First off, I want to acknowledge the overwhelming amount of support that my first post brought on. I never in a million years thought that my words could reach so many people and bring on such an outpouring of love and support toward my family. So thank you, thank you to everyone who has reached out, donated, shared and read about our story. We now feel like we have an army who can help us in our fight.
One of the most asked questions as people found out about Trent’s diagnosis was, “how did you find out?”. Anyone who Googled Duchenne Muscular Dystrophy easily found that it is not typically diagnosed this early. Rather, it is diagnosed when boys are a bit older and start to show signs of weakness. Our case was slightly unique (although not incredibly uncommon) and we found out that our son has DMD before he even came close to taking his first steps let alone walking. So for all of you who want to know how- here is the story before THE STORY.
Trent was about 5 months old when we went to the pediatrician for a well check. At this well visit it was determined that Trent did not gain any weight since his last visit 2 months earlier. This was slightly concerning to the doctor so he ordered blood work, altered my nursing schedule and sent us on our way with the hope that he just needed more milk than we was getting. We received a call a few days later that Trent’s blood work showed elevated liver enzymes and that we needed to go see a pediatric gastroenterologist.
About a week later we went for an appointment with the specialist. She was very confident that the elevated liver enzymes were a direct result of him being underweight at the time. We worked hard to alter his milk intake and Trent quickly packed on the lbs. We retested his enzymes and they were high but lower than the initial test. This was great news! Problem solved! Until we went for a repeat test a few weeks later only to find out that Trent’s enzymes were now higher than ever and his weight was steadily increasing. After about two months of weekly blood work, ultra sounds and specialist visits the GI called and notified us that she would be running a “muscle test” on Trent’s blood. We had no idea what this meant or what it could mean to our family at the moment so I agreed and went on with our day.
Two days later, the phone rings and it is the doctor calling to notify us that his “muscle test” came back high & that we needed to see pediatric neurologist ASAP. After some further questioning I was able to put a name (CPK) to the test and was told that Trent’s levels were at 35,000 compared to the norm of about 200. I hung up the phone, made that neuro appointment and did what any of us would’ve done- googled what this might mean. The search results were devastating. The only explanation I could find was Muscular Dystrophy. I couldn’t believe my eyes and thought for sure this was just a case of Google doctor gone wrong.
The next day we went to see the neurologist who proceeded to tell us that our son did in fact have MD and we just needed to figure out which type. He continued to tell us that there is nothing to do until he starts to “fall”. Here we are sitting in a room with our 6 month old baby hearing news about something so life altering when all we thought was that he needed to gain weight. This just didn’t seem possible, he was strong and happy and showing no signs!
Our next step was to find a Neuromuscular clinic who could tell us more about this and help us figure out which form (if any) of MD our son had and what this meant. Within a week we were seen at CHOP by doctors who did a great job of explaining what needed to be done. They unfortunately agreed with the probable diagnosis that we were already given and explained that genetic testing would be the only way to confirm. They connected us to Decode Duchenne and completed his genetic testing in June. This is when the grueling three month wait for the results started. And well- this is where I began my story last time. By now we all know what they told us three months later and the unfortunate prognosis that was given to Trent.
That brings me to where are we going? What are we doing now? Well as I write this, we are currently in route to Children’s National hospital in Washington D.C. to meet with their neuromuscular team. This is our first stop on our quest to find Trent the best team of doctors to care for him going forward. There are a select (9 to be exact) few clinics in the United States that are deemed the best in Duchenne care. Unfortunately, CHOP was not one on the list and they were unable to provide us with the quality care that we are looking for. So on we go- first stop D.C. and then off to Cincinnati Children’s and Nationwide in Ohio this February. Trevor and I have very pointed reasons for our choice to visit these three clinics. Each clinic has something unique to offer and is known for their doctors who are at the forefront of DMD treatment and research.
Finding a clinic is the first step on our journey. Once we know where his care is going to be managed, I believe that we will start to feel a sense of relief going forward. At least at that point we will know that he is being monitored & evaluated regularly. We will have someone to answer our questions and help us stay connected to clinical research and trials.
Our journey is just beginning but we have already found support, connected with amazing organizations such as Parent Project Muscular Dystrophy and started our community,Powers Promise (www.powerspromise.org). Not too bad in two months time, right? Oh and let’s not forget that we now have the happiest little ONE year old as we celebrated Trent’s birthday this month.
Stay tuned for an update about our visit to Children’s.
Keep reading and sharing- the more people who know what Duchenne is the better.