Tag Archives: cogenital disorder of glycosylation

The waiting

Minutes after our newest addition was born I held him in my arms and I started looking him over. I started searching for symptoms of the genetic condition our 4 year old has. I felt like I would just know if he was affected or not. As my husband looked at me and asked about his eyes, I said to him “he doesn’t have inverted nipples.” The nurses in the room were listening and looked at us a little peculiar. I’m sure they wondered why we were picking our beautiful boy apart looking for something “wrong” with him. I told them that we were looking for clues as to if our newest addition would be affected by congenital disorder of glycosylation. Once that was said they continued to do their jobs but the room was a little more quiet.

Days went by and our little guy was a wonderful eater and (in my eyes) so strong. I couldn’t believe how he could hold his tiny head up and push his legs against me while I was holding him. He had none of the physical symptoms his older brother has, but we know that not every child is the same and the spectrum of severity is huge. My heart said he was healthy but I didn’t dare say it out loud until the blood test was confirmed.

At 11 days old I took him in to the pediatrician for a terrible diaper rash, which turned out to be a staph infection. As I sat in the pediatricians office I did all I could not to lose it. I was immediately brought back to when our 4 year old had staph which ended with a long hospitalization and a picc line. No. This couldn’t be happening again. I kept silently praying, begging, while I held back the tears. The pediatrician sent photos to the NICU and every doctor in the office came to look at my sweet baby to give their expert opinion. IF he was affected by CDG this could get bad very fast so everyone was on edge. In this moment I waivered; was he healthy or was I just wishful thinking?

It was the longest wait; 3 weeks waiting for a phone call from the genetic counselor with his test results. 3 weeks of pushing back every vision of the future. 3 weeks of not allowing myself to wonder if I would ever hear him say “mom” or watching him take his first wobbly step. 3 weeks of shoving visions of him running around grandma’s pool with his brothers and cousins. 3 weeks of never dreaming.

The genetic counselor finally called. I immediately knew when I heard her voice. She had a lightness in her voice; happiness. She said “I’m calling with great news….” and I couldn’t stop the tears. She went on to say our son was a carrier and not affected for CDG. Words can’t even express the relief, joy, and weight that was lifted. For the last few weeks I felt like I was carrying so much worry and anxiety while pushing so many things aside.

And now I can dream all I want.

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On mandarin-orange chicken day

Our son recently started using a communication device, his “talker”, to communicate with us. As many of you know, he’s medically complex with special needs and he is nonverbal. He’s getting quite good at telling us he’s “all done” or if he wants “more” of an activity. We were with family the other day and we were using his talker;  I was asking him if he wanted more books. Upon asking him this and presenting him his communication device a family member said “how does he know what more means?”

I had to take a deep breath. I had to think of an appropriate response, to be honest, I was completely taken aback. This is someone who has known him since birth and sees him often but yet was questioning his intelligence. I simply responded “how does anyone know what more means? He has learned like any other child.”

I went home and was extremely hurt, angry, but more than that I was completely heartbroken. If a family member wonders about his abilities then how does the world see him? Does the world see him as less than? Does the world see him as unintelligent? Does the world view him as someone who doesn’t understand? And quite frankly, it frightens me. It worries me that he is growing up in a world that will underestimate him.

And as his mother, I feel as though it’s my job to prove to the world that he’s smart, capable, funny, charming, and even manipulative just as any other four year old can be. I take it upon myself to be armed with responses to questions regarding his abilities. I prepare myself for the worst in people. I am always standing tall ready to protect my son against any hurtful remark, question, or comment. I absorb them all and in the shower or a drive alone I release them. I cry for him. I cry for us. Tears roll down with worry that I will forever have to prove to the world what an amazing human being he is. And oh how I hope that the world will see him as we do. I desperately want him growing up in a world where differences are embraced and he’s not seen as less than.

The other day we decided to venture to the elementary school to have lunch with his first grade brother. I worry that our older son will be met with questions of why his brother is the way he is or something will be said in front of him to hurt his feelings. He fiercely loves his little brother and loves him unconditionally. We rolled into school, him in his wheelchair watching Daniel Tiger on his iPad, feeding bag hanging on the handle, and his bright green hearing aids in. My older son and his friends were thrilled to see us. We sat at the end of the table and chatted about the day so far. A little buddy made mention that our son can’t walk, and my older son matter of factly said “and he might not ever” as everyone took another bite of their lunch. That was it. End of conversation. I smiled. My heart brightened. He is their friend’s brother; that’s all they saw. Conversation moved on to Nerf guns and magic tricks. And as we were packing up to leave I heard one of my son’s first grade friends say to him “you’re lucky, you have a cool brother, he looks just like you.”

So when I worry about the world viewing our little boy as less than, I am shown that the few who will underestimate him do not make up the entire world. I can only hope that the world has more people like the first graders at the lunch table on mandarin-orange chicken day. Thank you to the parents of these lovely little boys for helping them to see the world with compassion and understanding that being different is ok.

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I think…

I would be lying if I said I wasn’t a little bit scared. A little bit nervous, okay, maybe a lot. To be honest, not thinking about it is easier than thinking about it. Isn’t that a strange way to talk about a pregnancy? Let me explain.

I know I have a beautiful wonderful child inside of me who is already loved beyond measure. I can feel his flutters and kicks; an amazing gift of the life I’m growing. I can see my belly growing and I lose count of the daily trips to use the restroom. He’s happy and thriving. Inside. But outside, that’s where my thoughts always drift to. So, sometimes it’s easier to just smile when he knocks from inside and not think any farther.

When I allow myself to think about his future, I can’t help but think of the “what-ifs.” We know the chances. We know the possibilities of our unborn baby boy being affected by congenital disorder of glycosylation, just like one of his brothers, is 33%. We know it’s not easy. We know the multiple hospitalizations, illnesses, worries, surgeries, specialist appointments, daily therapy tasks…we know it all. We know full well the amount of work and dedication it takes to raise a child with special needs.

It’s very strange carrying a child who could have a very difficult life.

I am doing my very best to not get caught up in scenarios that are possibilities, either way. I cannot bring myself to envision him crawling, talking, playing with his brothers. His first words. Saying “mama.” Tears stream down my face as I type those words. I just can’t. I am not going to pretend – I am not going to break my own heart. I have to try to protect myself from further heartache. Because if I don’t dream those dreams, maybe, just maybe, I can protect my heart a little.

Of course, we would love for him to be unaffected but there is a reality that he may not be. And that’s a reality we are ready to face.

I know we can handle anything that comes our way. After all, we are “experts” in CDG according to the genetic counselor I spoke to. If anyone is prepared, we are. We didn’t know if we could handle it 4 years ago, we were scared and nervous…but here we are…killing it.

But I still can’t think of that either. I can’t bring myself to relive the first two years of Christopher’s life. A night in the emergency department where we were told he was close to death, surgeries with complications of infections, numerous sleepless nights in the hospital, and having to let go of the dreams we once had for him. The grief that follows you; even when you are looking on the bright side. I can’t think further ahead, think about the possibilities of wheelchairs, gait trainers, therapy after therapy….the endless trek up the mountain.

I can’t think beyond now. Not beyond today. And that’s ok. I think. 😉

 

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Nowhere else

Our family went to a pool party a few weeks ago and on our way home I texted my girlfriend to let her know I wasn’t going to cry. I didn’t have the urge to take my son and leave. Oddly enough, I felt ok, not great, not sad, but just ok.

Our son is nonverbal, continuous tube fed, has severe hearing loss and wears aids, with very low muscle tone and cannot sit alone, stand, or walk.  He’s also stubborn, funny, very affectionate, and extremely charming. He loves kisses, books, and his iPad. And when he gets excited or is content he can be very vocal while flailing his arms and legs all over which can be confusing to people who don’t know him.

I can’t tell you how many times we go to an event and all I want to do is retreat to the safety of our home. Away from the stares, ignorant comments, and small twinges of sadness knocking on my heart waiting for me to release them all. I spend time looking at other children and wonder what life would be like if our child was typical. I watch kids his age run around while we lay on the ground together as a passerby asks how old he is, and then when I say “four” I watch their face change to pity. I watch their face drop as they have no idea what else to say to us.

Some days I just don’t want to do it. I don’t want to feel alone in a room full of people. Have you ever felt that way? There can be people all around me but yet I feel alone because the majority of everyone surrounding me simply doesn’t understand our life. They don’t know what it’s like to have a child with a complex medical condition with severe developmental disabilities. Our day to day life is anything but typical. So, I’ll be honest, sometimes it’s easier for me to just NOT participate.  I don’t want the whispers behind our back or the blatant stares. I don’t have to face any of that if we just stay home. But as I sat with our son enjoying the laughter at the pool while he happily watched his iPad in the breeze, something occurred to me.

There was no where else he would have rather been.

He kept looking up at me with his sparkling eyes as if to tell me he was enjoying himself and was thrilled to be there. His little legs were going crazy. He was happy. He had two of his favorite things; his mom and his iPad. And as much as I would have loved to be the mom in the pool with a glass of wine, I wasn’t. As much as I would give to have him jumping off of the side of the pool, he wasn’t. I would love to take this all away from him and make his life easier, but I can’t. I realized then that longing for the life I dreamed of is futile. My life is happening right now. Our lives are now.

Sitting there, I may have appeared alone, on the sidelines, but that’s not the truth. We were together.  We weren’t alone.

And at that moment, there was nowhere else I would have rather been.

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“As long as it’s healthy.”

*Disclaimer: I did not write this to get into any debates, so please refrain. This is my blog. My feelings. It’s okay if you feel otherwise. Please respect my feelings/opinions and I will return the favor.

In my pregnancy, you will never hear me say “as long as it’s healthy.”

Don’t get me wrong. We all want, wish, pray, and long for a perfectly healthy baby. But what if there wasn’t that guarantee? What if you knew there was a chance your child’s life could be a difficult one? What if you knew that chance was 33%?

According to the genetic counselors we have spoken to, our child has a 33% chance of being affected by congenital disorder of glycosylation.

No one knows the struggles more than we do. No one knows the numerous hospitalizations, appointments, and sleepless nights more than us. No one knows the hard work and determination more than us. It took our son over a year to roll and four years to sit up, and he still needs assistance to ensure he doesn’t fall over and injure himself. A common illness can put him into the hospital for over a week. His body is fragile and we know he isn’t guaranteed a long life. We are aware that our four year journey has been filled with grief and loneliness. Immediately when I found out I was expecting I spent days thinking whatarewegoingtodo? howarewegoingtodothis?? whatifwhatifwhatif?? Then I would look at our son and the only thought that came to mind was…

Your life is worth living.

HIS life is worth living.

Not only is he a child with extraordinary needs, he, himself, is an extraordinary child. His smile is more genuine than anyone I have ever come across. He loves with no expectations or strings attached. He trusts with all of his heart. He has brought us more joy than all of the grief, fear, anxiety, and loneliness combined. I wish every single person had the opportunity to peek over the railing and carry him from his crib in the morning. He wakes with unimaginable joy; thankful for another day. He. Never. Gives. Up. And we won’t either.

I won’t say “as long as it’s healthy.”

Because I know healthy isn’t a guarantee, and for us, it doesn’t change a thing. The genetic counselor reminded me that we are already experts. We know. We are not delusional about what we could be walking into. 33%. No matter what, we will fiercely love this child and I can guarantee you, 100%,  his/her life will be a life worth living.

 

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