“At last, an explanation!!”
I was diagnosed in October 2010 at the age of 46, with both tuberous sclerosis and lymphangioleiomyomatosis. I live on the gorgeous Gold Coast and work for the Gold Coast City Council in their records department. Not having had any children and never marrying, I keep myself busy with my six pet parrots, which are a passion of mine, along with travel and gardening, reading and other interests.
About five years ago, I was finding it increasingly difficult to exercise or to even walk up slight inclines without becoming breathless. I was also having mild panic attacks when carrying moderately heavy shopping bags to the car.
In 2010 my GP referred me to a respiratory specialist and I had a lung function test. The results of this and a heart stress test led the specialist to a diagnosis of emphysema, even though I had never smoked. Upon hearing this diagnosis, I was very resentful of my late mother. I had looked after her for a year before she died in 2005 and I assumed second hand smoke was the cause of my contracting emphysema (wrongly, as I later learnt). She had smoked around me and my siblings while we were growing up and was diagnosed with emphysema in early 2001. Despite being told this was killing her, she refused to give up smoking till the day she died.
My GP sent me for a total blood test. My Alpha-1-Antitrypsin levels were normal, as was Phenotype M, which I understand is not normally the case for those with emphysema. I was sent back to the respiratory specialist, who ordered a CT scan of the thorax. It came back showing my lungs had multiple cysts throughout and I had multicystic kidneys. I was advised I had LAM.
While I stood there looking at the scans and all the black dots on my lungs, I knew this wasn’t good. I had to sit down. Feeling the blood drain from my face, I asked, “How long do I have?” thinking he would reply, “Oh, you have years and years”. Instead, he told me I had maybe 10 years or so, depending on how severe the progression of the condition became. He said there was no cure, that I am likely to need supplementary oxygen as the disease progresses, and that a double lung transplant was the only treatment to date. On top of that news, I was advised that there were two other conditions that were associated to LAM, one being tuberous sclerosis (TSC) and the other being meningioma and he wanted me to have a brain MRI and kidney CT scan.
After the consultation, I walked out into the beautiful sunny day and wondered how something so horrible and unbelievable could have occurred on such a perfect day. My world felt like it had spun out of control. For the next couple of days my mind was working overtime. I went slightly overboard, thinking about organising a will and prepaying for a funeral.
I then “got a grip” on myself and thought “have things really changed since before the diagnosis?”, “no”. So I carried on with my life in much the same way as I had done before, applying the wisdom of Winston Churchill “Keep calm and carry on”!
The brain MRI confirmed that I had tuberous sclerosis, but luckily no meningioma. The renal CT confirmed the multiple cysts that had shown up on the previous CT. About two months later, I had my first consultation with a neurologist and was put through the battery of tests for visual, cranial nerves, reflexes etc. Luckily, I was advised that all appeared to be normal. I was told that I was fortunate not to have epilepsy and to be of normal intellect.
The neurologist advised that I had a hypomelanotic lesion on my hip and adenoma subaceum on my chin and nose. I had seen a dermatologist regarding these spots several years earlier. He had diagnosed them as rosacea and given me several sessions of dermabrasion, which had done little.
It was a real “light bulb” moment, when I was told I had TSC and what that all involved. It explained so much about my past. I knew I had been born with the umbilical cord around my neck and that had caused blood vessels on one side of my face to burst, causing a large portwine birthmark. When I was about three months old, my parents were awoken by my having a seizure. They rushed me to hospital. I don’t know what happened after that, whether a diagnosis was given or not. Both my parents are now long deceased and I regret not enquiring further into my health records. My mother told me that she worried when I was slow to walk and talk. As a toddler, I was incredibly shy and found it difficult to make friends or try new things. My shyness was put down to my having the large mark on my face and being self conscious. I had a skin graft at the age of three. When it was time to start school, my parents were advised to hold me back a year as I was not reaching the normal milestones for my age group. However my parents wouldn’t hear of it. I had to try to keep up with other children. I absolutely hated maths classes and vividly remember one teacher yelling at me because I could not answer one of the maths problems. It was humiliating. Other than maths, I enjoyed my subjects and went on to be selected for a clerical cadetship at the High Court, where I was promoted up the ranks and stayed for 15 years before leaving to join the Gold Coast Council. I’ve have been here ever since – over 15 years!
It is fantastic that there are now organisations such as LARA, The LAM Foundation and the Australian Tuberous Sclerosis Society for individuals and families to turn to. Let’s hope the time is near when a cure or effective treatments are discovered.