Please help our mom battle her rare disease (LAM)

We humbly ask for your help not only in raising awareness for LAM Disease, but by helping my mom get life saving surgery!!

A little about LAM Disease, this is where abnormal muscle-like cells grow out of control in the lungs, lymph nodes and kidneys. This horrible disease has a 10-20% mortality rate within 12 years and only a 10–30-year survival rate with potential lung transplants needed.

There is no cure for LAM, but some treatments can help ease symptoms and prolong life expectancy.

A Hiatal Hernia has bulged up through Jen’s diaphragm allowing the acid from her stomach to leak into her lungs each night as she sleeps, causing irreparable damage, reflux pneumonia and resulting in constant cyst growth.

The health plan Jen’s team of doctors have decided on is to start with gastric bypass surgery to correct the hernia and create a smaller area of the stomach for acid to sit in,

which will help to protect Jen’s lungs from further damage.

Hello, our names are Kaitlyn and David Ramadge. This is our mom Jennifer, and she is our everything!

She turned 47 years old in June. Not very old. She's funny, intelligent, loving, would do anything for us or anyone for that matter, snuggly, loves animals, especially Mini Schnauzers and cows, spontaneous, generous, and she loves us, her family, more than anything in this world. She loves to go camping and fishing, do crafts, cook, travel, and see new places. We love spending as much time together as a family as possible. That is the most important for our mom. We love playing games together and having campouts in the lounge room watching movies. One thing is sure; we are ALWAYS laughing and happy.

At least we've tried to be...

In 2014 my mom was diagnosed with a condition called HaNDL syndrome. She was in the hospital for 11 days and appeared to have a stroke. After many neurological tests, EEG, Lumbar punctures, etc., it was determined that my mom had white cell count in her brain fluid that should not be present. There was no way to get rid of it, it was a rare disease, and we learned to live with it. She began having seizure-like activity, but it was determined they were not epileptic, more related to the changes that were connected to her recent diagnosis and no one could explain what was going on.

She learned to live with it. We all accepted it. Nothing further seemed to happen with it, so we felt blessed.

Until...

About two years ago, mom was told she had something on her lungs. Having lost HER mom in 2019 to lung issues, she was scared of following in her footsteps. The GP assured her it was nothing major. However, my mom knew she didn't feel herself. She was getting short of breath. She was building significant amounts of fluid in her legs, and despite using medications to reduce this, it was not going anywhere. She tried so many things to lose weight, only to lose a few kilos and then come to a screeching halt and not be able to shift any more, no matter how hard she tried. She tried the keto diet, shakes, Ozempic, and simple caloric deficit, but the big problem was movement. She tried hard, but it wasn't easy to catch her breath on certain days. Some days she couldn't even walk through the house without being short of breath.

She told the GP this information numerous times, and he finally sent her to a cardiologist who performed a stress ECG and determined her heart was in good health; however, her lungs were not in good condition.

After a long conversation with him, it turned out that my mom was found to have cysts on her lungs back in 2020. More investigation needed to be done, but it was more than a "nothing major," as initially thought.

After blood tests, ct scans, ultrasounds, lung function tests and visits with a lung specialist, it is determined that my mom has been diagnosed with LAM. We don't even know if there is a connection between the two diagnoses at this stage.

Getting this diagnosis was such a blow to our family because it is so rare and frightening because everyone is different.

We were told that LAM was a progressive and terminal lung disease. We were told that she would probably experience lung collapse at some point. She would eventually need oxygen, and as the disease progresses, they can discuss a lung transplant.

Scary words for me to hear. Not even my brother knows the extent as he has autism and will panic thinking everything is happening "tomorrow." He just wouldn't be able to understand or cope. She doesn't want him to panic, so even through all of this, my mom is still protecting us.

WHAT WE ARE RAISING FUNDS FOR

My mom has never been a small woman. However, she has always been energetic and active and able to do everything without much issue until a few years ago when this all started. That was when she began to put on a few more kilos. She would go back on Keto, but the weight wouldn't come off as easy, and she would complain of needing more breaks when walking to catch her breath. We noticed her legs were more "swollen" around the ankles and calves. But she kept trying.

We're now at a point where we know why this is happening, and she isn't able to lose more than about 5-8 kilos before it all comes to a halt.

It is a vicious cycle. She tries to lose the weight, she gets breathless, her legs build up with fluid, she needs to take more breaks and therefore her lungs don't get the work out they need and she becomes more sedentary and stops her lungs from getting the work out they need as well as losing the weight.

MY MOM NEEDS HELP AND WE'RE ASKING YOU TO HELP HER, PLEASE!!!

If my mom can get this surgery, it will...

1. Help her lose the weight she needs to take off the added pressure to help her lungs

2. She will be able to move easier. Go for walks a bit easier. Feel less pressure on her lungs and hopefully regain energy.

3. It will help relieve the pressure on her lymph nodes and blood vessels, reducing the fluid retention to some degree and making the lymphodema easier to treat and manage

4. She will benefit more from respiratory rehab.

5. Last but not least, it will prepare her in the event that if she needs to have a lung transplant, it will increase her chances of being accepted to be put on the list.

Here in Australia, there are only two ways to have the necessary surgery needed. You can either go as a public patient and be put on a waiting list that can take anything up to 5.5 years at the moment. Or you can have it done privately but at your own cost. My mom doesn't have the time to wait for the public system on a waiting list. She needs this NOW to hopefully slow up the progression of her LAM.

So that is our story to date. We will keep you posted with the progression. We would be ever so grateful and appreciative if you could find it in your hearts to help our mom. Every little bit helps.

Thank you for your time

Kaitlyn and David Ramadge

https://thelamfoundation.org/

https://www.livingwithlam.org/

What is LAM?

-LAM is short for Lymphangioleiomyomatosis (lim-FAN-je-o-LI-o-MI-o-ma-TO-sis)

-IT IS A RARE PROGRESSIVE AND TERMINAL LUNG DISEASE that usually strikes women during the prime of their lives.

-It is characterized by an abnormal growth of smooth muscle cells, especially in the lungs, lymphatic system and kidneys.

-Unregulated growth of these cells can lead to loss of lung function, accumulation of lymph rich-fluid in the chest and abdomen and growth of tumors in the kidneys.

-There are two forms of LAM, Sporadic LAM (S-LAM) and Tuberous Sclerosis LAM (TSC-LAM). S-LAM occurs for unknown reasons. LAM also can occur in women who have a rare disease called TUBEROUS SCLEROSIS COMPLEX (TSC).

How LAM Affect the Lungs?

-When you breathe, oxygen passes through the airways to tiny air sacs (alveoli) in the lungs, where oxygen transfers into the blood through a network of tiny blood vessels called capillaries. The abnormal smooth muscle cells of LAM cause blockage of the small airways and release factors causing damage to the lung tissues, resulting in compromise of airflow and oxygen transfer to the blood. Changes to the airways and the lung tissues result in symptoms of shortness of breath and in some individuals, low oxygen levels.

-Cysts in the lungs can rupture, allowing air to leak from the lung and into the chest cavity. This condition called a pneumothorax or collapsed lung, is common in women with LAM. As the lung leaks and deflates, it often causes discomfort and shortness of breath.

-Some women with LAM will also develop blockage of lymphatic channels from LAM cells, resulting in abnormal fluid collections in the chest and abdomen.

The Course of LAM

LAM is a progressive disease, but its progression is usually slow. In some women, however, the disease progresses at a rapid rate. Doctors are working to find indicators (biomarkers) that will help determine who will have a more rapid rate of progression and who will progress more slowly. Whether disease progression is slow or rapid, lung function tends to decrease over time. Many LAM patients will, at some point, require oxygen therapy.

The Treatment of LAM

-Although great strides have been made in researching the disease, there is no cure for LAM. However, treatment with the drug sirolimus (also known as rapamycin or Rapamune) as well as everolimus (also known as Afinitor) may improve lung function in some women with LAM.

-Oxygen therapy is required for women with advanced lung disease.

-Lung transplantation is often considered for very advanced disease. While many women with LAM add several years to their lives through lung transplantation, it is not a cure.