I have been wrestling with this for a while now and am finally able to talk to the world about a very personal issue. Let me start at the beginning. A year ago we decided to have our middle child evaluated to receive growth hormones. Little did we know that an innocent blood test would put us on the roller coaster ride of our lives.
March 2012- Blood test. This was the day my sweet little boy became my hero. They took 8 viles of blood out of his little body and he didn’t cry or move. He gave the technicians his million dollar smile and off we went without a care in the world.
April 2012- I receive a call from my husband that Peyton’s test results came back and his liver levels are high and he needs to be retested.
May 2012- He was retested on a Thursday. Still as adorable and brave as ever. We received a call the next Thursday that he needed to be retested first thing in the morning. Now we are nervous as they aren’t telling us anything else. We retested him on Friday and they told us to be back Monday morning. Needless to say, that weekend we spent most of our time trying to figure out what could possibly be wrong with his liver.
Monday morning we see the pediatrician who tells us it’s not his liver. Phew…or so we think. He tells us that his CK levels are off the charts high. That indicates a problem with the muscles. The levels are so high he fears that Peyton’s kidneys will shut down. The Doctor wasn’t sure if we should see a Neurologist or a Rheumatologist. He finally sent us to see a Rheumatologist that afternoon.
The Rheumatologist looked at Peyton, made him do some exercises and said “well this is curious.” He told us to keep an eye on him and come back next week. We were more confused than ever. Over the course of that week we saw the Neurologist, who also wasn’t sure what it was and thought he may need a muscle biopsy, a pediatric cardiologist, several ultrasound technicians to evaluate his kidney’s, liver, heart and who knows what else. The good news is, Peyton was so happy to be hanging with Mommy and Daddy that all the poking and prodding never fazed him. He just made everyone laugh and charmed them with his smile. Unfortunately we were still no closer to a diagnosis and terrified of the what if’s. The internet is a scary place sometimes.
June 2012- Another blood test
July 2012- Another blood test
We decided that a vacation was in order and headed out in our RV for a two-week adventure. LA to Chicago and back.
On our way back into town we decided to get a nice meal in Texas. Finally some good ol’ BBQ. My phone rings, it’s a bad connection. Then Ethan’s rings, its our Neurologist telling us that we need to see a neurologist at UCLA ASAP and that Peyton needs a muscle biopsy. His CK numbers were even higher. We both put down our forks, walked out of the restaurant and tried very hard to put on a happy face for our babies.
August 2012 – We had our first appointment at the Clinic at UCLA. We absolutely love our Doctors and were glad he was transferred to a first class facility but we were completely drained and overwhelmed by the time we left. This was the first time anyone had confirmed their suspicion of Muscular Dystrophy. We were told that he definitely doesn’t have Duchenne (the most aggressive form) but most likely Becker MD. Another blood test and they will see us in September.
September 2012-Back to the clinic where the decision was made to have a muscle biopsy that should definitively give us a diagnosis.
October 2012-Muscle Biopsy. Our little super hero did great. He wore a Batman costume my co-worker gave me to cheer him up while recovering and being carried out of the hospital. Everyone was talking, smiling and waving to “Batman.” We had the Dr. take more muscle than needed in case the test wasn’t conclusive. Good thing we did…
November 2012-Muscle biopsy testing came back, consistent with Becker MD but not conclusive. Next step, histo stain of his muscle and genetic testing. While at work I received a call from one of the Doctors who proceeds to tell me like this ” Hi, this is Dr so and so and Peyton’s histo stain came back consistent with BMD. Any questions?” I was too stunned to speak.
December 2012- Call from clinic to come in and get his genetic testing results. I politely decline, tell them we are taking our son to Walt Disney World for Christmas and we can wait until January to hear the results. We are sure he has BMD so when we find out conclusively didn’t seem important. Surprising Peyton and his brothers with the trip they had been talking about for years did. Peyton watched documentaries on WDW, knew every ride like he’d been there 100 times and knew exactly what ride he would go on first. His smile on the Expedition Everest (or Yeti as he calls it) ride was all we needed to know we made the right decision.
January 2, 2013- HAPPY NEW YEAR! Not so much. We attend our appointment to get our final diagnosis which we already had come to terms with. As the resident is speaking to us he starts talking about Duchenne MD. Finally I stop him and ask him what he is talking about. He decided to actually bring our Dr. in who proceeds to tell us that the genetic testing is conclusive and he has Duchenne Muscular Dystrophy. That is when the floor came out from under us. I grill the Doctor about my rudimentary knowledge of MD which is that a shortened strand of dystrophin means BMD and no dystrophin is DMD yet Peyton seems to be producing some dystrophin. Yep…curious.
To break it all down after the LONG sequence of events-our beautiful middle child has been diagnosed with Duchenne Muscular Dystrophy. My sister’s reaction said it best. When I told her that they think he has DMD she told me, “I will call you right back. I need to hang up the phone and throw up.” Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness and there is no cure…yet! Good things are happening in the field which I will cover at another time.
So why am I writing about this now in such a public way? For several reasons. To raise awareness. I never know who may know someone who can help us, guide us, support us. We are his best advocate.
Also, I want to document this journey we are on. The good and the bad. We can’t hide from it but we can face it head on with faith, dignity, grace, laughter and love.
The good news is, he is very mild at this point as most kids are diagnosed by about 2. He never had any delay in speech or walking. We always say he started talking at a year and hasn’t stopped yet. Also, there is so much research around Duchenne that we hope someday there is a cure, or at least a significant slow down in the degeneration process leading to a longer and higher quality of life.
Everything and nothing has changed. We adore him and the family we have created and will take each day at a time.Peyton is still the happy, funny, charming, sweet, sensitive, loving, adorable, incredibly smart little guy we know and love. While we don’t hide anything from him, he doesn’t ask much and when he does we put it into words he understands like “your muscles are tired.” Logan understands a little more and is both his protective and annoying big brother.
We are not looking for sympathy. We are looking for strength, prayer, love and hope for his future.
We have received a tremendous outpouring of support already from family, friends and the clinic. We appreciate the love that surrounds us.
So next time you see that MDA Shamrock or boot, add some change and say a prayer for Peytie.