Bennett's Story

To tell the story I want to tell, I have to start at the very beginning. This takes me back to about this time four years ago. It was then that I received news that was to change my whole world forever.

I remember back when I first met my biological mother, Maria, when I was about 18 years old. From the very beginning of our relationship she has been the epitome of love, respect and grace. She never pushed herself on me and never wanted to burden me by being a part of my life. But there was something very important she needed to share about our family history. This was the first time I had ever heard about Duchenne Muscular Dystrophy (DMD). A little research had me absolutely terrified. This was the late ‘90s, early 2000s and the landscape of the disease was very desolate. I signed up for an email newsletter from an organization called the Parent Project Muscular Dystrophy but I never really read them. Occasionally I would peruse but it would make me too sad to really delve in. This was my first exposure. I never did get to meet my biological cousin, Jason, Maria’s nephew. He passed away at the age of 22 as a result of having DMD. I was so, so sad. He was the third person in Maria’s family to pass away from Duchenne. It hit close to home, too, because even though I had never met the people in my biological family who had DMD, I knew the face of muscular dystrophy well. My mother, Sharon – the most amazing, beautiful, strongest woman I’ve ever known – had muscular dystrophy. Her type was called Myotonic Muscular Dystrophy and was adult-onset. I watched her go through her life fighting so hard to maintain her independence and she battled bravely until she took her last breath. It was, without question, one of the most difficult things I have ever been asked to endure, watching her decline and eventual passing. So when Maria let me know that I could be a carrier of Duchenne, my 18-year old brain could not handle such information. So I filed it away in the back of my mind and knew that one day I would re-visit the information, when my life was in a different place.

Flash-forward to March 2011. I was around 4 months pregnant with my first child. As I’ve mentioned in a previous post, Bryan was well-aware of the fact that I could be a carrier of Duchenne and we made the decision together that we would love our baby no matter what, even if I was a carrier. Some people might think we are horrible people for making the decision to get pregnant anyway but we made the best decision we could make at the time. We didn’t know if I was a carrier. So, we decided to get a blood test to confirm. After what felt like an agonizing amount of weeks, we got the results. Yes, I was a carrier. I was heartbroken. I was so, so scared. We knew that it didn’t matter what happened because we were going to love our baby no matter what, but what if? There was a 50% chance that a girl would be a carrier and a 50% chance that a boy would have Duchenne. I prayed and prayed that our child would be spared of this condition if it were in God’s will. We waited for our anatomy/gender ultrasound which would be in a couple of weeks. When we went in for our appointment, the ultrasound tech put the wand on my stomach and immediately it was undeniable: we were having a BOY! We were so happy but immediately also terrified. This meant that our baby had a 50/50 chance of having muscular dystrophy. We tried to push this to the back of our minds because we were overjoyed to name our baby. We decided right there in the OB’s office: Bennett Avery. Bennett means “blessed”. It’s the perfect name for a perfect boy. My fear of muscular dystrophy was NOT because I felt there would be anything “wrong” with my baby. He was perfect. He was the most special boy and he was designed by God just for Bryan and me. But I was scared because I knew it would not be an easy path for him. I watched my mother face it as an adult and it was the most difficult thing I had ever experienced to that point. To think that my beautiful, sweet, innocent little boy might be facing the same fate – it was almost too much to bear.

So we spent the next few months going to high-risk OB appointments as well as our regular appointments. When we went for genetic counseling after we discovered Bennett was a boy, they noticed some fluid on his brain which they needed to monitor. This was difficult because our genetic counselor and high-risk OB were not my favorite. The GC was very insensitive and said some hurtful things once she got me cornered away from Bryan and his mom, who came with us to learn more about Duchenne. I was angry but I managed to keep my composure. But the doctor wasn’t a whole lot more likeable. We managed to push through since we hoped we were doing what was best for Bennett. By the end of the pregnancy, after weekly appointments (and getting to see him A LOT via ultrasound – definitely a plus) the hydrocephalus had resolved and his brain looked normal. He was born on a beautiful Friday morning, July 22, 2011. My heart exploded. He was the most amazing thing I had ever seen in my life. I had never loved anyone or anything the way I loved that boy from the instant I met him. He had my whole heart.

After a terrible experience with finding a pediatrician, we settled on one nearby and took him for his first visit. We explained that I am a carrier of DMD and that we would like to get him tested as soon as possible. We experienced a little bit of pushback and questions like “don’t you want to wait until he’s a bit older” which infuriated me. No, I did not want to wait. I knew exactly what test we needed and I wanted it. I thought that knowing sooner would be better because in my line of work, early intervention is key. I wanted to find out if he had it so our family could process it and then start being proactive for him as soon as possible. It was a battle. I finally had to call my OB and get him to basically strong-arm the office into ordering the test. In the meantime, the office did order a CK protein test which is one indicator that a child may have DMD. The test measures the amount of protein in the blood which is caused by ongoing muscle damage. A low number means normal protein spillage. An unusually high number is a good indication that there is a disease present. We waited for the results anxiously. This basically was going to tell us whether Bennett had DMD or not. If the CK results were high we would send for a confirmatory blood test. When the CK results came back, our doctor did not ask us to come in to the office. Instead she shared these results with me ON THE PHONE. Let that sink in for a minute. Life-altering medical results shared on the phone. I wanted to vomit on the spot. His CK levels were high. The levels weren’t normal. There was really no other explanation. He had a high probability of getting a positive blood test. More than likely he had Duchenne. I tried to keep it together on the phone. I called my friend and wailed an inhuman sob-cry that no one could possibly understand so she just listened and tried to say encouraging things. My heart ached. My stomach hurt. Bryan went for a drive and called his mom. He cried his eyes out. We were devastated. I wanted to close my eyes and disappear. I was the most scared I’d ever been in my life. A few days later we sent off for the blood test to confirm. I spent the next month of my life in anxious anticipation of the results, found a new pediatrician one town over (whom I LOVE), and read every piece of information available on the internet about Duchenne Muscular Dystrophy. Most of it made me feel the most soul-stirring despair. The future felt BLEAK. I thought about my biological cousins/uncle who passed away when they were 22 years old. I couldn’t imagine what a life that would be, what a struggle it would be. We got our blood test results and it confirmed that yes, he did have it. He is missing two links in the sequence (kind of like puzzle pieces) that have caused his body to stop reading the code to create dystrophin. Dystrophin is a protein that enables our muscles to repair themselves after activity. Without this protein, muscles die little by little, turning into fat and creating what’s known as fibrosis. Eventually boys with DMD must use a wheelchair for mobility. At some point, the lungs and heart are affected. Many develop scoliosis and lose the ability to even move their arms. Often they will develop illnesses like pneumonia that they are just not strong enough to fight off. I cried myself to sleep on many, many occasions and spent my nights up feeding/rocking my newborn, praying to God to help me get through this. I had to find a way to make things better for my baby and help him live the best life he could live. If that was all I could do, then I would do it with gusto and I would help my baby be happy for however many years I had him.

So 10 years after I first signed up for the newsletter, I re-visited the Parent Project Muscular Dystrophy website. There, I found glimmers of hope. I saw that there were a plethora of drugs in development to combat this fatal disease and that were changing the landscape of the prognosis. Bryan and I took Bennett to his first appointment at Riley Children’s Hospital in Indianapolis when he was just two months old. There, we were overwhelmed with amazing staff members. They were supportive, knowledgeable, and most of all, hopeful for the future. They gave us information about getting involved with clinical trials in the future. They shared information about early intervention services and how to be proactive for Bennett. We felt a million times better after we left. The genetic counselor gave me a renewed confidence in the field. She was so kind and warm and answered all of my questions (you know me, there were a LOT). We left that day with uplifted spirits and it was the first step forward in a positive direction.

And now here we are. It’s March 2015. My beautiful boy is 3.5 years old. He is still the most amazing person I’ve ever met. He is so funny, smart, silly, and sweet. He loves his Mama and Daddy and we love him with the fire of a thousand suns. There is new information every day from places like PPMD, Cure Duchenne, the MDA, and so many others about the developments that are being made in the field. I still have my moments when I am stricken to the bone with terror for my child’s future. I worry about how he will do with school, whether or not he will have lots of friends, how he will feel about being in a wheelchair one day, if there will be a cure or at least a treatment that will change his life…so many things. But something I don’t really worry about anymore is whether he will be happy. When I look at his handsome face, those beautiful blue eyes and that gorgeous smile, I know that God has answered at least one of my deepest prayers. Because Bennett has always been happy. And that makes me happy. And it doesn’t get any better than that.