When a life alternating disease like Duchenne enters into your home it feels like your life stops while everyone else’s keeps going. I have learned that when it comes down to it, health, joy, and living a life with purpose are all the things that really matter.
The day we received our son Conner’s diagnosis, we were completely devasted. I never thought I’d quite recover from that hopeless feeling. Our hopes and dreams for Conner constantly flashed by and there seemed to be no way out of our sadness. We were brought to our knees. While our faith may be big, we found ourselves in some of the darkest places of our lives. We realized after months of grieving, that we needed to take action not only for Conner’s life but for the sake of our young family.
We began searching for clinical trials that fit Conner’s profile. Many felt out of our reach. We were looking for anything to extend his runway. There were options, which was a good thing but not knowing which trial to become involved with was very stressful.
The doctor appointments, procedures, and preparation for travel to various sites are all exhausting, and all you want to do is switch places with your innocent son. We realized that we would take anything that would slow down the progression of this monstrous disease. We knew that time was against us and Conner needed a lifeboat. Weighing risks and benefits became second nature.
In Conner’s young life he has been put through many MRIs, long and hard ones for a little guy, time function tests, more blood work than I can even count, and IV ports for one trial that broke my heart. I can clearly remember Conner at 4 years old trying to build Legos with an outstretched arm that was all wrapped up with a tube hanging out, ready for the next blood draw. He walked around that clinic smiling and happy as can be. Conner always makes the most out of things. His bravery is always something I admire, and I try to take on that same level of trust.
Participating in a clinical trial means agreeing to your child being poked, prodded, and often having to spend hours performing time function tests while you just wait and hope for improvement. There is so much give and take involved. My heart still skips a beat when I think about Conner’s little body going through so much for science. Giving something back to the scientists who put their blood, sweat, and tears into saving lives means something, yes, but that’s not all you hope for.
One day we received a phone call that Conner may have a chance to participate in one of the gene therapy trials. As many emotions ran through my head, we were mostly excited and scared. We waited and hoped for this phone call and when it finally came, we knew we would agree to just about anything they needed us to do. We knew our risks were high entering a trial like this, but you see with Duchenne you’ll take that risk if it means a chance to save your child’s life.
I can remember getting ready for Conner’s first muscle biopsy. It was one of three we had to agree on to enter the gene therapy trial. Nothing can quite prepare you for surgery. I knew any type of surgery was risky and the thought of putting him through an invasive procedure was tough. Many questions ran through my head: “Is this the right thing to do?”, “Is this necessary”, “Will he be upset with me now or when he’s older as scars are lasting?” and “Will he question our decisions?”
To be quite honest my first questions were short-lived, and I found my answers quickly. I knew this data was imperative, and I knew these were the necessary steps we had to take to give Conner that chance he desperately needed.
We met with the doctor and the clinical coordinator leading the study and they explained the procedure. I think one of the strangest parts of this entire process was that after a small piece of muscle was taken from Conner, it was immediately put-on ice and sent straight away to a lab for testing. The clinical coordinator literally stood outside the operating room with a bag and cooler.
Before each of Conner’s muscle biopsies, we met with the anesthesiologist and surgeon. Each time Conner went in for surgery we were on high alert. We wondered if it was safe. I always had a few pleas, and I was sure to repeat these several times in a matter of minutes. One being, “Are you sure the Succinylcholine will not even be in the operating room because Conner can’t have this?”, “Is this surgery safe?” and “Please keep the scar at a minimum, above the t-shirt sleeve line if possible.”
The surgeon had gotten to know us by the 3rd round so he was certain to assure me that he will take care of Conner, going over my requests, one by one with a smile on his face and kindness to rest this tired mama’s heart.
It’s crazy that I was so concerned with the scars, hoping they could be tucked away in his shirt sleeve. Now 3 years later it’s not even a thought, as they are not always covered up. I often see one of them peeking out of his shirt sleeve and that’s ok now. Hindsight is always 20/20.
My first thought was that Conner’s scars would be a constant reminder of DMD and what it has taken from our family, but I quickly realized these scars are marks of Conner’s courage. They are part of our story to tell without saying a word.
His scars are fairly small, but the stories behind them are not small at all. Science IS truly amazing, and I am grateful. Given what we know now about the muscle biopsy procedures we went through and our experience, I would do everything all over again. I encourage others to take that leap of faith, not only in science but trust that gut feeling each of us holds. I have to believe that one day Conner will understand we had and always will have his best interest at heart no matter what the future hold.
Some important things to think about before, during, and after a muscle biopsy:
- Ask questions. Doctors are there to support you. They are there to answer the hard questions. There are no unnecessary questions. You are your child’s advocate. Ask as many questions as you can think of and ask them again if you need clarity.
- Discuss the use of medication prior, during, and after the procedure. Discuss pain management and find out what is typical. Our son was sent home with prescription pain meds but he did not need these. He took Tylenol for a couple of days after the biopsy and he felt minimal discomfort.
- Talk to the anesthesiologist personally. We went over all the protocols and safety measures. Print out the anesthesia risks for a DMD patient. Bring them with you and go over them with the doctor. Most likely they will know ALL about these, but you can never be so sure. It will give you peace of mind to go over everything.
- I chose to go into the operating room just until Conner fell asleep. As hard as this is, it is something I like to do so Conner is not scared of being rolled away with strangers. It’s not easy to watch your child having a mask put over their face, but I held his hand and hugged him tight. Our eyes stayed locked until they closed and then I was whisked away to the waiting room.
- Plan something light to do after the procedure, like getting ice-cream or have something for your child to play with when you get back to the hotel. Conner felt fine after the anesthesia wore off, but some kids are groggy and just want to rest. Kids do bounce back quicker than we do.
- Be kind and take care of yourself too. You need to be healthy both physically and mentally and this is important. I remember grabbing a stuffed animal at the hospital gift shop for Conner and getting a few new pairs of earrings (something that makes me so happy- earrings!!), and every time I wear them, I smile BIG. I remember thinking, “ I can’t believe I’m getting something for myself.”, but you know what, I am glad I did!
- The decisions you make are always the right ones given the information you have at the time. Give yourself the grace you deserve.