‘The neurologist called. ‘I’m 90% sure your son has Congenital Disorder of Glycosylation. Do not google it.’: Special needs mom urges, ‘Life can be beautiful, even when it doesn’t go as planned’

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“When we found out we were pregnant with our second little boy, we were thrilled. I could envision our little boys running around the yard and jumping through the sprinkler together. They would be 3 years apart and best friends. The entire family couldn’t wait. Our oldest son was 2 and my bonus son was 15, and as much as they got along, they weren’t exactly playmates. I’m extremely close to my siblings and was looking forward to our boys having the same experience as me.

Courtesy of Melissa Schlemmer

My pregnancy wasn’t all that exciting. Which, in pregnancy is always a good sign. I did have a lot of preterm labor contractions towards the end and was instructed to go on modified bedrest. I did this and all was good. I rested as often as I could and counted the kicks. And on April 20, 2013, after an epidural and one push, our Christopher was born. He passed his hearing tests and had a good Apgar score. We had no reason to believe life would drastically change in a couple of months.

Over time, I started to wonder if something wasn’t quite right with Christopher. He wasn’t gaining weight, he was very weak, and his eyes crossed sometimes. I recall going to the pediatrician week after week and expressing my concerns. You see, my first son was always in the 97 percentile for height and weight, and Christopher was barely even on the chart. I was always met with, ‘Every child develops at their own rate.’ And to a degree, I understood this, but with Christopher my gut was screaming at me – it was more than that.

We were struggling to get enough food in him, we were told he needed more protein, so we added chicken puree to his breastmilk (yuck, I know), and I weighed him religiously. I was handing him off to my mom every day and heading to work, praying he would eat more than a few ounces that day. We logged his food intake and used syringes – squirting little by little in his mouth. It was a nightmare. I took him to feeding clinics and lactation consultants, and because he was gaining at his own rate, we just kept our course.

But at 5 months old, he still wasn’t holding his head up, and barely moving. We could set him on the floor on his back and he wouldn’t move. He wouldn’t even reach his arms to bat at any toys. He was tiny with very low muscle tone. Because he was severely ‘failure to thrive’ and not growing, we made an appointment to see an endocrinologist as well as a neurologist. The endocrinologist ordered an MRI of his pituitary gland to ensure there wasn’t something going on there. And after one appointment with the neurologist and the concern on her face paired with her words of, ‘I’m extremely worried about your son,’ we went ahead and did the sedated MRI.

Courtesy of Melissa Schlemmer

You might wonder why it took months and months, and to be honest, looking back I wonder this too. But although I knew something wasn’t right, I also had a small part of me that wanted to deny this. I wanted to believe one day everything would be ok because I was being reassured every time we went into the pediatrician. I was hearing things like, ‘Sometimes babies’ eyes cross every now and again…maybe he’s just small….he’ll grow at his own rate…etc.’ My heart wanted so badly to believe those encouraging words.

I prayed. I prayed so hard for his brain to be ok. In my mind, I thought as long as his brain was fine, we’d be fine. Just not his brain, just not his brain. Ten minutes after we got home from his MRI, I was sitting on the stool at my mom’s house and received a phone call from the neurologist. The call that would change our lives forever. She told us Christopher’s cerebellum was significantly smaller than it should be, and paired with some of the other markers he has (inverted nipples, uneven distribution of fat, dimpled skin, and more), she was 90% sure he had Congenital Disorder of Glycosylation. A metabolic disorder that affects nearly every body system. She urged me not to google it. And to be honest, I couldn’t recall the word glycosylation as I felt my world falling apart. She asked us to come to her office the next day so we could discuss his (potential) diagnosis and what this meant for him.

We parked in one of the last spots of the parking garage and walked into the clinic. I have never felt the ‘flight’ instinct as powerfully as I did at this moment. I wanted to run. I wanted to take Christopher and run away. I had no idea what I would do, but I just didn’t want to hear or believe any of this. How was this happening? I was happy for answers, they just weren’t the answers I wanted to hear.

After the confirmation of labs, Christopher was diagnosed with PMM2 Congenital Disorder of Glycosylation. His body has problems with the process of glycosylation, and since every part of the body requires glycosylation to work properly, he’s affected in many ways. Like many disorders, the range of severity is vast. It was hard for her to predict what his life would be like. She told us to allow him to tell his own story, but we knew the likelihood of a feeding tube, seizures, a wheelchair, more therapies, and many more specialists would be added to his life.

Courtesy of Melissa Schlemmer

I walked out of the office and instead of ‘flight,’ I wanted to fight. I wanted to fight for him. I wanted to fight for him to be the best he could be, whatever it meant. That doesn’t mean I didn’t mourn the loss of the life we planned for him. I did. I cried. I would see other children his age who were light years ahead of him and I would envision Christopher doing those things and tears would prick the corners of my eyes. I would hide in the shower while hot tears streamed down my face after someone asked me if he was walking yet. I stopped working outside of the home to care for him full-time and bring him to his many specialists and therapy appointments. Every illness would bring anxiety and fear. Illness and fevers can be extremely concerning for many individuals with CDG. Almost every cold and flu season, Christopher is hospitalized for a week or two; things can spiral downward and get real scary real fast for kids like him.

Courtesy of Melissa Schlemmer

Our perspective on life changed quickly after learning his diagnosis. The things we thought were important were no longer even close to the top of the list. When you have a medically fragile child who can’t walk or talk…life looks a lot different. I remember a friend telling me, ‘You can either be bitter or better.’ We chose better. I changed my mindset to, ‘Why not us’ instead of, ‘Why us?’ And gratitude. I can honestly say I didn’t even know what gratitude was until he came along. All of the things I took for granted with our first son. All of the milestones. All of the things kids just do. Using their pointer finger, holding a toy, cooing, saying mama, sitting on their own, and saying, ‘I love you.’ All of it. I will never, ever take any of it for granted again. Because I know life doesn’t always go as planned.

Christopher is 7 years old and cannot sit on his own without falling over. He can’t walk and uses a wheelchair. He hasn’t had food orally for over 5 years, and is fed with a GJ tube. He has never told me he loves me, or said a single word. He has hearing loss and a vision disorder – both have been progressive, but we hope they plateau at some point. His cerebellum has continued to atrophy over the years. We have had to call 911 a few times for life threatening seizures, and last January he was in the ICU for weeks with a virus.

Courtesy of Melissa Schlemmer

But Christopher is also 7 with the cheekiest little personality. He uses a communication device and can tell me what fruit Pete the Cat is about to step in before he even sees the page. He knows his alphabet and all of his colors and shapes. With a grin on his face, he uses his device and tells his therapist ‘good-bye’ before we even start the session. He loves to read books and will let you read to him all day long if you could. His giggle would turn anyone’s frown upside down. He has to work harder than anyone to achieve small accomplishments, and he does this day after day, month after month, year after year. And going to his room every morning to lift him out of bed and carry him downstairs is one of the greatest gifts of my life. When he smiles at me and puts his little arm around my neck, I think to myself, ‘This, this is what matters.’ He is the greatest gift.

Courtesy of Melissa Schlemmer
Courtesy of Melissa Schlemmer

Now I’d be lying if I told you I still never grieved the life we planned for him. There are days I wonder what life would be like without CDG. A life without as much worry and anxiety. A life without therapists, specialists, and hospital stays. I still have days where I dig myself a hole and feel all the feelings. Something small might bring big tears. Something so many others take for granted, like having a friend or writing his name. Caring for a child with extraordinary needs is exhausting and lonely. He’s a full-time job and then some. Some mornings I’m tired before my feet even hit the floor.

But without him, I wouldn’t know pure joy. I wouldn’t know real gratitude. I have far more patience and acceptance. And I know I would be taking for granted far too many things to list. I have the most genuine and loving best friends because of him. I’m part of a whole new world with the most beautiful children and families. I have learned life can be beautiful, even when it doesn’t go as planned. And if you are in the middle of finding a diagnosis or received a life-altering diagnosis, I want you to know your world may feel like it’s falling apart…but hold on…because it might just be falling into place.

And I have learned that even without words, his story is going to be a beautiful one.”

Courtesy of Melissa Schlemmer

This story was submitted to Love What Matters by Melissa Schlemmer of Forest Lake, Minnesota. You can follow their journey on Facebook and Instagram. Submit your own story hereand be sure to subscribe to our free email newsletter for our best stories, and YouTube  for our best videos.

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