Diagnosis

When Bryce was five months old we received his diagnosis. That day is easily the most difficult day of my life. Two months prior, his neurologist ordered a genetic test. It was BY FAR the easiest test Bryce was put through. We were sent home with a saliva collection kit. All we had to do was collect some of Bryce’s drool then put it in the mail.

Waiting for the results was agonizing! After all his other tests failed to find the cause of his seizures, we expected this one to be no different. At the same time, we hoped it would provide us with some much needed answers. Finally the call came to report the results were in. We scheduled the soonest appointment available, but it was still a month away. However, less than an hour later I received another call from the doctor’s office informing me that the neurologist wanted to see us the next day, if possible. My heart sank! I knew the results had to be terrible if the doctor felt we needed to be seen immediately. Unfortunately, I didn’t have enough time saved up to cover my shift at work (maternity leave used it all), so I needed an extra day to find someone to trade with.

Two days later we made the long trip to the doctor’s office. This was the hardest drive for us. Not only did we stop every 20 minutes to calm Bryce down (what should have been a three hour drive took us six), but we really didn’t know what to expect when we got there. We felt it wouldn’t be good, so we spent the drive trying to prepare ourselves for something terrible.

Once we arrived, it didn’t take the neurologist long to meet with us. He walked into the room, closed the door and pulled a chair over so he could sit directly in front of us. One thing I like about him is that he doesn’t try to sugar-coat things, he tells us exactly how it is. “There’s no easy way to say this, but your son has a VERY RARE genetic disorder called Early Infantile Epileptic Encephalopathy type 4” (EIEE 4). He then translated this for us. Bryce has a random mutation in his STXBP1 gene that caused the disorder. He also explained just how rare EIEE 4 is. In the past five years there have only been 20 other cases, and Bryce is the ONLY ONE with it in the Western U.S. Because it is so rare, not a lot is known about it.

Then the doctor dropped the bomb. “It is TERMINAL. It WILL take your child’s life.” Those words tore through me, ripped my heart out and crushed my soul. I couldn’t breathe, I couldn’t think. My vision started fading, the room began spinning and I couldn’t stop it. The words from the blessing Jus gave me almost a year before ran through my mind “You will cherish the time you have with your child, however short it may be” (you can read that story here).

We both unsuccessfully fought back our tears, trying to stay in the moment to learn all we could, trying to stay strong for each other. Somehow I managed to find my voice and asked “How long?” How long do we have with our beautiful boy? How long do we get to be parents to such a perfect soul? How much time do we have to hold him, to kiss his chubby cheeks? How much time do we get until we have to say goodbye?

“Honestly, I don’t know. You could have him for a couple more weeks. You could have him for 15 years.” Then our doctor did something that I will always be grateful for, he left the room to give us time to be together. We held each other and sobbed. We let our hearts break together. We kissed Bryce over and over again, telling him how much we loved him, that we will ALWAYS love him. We prayed for comfort and strength. We thanked our Heavenly Father for trusting us enough to love and care for such a beautiful spirit. I don’t know how long we sat embracing each other, but we knew we had to collect ourselves as best we could. We hadn’t finished talking to our doctor, and we knew we needed to.

When we felt like we could, Justin informed the nurse we were ready to finish meeting with our doctor. A few minutes later, he came back in and our discussion continued. First, we wanted to know how Bryce would likely leave us. The most common cause of death for children with EIEE 4 is aspiration, pneumonia or any illness that his body might not be strong enough to fight off. With all the seizures he has, his body isn’t as strong as other’s, so he has a harder time fighting off illnesses.

We also wanted to know what his life might be like. First, he will always have uncontrollable seizures. We know there are some medications and other types of treatment that may help more than others, but nothing to make him seizure free. Then our doctor told us, “Bryce will never be able to walk. He will likely never be able to talk”. Another HUGE blow. I didn’t think my heart could break any more than it already had, but I was wrong. Knowing that I would most likely never see my baby take his first step, or hear his sweet little voice call me “momma” sent more tears trickling down my face. I never realized what a miracle those simple things are until they were taken away.

Then our doctor gave us some advice. First, he told us not to ask “Why?” Honestly, how can you not? Why is this happening? Why Bryce? Why us? After all, this kind of thing only happens to other people, right? He also told us not to compare Bryce to other children. Again, how can you not? How can you see other babies and not think “look at how much more that baby can do than Bryce”? Or, “Would Bryce be able to do that now if he were normal?” How do you not feel a stab of pain when you see younger babies doing more than Bryce? How do you not feel grief when you see a child doing something you know yours will never be able to do? Then, how do you not feel guilty for comparing Bryce to others? It is IMPOSSIBLE NOT to compare.

I have grown a lot since then. Each day it gets a little easier to not compare Bryce to others. I don’t often feel sad about the things Bryce can’t do. It has been replaced with excitement for the little things he can do, like holding on to a toy for more than a few seconds, or tracking lights with his eyes. Things that most may not even notice are the things we cherish.  Each of Bryce’s little accomplishments are HUGE victories for us.

I have also stopped asking why. I finally realized that it doesn’t matter why Bryce has what he does. All that matters is we love him with all our hearts. We would do anything for him. I believe that Bryce has already perfectly passed his test of life, but he loved Justin and I so much that he decided to help us pass ours.

Finally, I want to thank everyone who has been there for us. Everything you have done for our family, your thoughts, prayers, generosity and kindness toward us has helped us get through one of the most difficult times of our lives! Because of you, we were able to stay strong and find happiness. Because of you, we were able to find the light in our darkest hour. Without you, we wouldn’t have made it as far as we have. Even now, we can still feel the love you have shown us, and it keeps us going. Thank you!