My journey to where I am now began when I was a senior in high school and was a passenger in a major car accident. Miraculously, I escaped without serious injury; however, something in my blood work that night came back abnormal.
I was told that my blood results showed very high liver enzymes, and an elevated CK level. They said I either had suffered some sort of internal injury, or there was an underlying condition. After excluding injury as the cause, it was determined that it was a pre-existing issue that needed to get checked out.
The next year was a blur of tests, specialists, and office visits, ultimately culminating in a muscle biopsy. At first they thought I had a liver disease, but this was soon ruled out. After a seemingly endless journey from hospital to hospital, they were finally able to diagnose my condition – dysferlinopathy. My biopsy showed I had an absence of dysferlin. My neurologist at the time explained to me that I was “missing an enzyme” and that eventually it would manifest itself with symptoms similar to muscular dystrophy. Although I was concerned, I was reassured that the symptoms wouldn’t take effect for many years, and by that time there would certainly be a cure. So I didn’t worry about it.
I made it through college in Boston without any symptoms, able to do everything a normal person could do. Knowing what I know now, I am so thankful that I was able to have a normal college experience!
This dysferlin word, however, was always in the back of my mind. I could always tell I had thin calves, and couldn’t seem to gain shoulder and back strength at the gym as much as others could. I didn’t let it affect me though – after all I could run, climb stairs, play basketball, and was full of energy. I graduated from Northeastern University in 2008 feeling fine, ready to take on the world.
It was around this time when things began to change.
Red flags began to surface when I would go for runs and couldn’t make it more than half a mile before my legs tired out. Or I would move to a new apartment, go up a staircase with something heavy, and my legs would spasm. I started being able to do fewer and fewer pushups, until I couldn’t do any. All of that paled in comparison to last summer (2011), however, when I walked down the street, took a step forward, and crumpled to the ground. It was getting serious. My body was deteriorating, and there was nothing I could do to stop it.
This transition from ability into disability was life-altering. I can’t put into words how emotionally draining it was, and still is. Thinking about the enormity of the situation and what lies ahead depressed me greatly. It felt like there was a giant dark cloud over my head every day.
In the last few months (early 2012), however, I’ve begun to come to terms with the disease much better. I’ve moved to an apartment with an elevator, and avoid stairs at all costs. I now wear leg braces to get around, which has brought back a sense of security I had lost when I fell. I am very deliberate with how I use my energy. I am determined almost to the point of obsession with keeping what remaining strength I have as long as I can.
That said, there are still some days that are more difficult than others. I see friends my age buying homes, getting married, and taking the next step in their lives. It makes me wonder where I’m going to be in the next few years not knowing what my physical capacity will be, or if I will be able to find a spouse that will be willing to look past my disease.
But enough with the what-ifs.
I am blessed to have a strong support system of friends, family and faith to help me through the tough times. I have a job I love and that understands my needs, and allows me to work from home whenever I need to.
Although I wish I never had this disease, I take comfort in knowing that I’m not facing this fight alone. I am thankful to the Jain Foundation for helping me get genetically tested, and providing resources and information that keep me educated. I have read the other patient stories and am both disheartened by how long it took to get an accurate diagnosis for many, and inspired by everyone’s perseverance and positive attitude.
There are a lot of uncertainties with this disease, but one thing is clear – no matter how many times it makes me fall, I am going to get back up.