Life Lessons From An Ultra Rare, Potentially Fatal Disease

What if you were suddenly diagnosed with a potentially fatal disease just when your life, work and marriage were on track and your plans to start a family were underway?

That's what happened to Sue R. Levy.

In 2008, at age 37, she was diagnosed with Pulmonary Lymphangioleiomyomatosis, otherwise known as LAM, a rare, chronic, progressive lung disease in which the lungs fill up with cysts. The result is gradual destruction of the normal lung architecture, compromised breathing and, in many cases, an eventual lung transplant — a procedure with major risks. The LAM Foundation reports 10-year survival, following a lung transplant, at 47 percent.

Fueled by estrogen, LAM primarily affects women in their childbearing years. With only 1,300 documented cases in North America, LAM is poorly understood; currently, there are a few experimental medications in use, but no proven treatments exist.

Prior to the diagnosis, Sue, who lives in Brookline, Mass., had a successful career as a marketing executive, she was happily married, and she and her husband had decided to have kids. Though they struggled with infertility, undergoing six unsuccessful rounds of IVF, Sue still felt that this would work out eventually.

“My whole life I thought the way the world worked is that if you were a good person and you worked hard you could avoid bad things,” she said. LAM changed everything.

Suddenly, Sue was forced to redefine herself as someone with a chronic disease and squarely face her own mortality. In addition, she had to let go of some of her dreams, notably, her desire to get pregnant, as the high levels of estrogen associated with carrying a child would accelerate her lung destruction.

Initially, she was angry. But the disease helped her focus on what she really cares about: she went to school to study nutrition and became a natural foods chef. In 2011, inspired by her own healthier lifestyle changes, she quit her marketing job and started Savory Living-Healthy Eating, a nutrition and health company that provides online healthy eating and cooking classes.

In addition, Sue and her husband now have two young daughters, conceived using egg donors and a gestational carrier.

Listen to Sue’s story here:

Interview highlights:

From 'Healthy' To 'Terrifying'

If you had asked me before my LAM diagnosis I would have told you that I was a healthy person, that I am living a healthy life. There isn’t a disease in my family. This is something I don’t have to worry about and I’m doing great. What was so interesting is that the signs couldn’t have been clearer that I wasn’t. I was heavier, the energy wasn’t great. I had a lot of digestive problems and I faced infertility. But I just thought that was the way life was. I had had a lot of pain and it felt almost like this boa constrictor was around my midsection squeezing my rib cage.

So I went to the doctor and he said ‘You know I’m worried that maybe you have a blood clot in your lung, I want to go get a CT scan.’ And they did the scan and on our way back to our house I got a call from the doctor and he said ‘You need to come in right away,’ and I said ‘Oh, is it a blood clot in my lung?’ And he said no. And I said ‘Oh great!’ And he said ‘No, you need to come in right away.’

We got into the office and he actually said to me because he knew we were trying to conceive, and he said, ‘Life as you know it is about to change considerably.

We think you have this rare lung disease and we’ve got to confirm this diagnosis right away because it’s going to impact and change your life.’ And that’s when I read in the literature he handed me that it was ill advised to have children for two reasons – one was it would accelerate the destruction of your lungs but the second was because of the limited life expectancy of the mother. And that was terrifying because I thought, 'Oh my god, if they have this in writing it has to mean you just aren’t going to make it.' And everything just got dark. And I really shut down.

I think he would have been better off saying ‘We noticed something strange in your CT scan, it’s in your lungs, looks like cysts, but we want to get you to a pulmonologist to really evaluate it and confirm.’ You don’t give someone what looked to be like a death sentence when you’re not sure that they have that disease. And he also should have known enough to know that with rare diseases, there’s not one answer and there’s not one path and progression.

Pregnancy Dreams Dashed

So there I am, a woman who has been in marketing for the last six years working in ultra rare diseases. And to then get the diagnosis of one of those myself was sort of astonishing. But it was also amazingly helpful to be in that field because I knew right away that I had to find someone who saw a lot of patients with this disease. I wasn’t going to be someone’s guinea pig. So I found a center in Cincinnati that specializes in it, they referred me to a doctor in Boston who had tons of patients — well, tons was like 10 for the disease.

At that point I put myself in their hands and she said, 'You need to do a lung biopsy to confirm this.' So they put me in the hospital, collapsed a lung, did the biopsy, and then I remember coming out and then waiting for her to tell me what it was. My husband and I were in the room together and she came in and she was wonderfully compassionate about everything and also really able to cut to the chase and be honest with you. She said, 'So you have LAM. I’m really sorry and we can talk about your future. I know you want to have children and I’ll support you if you choose to become pregnant but I really, really don’t recommend it.'

A Dark Place

...My mind went to worst case scenario. My husband was already wrestling with his own things around it and I didn’t want to talk to him anymore about it and I didn’t want anyone to cheer me up about it or tell me to look on the bright side, I just wanted to go to that really bad, dark place and wallow in it. And there were points where I thought am I going to get out of here? And is the person who gets out of here going to be the same? And that for me was the largest fear, because I thought 'Oh my god, it’s going to change me and I’m going to be a dark, miserable person,' and I didn’t have the perspective and the understanding yet to say, you know what, it will change you but you choose hope or you choose despair. And you can have despair at times but the path you choose, you decide where you want to go.

For me in the beginning I needed to live in the worst-case scenario. And I needed to go to that dark place and really wrestle with it. And the problem I found was that my family and the people closest to me didn’t want to go to the dark place and they didn’t want me going to the dark place. So there I am on the train all alone holding my ticket. Even now I still feel like that’s the hardest part of all of this. You’re surrounded by so much love and help but you can feel so alone. I used to really wish that my disease wasn’t so uncertain. I kept saying how long do I have, how long do I have? And no one could tell me, that which was so frustrating because I thought, 'How do I fight this?' I was really upset that I didn’t have that option. I felt really awful that I was passive and a victim and I had to just wait and see.

I was raised pretty religiously but also in kind of the old dogmatic Judaism where it’s kind of like God is a man and he’s presiding with a staff and you know at the beginning of every year, if you get sealed in the book of life for a good year or a bad year it’s because of things that you did and you have control over that. So that reinforced this concept that if all these bad things are happening, I must have done something.

Heaven On Earth

And I remember he said to me, well, what would heaven be like for you? What do you want it to be? And I remember I thought well its going to be the people that I love, and it’s going to be people spending time together, helping each other and full of a lot of laughter and love. And he said, ok well what’s stopping you now? Make your own heaven on earth...

I knew I wanted to enroll in nutrition and I went to school to study nutrition, and I kept tinkering with myself. I was a guinea pig. I’d try this out and I’d try that out and let me crowd in these foods and take out these foods. And the transformation was amazing in that maybe it was a combination of getting out of something I was not interested in, focusing on something I was incredibly passionate about, and also helping myself and giving myself the time and energy to really heal. My goal was less about preventing something from happening and more about how do I want to feel each day when my head hits that pillow and what I found was that I loved how I felt.

My energy was really good. I lost 35 pounds, my digestive problems stopped and I didn’t need to be on any medications, my allergies went away. And I felt like I was just breathing and living better and it was so awesome to go for my lung tests and to see my lungs holding steady instead of declining.

Embracing The New Normal

What is so interesting now is that I realize it’s not about fighting. It’s about loving the part of me that just isn’t working the way it should and figuring out how to hold it and nourish it and give it the best chance of working well within me. I stopped being angry at my LAM and I stopped hiding it from everybody. And the moment I did that and I was able to say I have this disease, it’s a part of me, I’m going to embrace it, and I’m going to see where it takes me.

I’m so thankful for the LAM. I shudder to think how I would be living if I didn’t get this diagnosis. Which is the craziest thing to say because it’s not a good disease to have but what I’ve found is I’m not on autopilot. It got me to say what do I want life to be while I’m blessed enough to be here and I’m going to go after it. It got me eating better, feeling better, having better relationships, letting go of the people I needed to let go of so long ago but was afraid to. I don’t care about the stuff I used to care about. And every time I get wrapped in something I just sort of go, all right that’s crazy, come on, Sue. And also I love who I am now. Failing body parts, great body parts. I have more courage and determination and love in me than I ever thought I knew. And it just burst out.

Dr. Annie Brewster, author and audio producer, is a Boston internist and founder of Health Story Collaborative, a non-profit organization dedicated to harnessing the healing power of stories. You can hear and read more of her stories here and here, as part of our Listening To Patients series.