I first heard about a research trial being conducted at Nationwide Children’s Hospital in Columbus Ohio for carrier mothers of boys with Duchenne and Becker’s Muscular Dystrophy about a month ago. It was an innocuous Facebpost by PPMD highlighting just one of the many amazing research projects they are providing grant monies to around the country.
But this research project spoke volumes to me because I am a carrier of DMD/BMD. For those unfamiliar with genetic lingo, it means that my son, William, has muscular dystrophy because of genetic coding that came from me.
Sit with that for a minute and consider what that means to a mother psychologically– the guilt, the shame, the anger. In my darkest hours I perseverate on this guilt and take responsibility for something I had no control over. I stew over comments made by other moms of boys with DMD/BMD who aren’t carriers. I rage (in my head) at their seeming sense of pride in not being a carrier and shout “WTF! I thought we were in this together!”
But there is another side to being a carrier, a physical side. I struggle every day with muscle aches and pain and unending fatigue. Oh and I may have some compromised heart health. They just don’t know because no one has studied carrier moms before. But no big deal, my primary care doctor should just monitor my heart. When I relayed this message to the 3-4 primary care doctors I’ve burned through since 2008 they didn’t know what to do and getting insurance to pay for Cardio MRI’s or echocardiograms unless you’ve had a heart attack is a laborious process that may not be covered in the end.
In 2014 I was determined to get to the bottom of my fatigue and body pain. That process involved lots of blood work, a sleep study, more blood work and finally ended with a diagnosis of fibromyalgia. According to Medline “Fibromyalgia is a disorder that causes muscle pain and fatigue…people with fibromyalgia may also have other symptoms, such as: trouble sleeping; morning stiffness; headaches; tingling or numbness in hands and feet; and problems with thinking and memory”. It’s a diagnosis of last resort, you can’t test for it, but it certainly covered all of my complaints. I’ve never been satisfied with this diagnosis though and haven’t had much pain relief with the meds they prescribed for it.
When I found out about the Nationwide research project by Dr. Mendell, I jumped in feet first. I wanted answers and knew this was the only way I was going to get meaningful answers. I also wanted to contribute to a body of knowledge so maybe future carrier moms would have a better sense of what the carrier status meant for their physical health. I connected with one of the study coordinators, assembled my medical records, filled out the necessary forms, bought two plane tickets (Chris was coming with me), booked a hotel, and rented a car. I agreed to be a guinea pig for science and would spend two days giving baseline data to researchers.
I am writing this novella from the airport while we wait for our delayed plane ride home. Two days of tests behind my, the baseline numbers have been collected. I’ll go back yearly two more times for the same tests.
Here’s what my schedule involved. On day one there was a small blood draw, the infamous 6-minute walk test, strength testing with a medieval looking PT set-up, a hair sample was taken, and a battery of socio-psychological tests were administered. On day two there was an early morning Cardio MRI with contrast (meaning an IV- yuck!) and a stress test using an EKG monitor, VO2 max head set, and treadmill. But because the day started so early, I was done by 10am!
I have to two take aways from this adventure (two for now).
1st the doctors, health professionals, staff at Nationwide Children’s hospital are doing amazing work. Everyone I met was friendly, professional, and genuinely caring about moms like me and our boys. They are rooting for us all! I am grateful for these professionals and hope that their research provides some answers.
2nd I was constantly thinking about William and all the boys with muscular dystrophy. They are poked and prodded from such early ages and they somehow manage it multiple times a year. I thought about the boys while I did the 6-minute walk test and how William never got to do the test. The strength testing session with the PT was familiar since I watched William struggle through these sessions since he was 4 – I even had to do the get up off the floor test from a prone position. Finally, as I lay in the MRI tube with an IV in my arm I thought about William and marveled at the fact that he made it through the test once already and it involves a needle and IV! William hates needles. I am in awe of William and all the boys and young men who go through these test and many more frequently. They are the real troopers! For a carrier mom the tests are nothing, but being able to participate in a study that may help others – that’s everything.
For more information on this study see below. To find out what else PPMD is funding thanks to your generous donations, click the link below.
Jerry Mendell, M.D., Nationwide Children’s Hospital
Date: 4/2016 4/2017
Title: Determine incidence and prognosis of clinically significant cardiac, skeletal muscle and cognitive impairment in carriers of DMD and BMD
Abstract: This study is a collaborative project between the Neuromuscular and Cardiology divisions at Nationwide Children’s Hospital. It is a longitudinal study with baseline and 12-month follow up assessments of female carriers of DMD/BMD mutations. The testing in this study aims to determine the frequency and clinical significance of heart and extremity muscle involvement in these patients and will evaluate the emotional burden of being a carrier as well as a care provider for a child with DMD or BMD.
Other research projects: