I was diagnosed in October 2010 at the age of 46, with both Tuberous Sclerosis Complex and a rare lung disease, lymphangioleiomyomatosis (LAM for short). 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 a few other interests.
About five years ago, I was finding it increasingly harder to exercise or 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, where I undertook a lung function test. The results from this and a heart stress test led the specialist to a diagnosis of emphysema, even though I had never smoked before. Upon hearing this diagnosis I was very resentful of my mother, actually very angry to say the least. I had looked after her the 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; even being told this was killing her, she refused to give up smoking until the day she died.
My GP then sent me for a total blood test and my Alpha-1-Antitrypsin levels were normal as well as Phenotype M, which I understand is not normally the case for those with emphysema and have never smoked. From there I was sent back to the respiratory specialist, had a CT scan of the thorax. It came back showing my lungs had multiple cysts throughout and I also had multicystic kidneys. I was advised that 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 and had to sit down. Feeling the blood drain from my face, I asked “How long do I have?” thinking he would say “Oh, you have years and years”. He said maybe 10 years or so, depending on how severe the progression of the condition becomes, and that there was no cure. I will likely need oxygen as the disease progresses and a double lung transplant was the only treatment to date. From there, I was advised that there were two other conditions that were associated with LAM, one being Tuberous Sclerosis, and the other being meningioma. The doctor 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 could something so horrible and unbelievable have just occurred on such a perfect day. My world felt like it had spun out of control and my mind was working overtime for the next couple of days, going slightly overboard, thinking about organising a will, 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 much the same as I had done before and used the wisdom of Winston Churchill: “Keep calm and carry on”! The brain MRI confirmed that I had Tuberous Sclerosis but luckily no meningioma. The CT of my kidneys showed multiple cysts also. About two months later, I had my first consultation with my neurologist and I was put through the battery of tests for visual, cranial nerves, reflexes, etc, Luckily, I was advised that they appeared normal and that I was fortunate not to have epilepsy and to be of normal intellect. He advised that I had a hypomelatonic lesion on my hip and “adenoma subaceum” on my chin and nose. I had seen a dermatologist regarding these spots several years ago and he diagnosed them as being rosacea, and gave me several sessions of dermabrasion, which did little.
It just explained so much about my past that I didn’t understand.
It was a real “light bulb” moment, when I was told I had TSC and what that all involved. It just explained so much about my past that I didn’t understand. I was born with the umbilical cord around my neck and this in turn caused blood vessels on one side of my face to burst and cause a large portwine birthmark. At around 3 months old my parents were awoken to me having a seizure and they rushed me to hospital. I am not sure what happened after that, whether a diagnosis was given or not and since both parents are now long deceased, I regret not enquiring further into my health records.
My mother always told me that she worried because I was slow in both walking and talking 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 scar on my face and being self-conscious (I had a skin graft operation at the age of 3). At primary school, my parents were advised to “hold me back” a year as I was not reaching the normal milestones for my age group, but my parents wouldn’t hear of it, so, I had to try and keep up with other children. I absolutely HATED mathematics classes and vividly remember one teacher yelling at me because I could not answer one of the maths problems; it was humiliating and I hated that teacher for the rest of my time at that school. Other than maths, I enjoyed other subjects and went on to get a clerical cadetship at the High Court, where I was promoted up the ranks and stayed there for 15 years before leaving to join the Gold Coast Council and have been here since then.
It is fantastic that there are now organisations such as the Australian Tuberous Sclerosis Society for individuals and families to turn to. Also, The LAM Foundation and LARA, for those women with LAM, are other support organisations. Let’s hope the future is near where a cure or efficient treatment is discovered.