One of the many questions I’ve been asked by friends and family is: What alerted me to there being something wrong with Chase? What symptoms did I notice that led me to taking him to the doctor? I feel a little bad for the person who asks me this question because it is not a simple story, which then leads me to go on and on about everything from Chase’s birth to now. I know a lot of people are also concerned for their own children and are wondering if there are signs and symptoms they need to be on the lookout for. I totally understand that. From the time we find out we are pregnant, one of a mom’s biggest fears throughout her pregnancy, no matter how many ultrasounds she may have, is that there might be something wrong with her child. Her heart hurts at the mere thought. I believe very strongly in a woman’s motherly intuition, and let me tell you, I just knew. I knew during Chase’s pregnancy that there was something wrong with me at the beginning of my second trimester (another long story I will save for another post). Chase ended up being delivered by emergency C-Section at 28 1/2 weeks. Mothers know.

I start with the story of his premature birth, because every struggle he has ever experienced since his birth, has always just been attributed to his prematurity. Due to his prematurity, Chase has always been just a little bit developmentally delayed. He didn’t crawl until he was 15 months, and he didn’t walk until he was 18 months. From day one he was our little miracle, besides having asthma and being a little behind on his milestones, my little man was completely healthy. He had a physical therapist from about 13 months until 3 years old come to the house weekly to help him reach some of his developmental milestones, and I remember having a conversation with her when he was about 2 years old that I noticed sometimes after walking for a little while, he would start walking with one of his legs completely straight, kind of like a peg-leg. It wasn’t all the time, and he was really too young to say anything about it, but I remember this conversation vividly and her saying something like, “Hmm, that’s strange. We’ll keep an eye on that.” It never happened when she was around so it was hard for her to get a real picture of what I was describing. I brought it up to his pediatrician, and I got a similar response, “let’s keep an eye on that.” He went ahead and ordered x-rays just to make sure there wasn’t something there, and nothing came up in the x-rays. Again, it was very hard to explain, he was an active little boy who didn’t seem to have any other problems, just after playing or walking for awhile he would walk kind of funny. He would run around a playground just fine, like any other healthy young boy, but when it came time to walk to the car he would start walking with that straight leg and crying until I picked him up. I honestly couldn’t tell at times if his leg really hurt, or if he just didn’t want to leave the park.

It started occurring a little more frequently, and as he got older he started being able to tell me his legs hurt, or that he “had a cramp.” I also started becoming more and more concerned with some continued weakness he had in some areas. His teacher at the Early Childhood Center mentioned that he had some difficulty with his handwriting and that his hands appeared to be a little weak. At 5 years old he still could not peddle a bicycle without a lot of help from me or his dad. He still seemed to be a step behind his peers and I was beginning to get concerned about him starting kindergarten and being able to keep up. I brought this up to his pediatrician and he referred us to Children’s Mercy for some Occupational Therapy.  The OT took him through some assessments and did feel like he had some weaknesses in some of his gross motor and fine motor skills and we started weekly sessions.

In one of our sessions, he started to limp. Finally, I had someone in the medical community to witness what I had been talking about for the past 3 years. His whole demeanor changed with the therapist, my usually super happy and cooperative little boy became very sullen and complained that his legs and his hands hurt. The OT became very concerned and said she has had a lot of children in sessions fake ‘ailments’ to get out of exercises, but she felt very strongly that he was not faking and something was wrong because, (and I remember these words so vividly) “children should not be in pain like this.” She said she worked closely with the head of Rehab (Dr. Rinaldi) who was a Muscle and Nerve specialist at Children’s Mercy and she would talk to him about Chase next time she saw him. The following week she had a list of labs Dr. Rinaldi had recommended I ask his pediatrician to run, and he wanted me to make an appointment for Chase with him at the Muscle and Nerve Clinic as soon as I got home. We got the labs drawn, he did amazing by the way. They had to draw 5 vials of blood and he didn’t cry one bit….Anyways, we got an appointment with Dr. Rinaldi at Children’s Mercy about a month later and we were told he would go over the results with us at that appointment.

I have to be honest, even though I say I knew there was something going on in his little body for a long time, that doesn’t mean I didn’t have a little “mommy denial”. I honestly sat in that appointment in December expecting them to tell me he is a little dehydrated and if I did a better job pushing the liquids, he wouldn’t have any issues. I never ever expected him to tell me that some of his labs came back abnormal, that his CK serum was in the 3,000’s (normal is something like 100-300) and that these labs indicate that he is experiencing muscle breakdown/deterioration. The rest of the appointment was kind of fuzzy. I remember him saying there would be a lot of tests run to try to narrow down what was going on in his body causing the breakdown, that there were hundreds of muscle and neurological diseases it could be, that some of the tests would be invasive but they would do their best to keep him comfortable, and that we were looking at some sort of Metabolic Myopothy or Mytonia. The crazy thing about all of this was, the doctor reassured me that it had nothing to do with him being born prematurely. It was just some fluke occurrence in his DNA that would have happened regardless. The big question was: Is this something that will be progressive and continue to get worse, or will it stay the same and his symptoms now are as bad as they will ever be?

Following this appointment, Chase had an EMG, we met with Genetics and received some genetic counseling, and we did more blood tests. As long as there was a promise of a stop at Vintage Stock and some icecream, Chase was truly up for anything. Due to his symptoms and preliminary blood work, the Geneticist and Dr. Rinaldi felt very strongly that Chase had a glycogen storage disease called McArdle’s Disease, but it sounded like they had to jump through some hoops first as far as the clinic and insurance goes, before they could do the “very expensive tests” in order to narrow it down to this McArdle’s Disease. They had to run a DNA panel first to rule out the “worst case scenario” progressive diseases such as Duchenne/Becker’s or Pompe Disease. They kept reassuring me that they did NOT feel like it was Duchenne/Becker’s, that they only wanted to rule this out because of these diseases being primarily found in boys, and well, he is a boy. Upon examining him, they did not feel like what he had was progressive.

My husband and I resigned ourselves to the fact that this was going to be a long, drawn out process of eliminating possibilities before we could move on to what actually was going on with our little boy. It did allow us to start to wrap our brains around all the possibilities as well, but we tried really hard not to think about worst case scenario possibilities. About 6 weeks after our meeting and blood-work, I got the call from our genetic counselor while I was on my way to my husband’s office to do some work. Yes, I answered my phone while driving (a big no no), but I saw Children’s Mercy’s number on my phone, and I had been waiting 6 weeks for this! What I got from that phone call was not what I expected though. Actually, the genetic counselor and Dr. Rinaldi did not expect to have to make this phone call. She told me that, to everyone’s surprise, Chase had the deletion on his DNA that was indicative of Duchenne/Becker’s Muscular Dystrophy. More exact, he was missing exon 45-52 on his DNA strand (if anyone is really into genetics and wants to look this up). She went into a lot more DNA jargon that I did not understand and could not process at that moment, in my car, on the way to my husband’s office. She did say that due to how good he looked right now, and since currently his symptoms only present themselves with excursion, that they were definitely leaning towards the Becker’s side of the diagnosis. I felt relieved that they were pretty certain it was not Duchenne, but at that moment wrapping my brain around the idea that my son’s condition was, in fact, going to get worse, when all this time my husband and I, and the doctors, all felt pretty confident that, at the very worst, he would stay the same…….there are no words to describe the heaviness I felt in my heart starting to grow in that moment. Following this conversation, and after breaking the news to my husband and the rest of the family, began the road of scheduling what would become our usual set of appointments at Children’s Mercy with the Muscle and Nerve doctor, Genetics, Physical Therapy, Occupational Therapy, Social Work, Nutrition, Pulmonology, and Cardiology and gathering as much information as possible to help our son.