Can you say Lymphangioleiomyomatosis?

Let me break it down for you – Lymp -angio -leio- myo -ma – tosis.  What a mouth full.  Us Lammies and the medical profession call it Lam.  So much easier don’t you think!

What is Lam  or Lymphangioleomyomatosis you ask?  Here is the link to the Australian Lam organisation.

http://lamaustralia.org.au/what-is-lam/

“Lymphangioleiomyomatosis is commonly referred to simply as LAM. It is a rare lung disease affecting women.

Caused by a single cell malfunction, the disease process replaces the lung lining with smooth muscle cells. This change progressively reduces the uptake of oxygen into the bloodstream, causing breathlessness, especially on exertion, and other diverse symptoms. These usually appear when women are in their childbearing years.  Because LAM is so unusual, many doctors are unfamiliar with the disease. It’s not unusual for LAM to be misdiagnosed initially as asthma, bronchitis, emphysema or depression.

There are 2 types of Lam.  Sporadic Lam – is not inherited . Caused by a random gene mutation and affects mostly women.

TS/Lam – is associated with Tuberous Sclerosis and is heredity. It is slower to progress than the sporadic Lam and less  debilitating than sporadic Lam.”

 

When my girls were little I began to experience mild asthma.  My doctor advised me to use an inhaler only when i truly needed it.  I was told I had bronchitis or bronchial/asthma.

Winter would be the worst season for me.  I would go a couple of years and be ok only to get so sick it would go from a chest infection to pneumonia. Still I was told it’s the flu season/winter/bronchitis.

If it wasn’t for a friend I met on a Thyroid Facebook group who was trying to find out what her COPD was, I would still be none the wiser.  She had looked up her symptoms on the internet and it came up with Lam and Tuberous Sclerosis.  She had emailed the Professor at the Alfred Hospital in the respiratory department regarding her symptoms and he advised her it wasn’t Lam.  However, she let me know his details and I thought ok I will email him.  Within a couple of hours he had emailed me back to tell me to get to my GP and ask him for a high frequency CT Scan.  I was still in denial and my thinking was why didn’t one of my doctors mention this to me before, especially when they knew of my TS involvement and my “asthma bronchitis”.

So off I trudge to see my doctor who organized  the  test however he was pretty sure I didn’t have it.  He was also of the same mind as me  that surely in the past a doctor  or specialist would have diagnosed it.

I still remember that day in March 2013, when I went back to get the results.  He called me in to his office and I sat there happy in my mind he was going to say “no your clear you do not have Lam.  Instead he sat there and said  “its positive” I felt like the rug had been pulled out from under me.  Everywhere I read on the internet was that it was a 10 year death sentence from diagnosis. I felt numb. My doctor immediately wrote a referral to the professor at the Alfred Hospital.

I searched Facebook for groups for people with Lam. I wanted to know I was going to be ok.  In those early days I was scared but didn’t tell anyone of my fears.  I didn’t tell my work mates or some of my family.  If I  was scared, then I didnt want them to be scared. I wanted to find out more before I told anyone.

I found out from one group that there was an Australian Lam group.  I joined and found such amazing wonderful caring ladies.  One of the ladies rang me and we chatted for a while.  Certainly put my overworked brain at ease.  I was told there was a clinic the following month for the Lam ladies and to see if I could get into it.  I rang the hospital and was told yes I could attend.  These clinics are every 6 months and most of the ladies meet for lunch after the clinic at one of their homes

That day of the clinic was scary.  I was in the waiting room with all these other Ladies who also had Lam.  Most had  Sporadic Lam but there were a couple of ladies who were just like me, TS/Lam.

I had a walking test, I had to walk for 6 minutes and they checked my time (I don’t think I won any gold medals for the walk) and then I had a lung function test.  Also a blood test.  This is to check the oxygen in the blood. Then I went into to see the Lung specialist.  I was terrified, I had no idea what was next.   The Lung specialist showed  me my lung pictures and you could see little white dots all over the lungs.  Lucky for me it was mild.

That first lunch was the start of some wonderful friendships.  I realized that there is life after a diagnosis of Lam.  I was inspired by these ladies.  Some had been diagnosed for years yet they were living their life.  A few are on the new drug Rapamycin or Sirolimus. This drug has been a life saver for many who have Lam.  It was first found on Easter Island  in soil bacteria.  The drugs name came from the islands native name Rapu Nui.  It is a naturally derived antibiotic, anti fungal and immunosuppressant.

Since my diagnosis, I have a preventative I use every morning and night.  I have had a couple of times where I have had to take extra medications.

I have also started taking Affintor or  Everolimus a mTor inhibitors to help with the angiomyiopalomas on my kidneys.  This hopefully over time will reduce them and also help with the lungs and the facial  Angiofibromas that I have over my nose and cheeks.  I was using the Topical Cream and it certainly helped reduce the redness and the “lumps”.

 

Since my diagnosis, I have a preventative I use every morning and night.  I have had a couple of times where I have had to take extra medications. One time  was really scary and my doctor was going to admit me into hospital to have antibiotics via intravenous drip.  I attended a lam clinic during this and was put on stronger antibiotics, stronger preventive and  Prednisolone  I had to attend the clinic every 6 weeks until they could see an improvement then 3 monthly, then back to 6 monthly.  The hospital doctor also sent a letter to my GP advising that when I get a chest infection to treat it as if its pneumonia.

If the weather is really windy I stay indoors as this can affect the lungs. If I do need to go out I wear beanies, gloves and scarfs.

When  I go shopping or walking the dogs, I always take a puffer with me.  When I travel I take with me antibiotics, Prednisolone and extra inhalers. It’s always better to be safe than sorry.

I count my lucky stars every day.  Lucky for me that this rare disease  is mild. Some are not so lucky.  In the 5 years that I have been diagnosed quite a few women have passed away from this disease.  Their condition so severe that they die waiting for a lung transplant.

*x-rays do not pick up this condition* 

In Australia there are  approximately  104 women diagnosed with Lam, these  figures are from 2015.  There are probably many others, however they have been misdiagnosed with other lung conditions such as Asthma.

“Facts about LAM

• LAM is not caused by lifestyle choices
• LAM is not contagious
• LAM develops after puberty and appears to be accelerated by the hormone oestrogen
• Pregnancy and hormonal medication may affect the progress of LAM
• Average age of diagnosis is 35 years, but most women notice symptoms long before LAM is diagnosed.”

 

Since I was diagnosed I have been overseas twice.  Once with both my sisters in 2016 and last year with my eldest sister.  I have been to Sydney and Perth a few times.  I have done Tai Chi, doing physiotherapy and hydrotherapy.  I walk my dogs.  I am doing everything I can to stay as healthy as I can.  I have many other chronic illness’s as well as Lam.

 

Thank you so much for reading and learning a little bit more about Lam and a little bit more about me – Bree.