…And then we discovered our son has a fatal genetic disease

Duchenne. The first time I ever heard the word was when Kat, sitting next to me on the couch, covered her mouth and gasped. “Oh no,” I thought. “It’s Friday night and I just want to watch this movie and relax,” but I sensed a storm coming. In my customarily end-of-the-day compassionate manner, I didn’t respond. She will likely say something before too long…

She didn’t, so I said, “What’s wrong?”

“What if Brendan has Muscular Dystrophy? He has all the signs for Duchenne.” There was horror in her voice.

I had never heard of this, and frankly, it’s one of those things that perhaps the mind is shielded from as long as possible. Why would I go out of my way to research a life-changing fatal disease, anyway? I had already arranged to meet with B’s physical therapist to talk over some exercises we could do at home as we were not satisfied with his progress with his gross motor skill development. I had to wait till Monday, so I figured I’d put off the worry until I had more information. A useful adaptive strategy at the time. Especially, as Kat had to leave for a weekend yoga retreat. I remember Saturday evening, when it was just me, phoning my dad after a bit of research, and saying that if he really did have this, it would feel like a death sentence. I don’t know what I would do… I wept then. He too considered it wise to wait and see what the professionals say.

Monday came around and Kat had already emailed her concerns to the physical therapist. As she and I talked, she noted that there were a number of red flags pointing to this and recommended we meet with the pediatrician soon. I scheduled a meeting on Friday. Again, postpone panic until I have more information.

When we met with the pediatrician, especially after letting him know of our concern about Duchenne (DMD), there was urgency in his voice. “I’m going to do a blood test tonight for you guys. We should do this right away.” So we did the blood draw and the did a CK (creatine kinase) test. The doctor told me he would call me tonight to let me know what the results were. The next few hours were agonizing. Of course, I did a quick google search to find out what a normal level was. 22 to 198 U/L (units per liter). When there is muscle damage, CK enzymes get into the blood stream, so with a disease like DMD there can be 10 to 20 times this amount. At about 5:00, the doctor called and said that they are having to dilute the sample and he will call me soon. At about 7:00 or so, he called and said that Brendan’s CK level was 26,000. The only word I had was, “WHAT?!?” “Yah… it looks like he has this,” the doctor said. “I’m so sorry. I will be on the phone with Children’s first thing Monday and see what the next steps will be.” Thankfully, the boys were in bed already, because I really couldn’t breathe. I immediately called my parents who were en route to the airport and not home. I asked them to call us when they got home.

Those two hours were torture. My life as I anticipated it was collapsing before me. All I could think of was that I would see my son die, that all that things I wanted to do together we were not going to be able to do, that our life was forever changed. And indeed it was. I kept saying to Kat, “I just wish my parents would get home. This is too much. What are we going to do?” When they did, we said, “Are you sitting down?” I wept, I couldn’t speak. “The results were not good,” I said finally. “He has it.” They said, “We’ll come first thing in the morning.” This was the first week.

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10 thoughts on “…And then we discovered our son has a fatal genetic disease”

  1. Nate, you always know I love you like a son and though my heart aches for you and Kat, you must treasure and enjoy every moment that you have had and WILL have with your precious son. Don’t look to any end, see the middle, like the dash between our birth and death, it is huge. In his life no matter the length, he will be such a joy and presence to everyone around him. Don’t be robbed by looking down the road at what you can’t really see. This is what it means to live in the moment, this one, the next one and so on. You will all learn so many things from this journey and grow stronger along the way. I am in no way down playing your situation, only trying to bring another perspective. You are all loved by me. I would hold you if I could. One of your many Mom’s, Jill

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  2. Nate ~ I am so sorry to hear this. I will pray for him and you and Kat and your other son Miracles do happen sometimes. Sending you Love and Hugs and Blessings. May you all find the strength you need,

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  3. Time: Can be broken down by decades, years, weeks, days, hours, minutes, seconds…………………. It is something we can not retain, buy or barter but it is something not to waste. This little boy, with so much to live for and so little time to do it in will bring you so much joy, pride and love. He is already so bright and conversational. He’s a joy to be around. All we can do is love him, hold him and spend the time we have making life very special for him. This is a parents worst nightmare for sure. Hold on for all you got and ask for help when you need it. We are here to help in anyway we can.

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    1. Thank you, Sean. Really, words are not needed. It is terribly brutal and painful and that doesn’t even come close to summing it up. Knowing that you are thinking of us helps.

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