I feel like I am drowning…

Early last fall I started to have some concerns regarding Connor’s gross motor skills. We know he has a fine motor delay but it was becoming more obvious to me how far behind his peers he is with his gross motor skills. He falls a lot, he still can’t jump with both feet leaving the ground, he doesn’t run as well, he struggles getting started pedaling his bike and is much more cautious on the playground. He gets tired easily after walking short distances and always asks for me to hold him. Late November Connor’s teacher mentioned to me that he was falling a lot and she noticed he doesn’t put his hands out to catch himself. I told her my concerns and asked her to have the school physical therapist look at him. December 1st the physical therapist suggested having him evaluated at an outpatient therapy clinic. The moment she confirmed that what I was seeing in my son was concerning, I immediately felt like Connor has something more than just needing a little physical therapy. I kept this to myself for fear that (again) people would tell me “it’s a phase” “he’s just clumsy” “he’ll grow out of it”. I didn’t even tell Abe my fears.

December 4th: I didn’t tell anyone I was going but I took Connor to see his pediatrician to discuss my concerns. I was praying that she would just suggest physical therapy to help him catch up to his peers. She spent a couple minutes listening to my concerns while very casually talking with Connor and taking notes. Then she started her physical exam of Connor. She checked his ability to track an object just using his eyes. He thought this was funny and had trouble following her directions. The next step was to check his reflexes. After hitting his knees a few times she stopped talking with Connor and was very quiet. After repeating the tapping several times on his knees, elbows, and ankles she let out a sigh and said we needed to see a neurologist. Connor did not have a reflex response to the tapping. What?! Could I be right? This is something that physical therapy wont help?

That afternoon I told Abe about the appointment. He checked Connor’s response to the reflex test (I’m sure that has a name but I don’t know what it is) and also noticed no response. Abe agreed that he needed to see a neurologist. I still kept my fear to myself and would wait to hear what the neurologist would say. I called that evening at got an appointment for December 12.

December 12: My friend Erin and I took Connor to the neurologist. We met with the NP who Abe and I used to work with at the hospital. It was kinda comforting to have someone I know checking out my son.  This appointment is a blur to me. I remember only bits and pieces. What I do remember is the heavy feeling in the room after the NP and the doctor spent what felt like 30 minutes trying to get a response to the reflex test, the feeling of being punched in the stomach when the neurologist mentioned Connor’s big calves (a sign of certain neuromuscular disorders), and the long list of tests that needed to be ordered. I remember when the NP said “Something is wrong. We just don’t know what to call it yet” and the silence from the doctor when I asked if my son has muscular dystrophy. I am right. This is not something physical therapy will help.

The next couple weeks were really painful, confusing, and just sad. Abe has decided to take the approach of not dwelling on this (or even talking about it and possibly not even thinking about it) until something is in clear writing. He still doesn’t believe something is wrong. That’s fine and at times I wish I could take the same approach. It would definitely decrease the amount of pain I experience daily as I wonder what is going on with my perfect baby boy.

We decide to wait until January to start any of the testing. (thank you stupid, expensive insurance)

January 6th: I took my sweet baby to the lab for them to draw blood and get a urine sample. I felt so sick in the waiting room and just wanted to run. This isn’t fair. Why do we have to be going down this road with my son. He’s only 4. He shouldn’t be worried about lab draws and doctor appointments and specialists.

When they finally called us back I pulled myself together and wiped away my tears. I needed to be brave for my son.

Connor quickly introduced himself and his brother to the techs and stole their hearts immediately with his sweet personality. He sat on my lap and patiently let them clean his arm where they would put the needle to draw blood. He asked me several times why they were doing this and I just couldn’t answer him. I didn’t know what to say. They inserted the needled and he sat perfectly still. He was so BRAVE! I couldn’t believe it. Before we knew it, they were done collecting the blood they needed and we were on our way. I called Abe right away to tell him how great our boy did at the lab! On the drive home, that same “punched in the gut” feeling came back when I realized we are just weeks away from possibly finding out what’s going on with our son.

January 9th: I get a call at 9am from Connor’s neurologist. The moment I see who’s calling I get nauseous. I answer and the MA says “Hi. Dr. Zack wants you to know Connor’s labs came back normal.” WHAT?! Normal?! Thank you God!!! I called Abe, my mom, and sent out a mass text to the few people who knew we were waiting on the results. This was amazing news.

We scheduled the other tests Dr. Zach ordered, the MRI and an EMG. These will be done under anesthesia at Phoenix Children’s Hospital on February 4th. Since the labs were normal, I decided to give myself a break from the worrying and just enjoy a few weeks with my son before these tests.

January 20th: I notice a voice mail from his neurologist. Instant nausea and fear set in. The NP wants to go over the lab results with me. “What could they want? His labs were normal. Why did they need to speak to me?” I call back and get put right through to Melanie (the NP). She tells me there was a misunderstanding at the time of the first phone call and not all of the labs are normal. The CPK (which if high is a sign of Duchenne MD) was the only one in at the time on the first phone call, and that one is negative. Phew. Ok. That is such great news. But his urine was abnormal and needs to be retested. Also, the genetic test they did shows an abnormality. She tells me this is not critical but does suggest we schedule an appointment with the genetic counselor. We scheduled that for next friday January 30th. So, the results from the blood work shows that we cannot completely rule out muscular dystrophy (except for Duchenne MD) or any other neuromuscular disorder and confirms that we need to move ahead with more testing, starting with the MRI and EMG that will take place in February.

I don’t want to hurt any family or friends by not delivering this news in person or over the phone, but I just can’t.

If you are wondering, I am not doing well. My heart is broken for my son. I am angry that he has to go through all of this testing. I am angry that it is such a long process to find out exactly what is going on. I am loosing my ability to let insensitive comments from friends and family roll of my back. I feel like I am drowning in the amount of appointments I have to juggle, the amount of new information to keep straight, tests being ordered, doctors, and everything else this new path has given me. I am struggling to keep up with being a mom, wife, student, family member, and friend. I am constantly thinking about what’s coming up next and what the test results will mean. I am attempting to manage all of this on my own (physically) and it is becoming close to unbearable. All day long I am talking to God asking Him to help me through this, asking Him to help me take on more when I just don’t think I can but have no choice. I am constantly thanking God for my sweet boys and for allowing me to be their mom. I don’t know why this is Connor’s journey and I am not angry at God for this. I am thankful that He is there through this, and always.

But Connor, he is doing great. He obviously has gross motor issues and something is going on, but he is my sweet, aggressive, anxious, funny, loving, caring boy who loves to play with Batman toys and watch movies. He gives me the best hugs when I really, really need it.