Expert Insights

Expert Insights

Living with Rare Diseases

Living with Rare Diseases
21 March 2019

We continue to recognize Rare Disease Day, aimed at raising awareness of these diseases, with another personal story on how they impact people and their families. The following is from the wife of Synteract Database & Applications Administrator, Joe O’Brien. Joe’s wife describes her struggle living with two rare diseases.

As a teenager I learned to cope with the red rash on my cheeks and chest; it must be from teenage skin problems, I thought. I learned to write off muscle weakness and soreness as a byproduct of being a competitive soccer player. I ignored the joint pain, since it must just be from a long, hard training session. 

Going into college these symptoms followed me. I was no longer a teenager, and I no longer played soccer so I could not attribute the rash to age or write off the muscle weakness and joint pain. In addition, I started to experience extreme fatigue and daily low-grade fevers. 

Eventually I saw my primary care doctor who ordered basic labs and found I had positive Antinuclear Antibodies (ANA), leading to a referral to a rheumatologist.  My initial experience with rheumatology was frustrating; the specialist I saw discovered my muscle enzyme level was extremely high but didn’t know how to explain my symptoms or lab results so she sent me to a neurologist, who in turn didn’t have an answer and sent me back to rheumatology. 

I stayed in this loop all through college and learned to deal with the symptoms: nap when I could; take ibuprofen and occasional steroid injections at urgent care for the joint pain and muscle weakness; avoid heels because my leg muscles would fatigue too quickly and give out; use hand warmers in my pockets to help with joint pains and stiffness.  After college I moved to a new city to live with my soon-to-be husband, got a new job with new insurance, and after a lot of convincing from my biggest supporter, found a new rheumatologist. 

I was skeptical going into my first appointment because I had been dealing with these symptoms for years with no answer. Fifteen minutes into the appointment this doctor told me I had dermatomyositis (DM). DM is an idiopathic inflammatory myopathy, characterized by proximal skeletal muscle weakness and muscle inflammation. There can also be lung and cardiac involvement and a higher risk of malignancy at time of diagnosis.  The incidence of DM and polymyositis (dermatomyositis without skin manifestations) is estimated to affect two individuals per 100,000 annually.

I was so relieved to finally have an answer that I didn’t think about what this would mean long-term; that came later. I had a muscle biopsy soon after to confirm the diagnosis and was started on steroids and methotrexate. It was a long period of trial and error to find the right combination of medications that improved symptoms with the least amount of side effects.

Three years after my diagnosis and several medications later, one treatment finally seemed to do what others couldn’t and put me into a type of remission, my symptoms subsided. I finally felt “normal” and was able to pursue my dreams and continue my education and career. 

After completing a physician assistant program and starting my career as a PA, the next step for my husband and me was kids. When talking to my doctor about planning a pregnancy the reality of this possibly being difficult set in. After a difficult year of trial and loss, we were blessed with our daughter. This pregnancy was easy for me; I saw a high-risk OB and learned that pregnancy would likely improve the symptoms of my DM, but could potentially worsen them after it. I would have to wait and see. 

Fortunately, pregnancy was the best treatment I could have done for DM! I have been in remission for three years, including one more pregnancy since, and have not needed any treatments or medications. I keep waiting for the day when the morning stiffness I wake up with doesn’t go away or the joint pain that lingers for a few hours stays for days, the day when I will need to start treatment again, but I’m thankful for every day I have before then.

A Second Rare Disease With Genetic Underpinnings
While in college my uncle unexpectedly went into heart failure and progressed rapidly to needing a heart transplant, which he got in his mid 40’s. He recovered well and continued on with daily life. A few years later, when my dad was 50, he developed atrial fibrillation (A fib) and progressed quickly to heart failure as well. My dad responded well to medications and continues to have “stable” dilated cardiomyopathy and is not in need of a heart transplant yet. Two brothers both having the same type of heart failure, without obvious risk factors, was puzzling, so their cardiologist at UCLA investigated further and found they both had an LMNA gene mutation, explaining the early onset and rapid progression. Once my dad was found to have this gene mutation, my brother, sister, and I were tested. I was found to have the same mutation; my brother and sister did not.

I received these results while in PA school. By this point I was coping well with my DM diagnosis, and had learned how to help alleviate symptoms; I had come to terms that it was just part of me. This new diagnosis was harder for me to hear.  There was no treatment or prevention I could start; I already had a mild arrhythmia but not severe enough for medication to manage symptoms. 

A LMNA gene mutation (laminopathy) is a disease causing mutation leading to dilated cardiomyopathy (a type of heart failure) and arrhythmias along with myopathies.  A few studies have also made a possible link between DM and the LMNA gene mutation. Most people with this laminopathy will develop heart failure in their 40s-50s, with some presenting first with sudden cardiac death (I still don’t fully understand how this is a “symptom”), so the main question was if and when I should have an internal cardiac defibrillator (ICD) implanted. I follow up frequently with my cardiologist at UCLA where I did echocardiograms to take a close look at my cardiac function and talked extensively about having an ICD implanted. Our final decision was to hold off on the ICD while my echocardiograms are normal and arrhythmias are stable, but at the first sign of worsening symptoms, I would have an ICD implanted. 

I now see a cardiologist yearly for evaluation of symptoms and heart function. Both of my pregnancies caused some concern for my cardiac function since pregnancy increases work and strain on the heart, but I sailed through with only an increase in my arrhythmias. So for now I try to keep as “heart” healthy as possible and wait.

Coping with chronic diseases is difficult. There is often no cure and little control over the outcome or prognosis. I coped well with my DM diagnosis because the long-term prognosis is generally good, and I could somewhat control my symptoms with some lifestyle changes. Coping with the laminopathy was harder.  There were no treatments, no prevention; it is just a waiting game. 

The hardest part of the laminopathy, however, was knowing my kids have a 50-50 chance of also having the same mutation. My husband and I have recently decided to start the process of having both kids tested for the LMNA gene mutation. It’s hard to not feel guilty that they may have the same uncertainty put on them. But the thing that keeps me positive is looking at my dad and all that he has accomplished and done in his life and is still doing. He works, vacations, goes on annual skiing trips (much to the surprise of his cardiologist), and enjoys being a dad and grandpa. 

What I’ve learned most with having not just one, but two, chronic conditions is that positivity is key, and having a support system is crucial. I, thankfully, have amazing support from my husband and family.

While there is no cure for dermatomyositis, symptoms in many cases respond to therapy. Similarly there is no treatment for laminopathies, and treatment is symptomatic.

We realize the importance of helping patients with unmet medical needs and specialize in studies for rare and orphan diseases at Synteract.

Contact us to learn more.


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