You can imagine the shock!
Thanking Alex for her support during the 2011 Charity Ball
Without any real information or understanding by local medics of my condition it was difficult to know what I could do or how to deal with it. Luckily for me I had a friend who had access to medical research and she looked up the LAM consultant and found out about a support group called LAMAction. Through them I was given reassurance and all the relevant information I needed, introduced to other patients and was put in contact with Professor Johnson who agreed for me to be referred to him as the UK specialist.
So what is LAM and who are LAMAction? LAM is a multi system disease usually diagnosed in women of childbearing age. It mainly affects the lungs where it causes excessive growth of muscle cells destroying lung tissue. There is no known effective treatment or cure and for many patients lung transplantation is the only means of survival. LAMAction not only provided me with vital up to date information on LAM, but introduced me to a network of fellow Lammies. Without their crucial support and expert advice I don’t know how I would have managed, particularly as LAM has many varying complications and develops differently in each person. Being such a rare disease there is little funding for research, therefore LAMAction activities help fund a part time research student as well as helping patients and their families. LAMAction also provides education for healthcare professionals, is involved in supporting drug trials and has links with medical professionals and organisations around the world.
I have been fortunate in that my lung function is reasonably well preserved at present. It does restrict my ability to do physical activities, and as my oxygen uptake is reduced I do become tired and struggle to catch my breath at times when talking! (Something Alex has a passion for – Lucas!) There is also a high risk of lung collapse, infection and respiratory failure. Like 50% of patients I also have a renal tumour (angiomyolipoma) which can bleed and cause other problems. It is known that pregnancy accelerates the disease and sadly for many women having children can be life threatening, a few patients still have moderately preserved lung function for 15 years or so, for others it means a life dependant on oxygen and waiting for the chance of a lung transplant. It is possible more women have LAM, but that the disease is often misdiagnosed as bronchitis or emphysema.
The work done by LAMAction has led to the setting up of the UK LAM Centre where all LAM patients can be referred to, and is vital in advancing research. This has recently resulted in the breakthrough of an identified inhibitor, M-Tor which may link to other diseases such as cancer. LAMAction is the only means of funding research into LAM, and is an essential means of giving support and advice to patients and professionals. Your support would aid there continued success and hopefully bring about an effective treatment or cure and save lives. Thank you.
For more information and to see Newsletters and more, have a look at the LAMAction site - http://lamaction.org/
The target is £2,000 for 2013, but LAMAction need to raise £70,000 to support employment of a scientist in the UK to undertake the laboratory research. To support Lucas in his fundraising this year go to www.virginmoneygiving.com/lucaskeepsrunning
Alex on tea making duty during her two days supporting the West to East cycle in 2012