The Hidden Ones: My Life With an Invisible Illness

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My day begins just like everyone else’s. I get up at 7 a.m. get my kids up, hop on facebook and check my updates, get my kids up again, make them breakfast, help to find shoes, backpacks and hair brushes, and wave them onto the bus “Bye! Love you! See you tonight!” Then, depending on how I slept the night before, it’s either coffee, eggs and more facebook or checking emails for me or back to bed for a few more hours before I get up and start my day. Seeing me out and about, walking across the parking lot at Wal-Mart, working my job at a deli, interacting with my kids’ teachers, you wouldn’t guess that there is something lurking in my DNA that is trying very hard to kill me. Looking at me in my day-to-day activities you wouldn’t think that I have a chronic illness. But I do.

For as long as I can remember I’ve been told I had Marfan’s Syndrome. Discovered by French scientist Antoine Marfan in 1869, Marfan’s Syndrome is a hereditary connective tissue disorder that results in abnormally long, thin digits and extremities. It primarily affects the eyes, blood vessels and skeleton (1). I remember when I was 8 sitting in a doctor’s office all day long while my sisters and I got poked, prodded and scanned while we were tested for this. We were all positively diagnosed. So my whole life I’ve lived with the idea that I had this relatively mild form of a disease that caused my aorta to be slightly enlarged and my eyes to be bad. When I was pregnant with each of my three kids, I told my OB/GYN about the diagnosis and he would hook me to an EKG machine a couple of times during my pregnancy and that was that.

Fast forward to August of 2013. I mentioned to my kids’ pediatrician at a routine well-child check that Marfan’s ran in my family and she referred my son (who was the only one old enough to test at the time) to a geneticist to get tested. There was much poking, prodding and imaging and 4 months later the geneticist called me back with some strange and troubling news – my son didn’t have Marfan’s Syndrome. They didn’t know what he had. “He has something in his DNA that looks like Marfan’s but it isn’t,” is what the geneticist told me. “At this point we know that it’s going to affect his heart and his growth because it’s enough like Marfan’s for us to be positive of that but that’s where the similarity stops.” She vowed to do more tests and then hung up the phone. Over the next year I heard from her several times but nothing conclusive ever came of it.

Then came May 27, 2014. It was 9:30 in the morning and I was still in my pajamas, drinking my coffee when my phone rang. It was my mom. “Please come. I think I had a stroke. It hurts so bad.” She was hysterical. I didn’t even put shoes on. I grabbed the kids, jumped in the car and sped the 3 blocks to my parents’ house. She was already on the phone with the paramedics when I got there. The ambulance came and they took her away in a sling because she couldn’t walk. My last sight of her was her being loaded in the back of an ambulance. She died in the helicopter on the way to a bigger hospital. Her aorta had dissected. “It came apart like tissue paper,” is what the doctor who worked on her told me.

Three weeks after my mom passed away, my aunt – my mom’s sister – had her first dissection and her first emergency surgery. A month later, she was in the hospital again with another dissection and another emergency surgery. All these sudden, violent dissections in my family got my geneticist to thinking and she ran another test on my aunt’s blood while she was in the hospital. It came back positive. She ran the same test on my son. Also positive. Over the next several months, many members of my family were tested, many came back positive, including me and my oldest daughter.

We all had Loey’s-Deitz Syndrome. Loey’s-Deitz Syndrome is a connective tissue disorder similar to Marfan’s Syndrome only it primarily affects the heart and blood vessels. LDS (as it is commonly referred to by those of us who suffer from it) was discovered in 2005 by Dr. Bart Loeys and Dr. Hal Deitz. Essentially Loey’s-Deitz makes the walls of the blood vessels and arteries thin and prone to aneurysm. Patients with LDS also suffer from problems with the musculoskeletal system (they are often prone to osteoporosis and scoliosis, even at very young ages), skin (LDS patients often have almost translucent skin) and gastrointestinal systems (LDS patients are prone to a wide variety of digestive issues) (2). Most Loey’s-Deitz patients have a life-long limit on how much weight they can life since lifting significant amounts of weight can put undo stress on the blood vessels. LDS patients are required to undergo annual or semi-annual imaging of multiple types to check for aneurysms and to monitor existing aneurysms. Women who are positive for LDS are advised not to breastfeed since breastfeeding releases hormones that make the connective tissues – already too loose in LDS patients – to soften further, increasing their risk of aneurysm and dissection. This disease affects us in big ways (we can’t to any kind of exercise except light cardiovascular because the risk of falls or getting hit with projectiles, therefore triggering a dissection, is too great) and small ways (no roller coasters that will get our heart rates up too high or movies with a lot of jump-scares). Many of us are going to be on blood pressure medication for the rest of our lives and many of us have had to make permanent diet and lifestyle changes because certain foods and medications can negatively affect the way our bodies work (no antihistamines or regular coffee, or instance). Heart surgery at some point to repair aneurysms – often multiple surgeries – is a given with Loey’s-Deitz patients.

In my own life, the changes were almost immediate. My two oldest kids – who both tested positive for LDS type 2 (3) were both on their school soccer teams at the time of their diagnosis. It killed them to have to stop playing. Because of my new lift limit, there were certain duties at work that I was no longer able to perform. And my kids and I all started going to see a cardiologist every 6 months for endless rounds of tests. We’re now a year into this and my son – who is 12 – has developed an aneurysm in his aorta that is right on the edge of needing surgery and my daughter – who is 10 – is already on blood pressure medicine. I had my first heart surgery on June 23rd, 2015. I had a 5-inch section of my aorta replaced and my aortic root replaced with a mechanical one. Now, for the rest of my life, I have to take blood thinners. I’m 31 years old.

Back before my diagnosis, I was one of those people who saw someone park in a handicapped space and walk in, completely unimpeded and thought “Why do they need a handicapped sticker? They look fine.” I was one of those people who would see a young, able-bodied person on an electric cart and I would scoff. “Get off that, you lazy bum. That’s for actual handicapped people.” But now, especially since my surgery, there are days when I’m so tired just the thought of walking into Wal-Mart to do my shopping makes me want to cry. There are days when I’m in so much pain that I feel like I’m 80 and that electric cart is a blessing. My days now are filled with playing “To Go To the ER or Not” with every little tingle and twinge because you never know when that tingle or twinge is going to be the one that kills you. I wish I was exaggerating. I’m not.

But I’ve learned something since my diagnosis. I’ve learned that I’m stronger than this disease. I’m stronger than that which is trying to kill me. Every day when I manage to get out of bed, every day when I get dressed and go to work, every day when I stand long enough to do dishes or fold laundry. Every time I load the kids in the car and drive the 2 1/2 hours to the doctor, I get a little bit stronger. And that strength is what carries me through the bad days when I just can’t bring myself to get out of bed or go to work. When I just can’t.  And in the end, that strength is what gets us through.

                                 “Fate whispers to the warrior “You cannot withstand the storm”

                                            and the warrior whispers back “I am the storm””

Sources:

(1) http://www.mayoclinic.org/diseases-conditions/marfan-syndrome/basics/definition/

(2) http://www.loeysdietz.org/en/

(3) http://ghr.nlm.nih.gov/condition/loeys-dietz-syndrome

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One thought on “The Hidden Ones: My Life With an Invisible Illness

  1. Pingback: Loeys-Dietz Syndrome: Patient Voices | Chronic Musings

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