Clinical Trial Denial #IYKYK
We are approaching six years of Caleb and Dunky being diagnosed with Duchenne Muscular Dystrophy. The hope that emerged during conversations with other families, clinicians and scientists was promising. I wasn’t guaranteed anything, but I was told from many different people that Duchenne will look different for my boys due to the advancements in treatments that were surfacing. It was never said but the sentiment was “If you have to live with Duchenne, now is the best time for this diagnosis.“
However, six years later, Caleb (10) is now nearly 100% wheelchair bound and Dunky (8) is slowing down by the minute. Don’t get me wrong, some of those treatments that were surfacing have been FDA approved, have hopes for label expansion or are close to approval. But there is so much we didn’t know six years ago, that we do know now……..none of those treatments will benefit my boys in the near term. Dunky and Caleb have a rare mutation (deletion of exons 6 – 17) which we were told early on may mean they have less impact on their cognitive ability. While that might be true, it is now thought to have an increased impact on their heart.
We are so happy for all of those that are benefitting form promising exon skipping drugs or gene therapy, but we, unfortunately, continue to watch Duchenne rob my boys of their ability to function as normal kids.
Earlier this week, Dunky was screened for a clinical trial. It wasn’t a life-changing treatment, but it was a drug that is thought to slow the progression and keep boys ambulatory for longer. There is more to being ambulatory than a badge of honor, though it feels that way sometimes. Keeping these boys ambulatory helps them burn calories and keeps organs moving that otherwise get lethargic when wheelchair bound. This journey started nearly 9 months ago when both boys were deemed eligible for a screening of this trial. One cohort, to the next cohort and then evaluating BMIs. Dan and I had already decided we wouldn’t put up Caleb as a candidate. It’s really hard to choose when you have multiple children but you evaluate their current state and what they might be able to handle and make decisions. You will never know if they are the right decisions, but you have to go with it and be confident.
In May of 2023 when this trial first came up, Caleb was slowing down at a rapid pace. He was falling a significant amount and we were seriously considering an invasive foot surgery to straighten out his right foot. Due to these factors, we passed on Caleb and he underwent surgery in the summer of 2023. We embarked on a risky surgery as we knew we could get his foot in a good position, but we didn’t know if it would help him walk. We will never know if it helped or hurt, but what we do know is his foot is straight to help with standing and transfers and we have decreased his falls risk to nearly zero given his walking is now minimal if not non-existent.
Back to Dunky, he was deemed ineligible due to his BMI for the cohort at hand. I seriously considered dramatically decreasing his food intake and giving him healthy doses of Miralax prior to the trial screening, just to help him pass. But then I prayed for clarity and answers and realized how ridiculous my plans were. So while the trial worked to eliminate the BMI requirement for future cohorts, we declined the screening.
Fast forward to a future cohort where the BMI was eliminated and we were invited for a screening. Funny enough, the BMI is no longer an issue for Dunky as we have moved him to weekend steroids and that has helped with his physique. Some believe weekend steroids may slow the kiddos down, but there is not data to support that. Regardless, high BMI slows them down anyways, so we decided to make that change. Enough time has passed since initial discussions that this disease has taken so much of my little Dunky. But here we go anyways, we had to give it a shot.
Our little guy was so brave. He reluctantly signed his name agreeing to do all of the things the trial asked of him, and it was a lot. Physical tests that would be no big deal to a typical kiddo, but causes stress on these boys that struggle so much and get exhausted so fast. There were many appointments, blood draws, heart scans, etc but he said he would do it.
And so it began. Things were going well, until the blood draw. You would think he’s had them enough that it would be no big deal, but he screamed bloody murder “you guys….I quit” over and over. It hurt my mom heart. But then it was over and he said it wasn’t so bad.
Time passes with more tests while I wait in the lobby for my brave boy and then it happened. They pulled me into the room and I knew right away based on their faces. Dunky just couldn’t complete one of the two timed tests in the allotted time, it was to get off the ground to standing. What he could do fairly easily just six months ago, had become extremely difficult and nearly impossible.
I sobbed and Dunky asked over and over why I was sad. All I could tell him was how proud I was of him for being so brave, for giving it his all. But what I didn’t tell him is I’m so damn sad that this disease is taking so much from him in what feels like such a short amount of time. I wasn’t sad that he failed, I was sad because it was yet another reminder that Duchenne is winning their bodies over.
We recovered at the hotel with chocolate milk and prosecco and thoroughly enjoyed the rest of our stay. It was traumatic for me, but Dunky only remembers all the chocolate milk I let him have and the sushi we had that night. These boys are so brave and resilient.
While we continue to notice things they can’t do, we are committed to not letting Duchenne win their spirits. As always, we are thankful for all of the love and support as we navigate unchartered territory with this disease. We know we can’t do this alone!
1-22-24
