‘He has what? Will he walk? Talk?’ I mourned the life we were supposed to have.’: Mom gave up on ‘life she imagined’ as son battles undiagnosed genetic disorder, eye condition

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“When my son was around 8 months old our family started noticing his eyes made clicking movements when we rocked him. I hadn’t really noticed myself, but I said I would mention it to his pediatrician. He also started bobbing his head up and down on occasion. Unconcerned, I sent a text to our pediatrician and he said, ‘this looks like he had nystagmus (shifting of the eyes), have you noticed anything else strange about him?’ I said, ‘well now that you say that, he’s not sitting or rolling very much.’ I was used to later development because of his older brother so I didn’t think much of it. His older brother who crawled at 14 months and walked at 20 months was sitting unassisted by 8 months old. Our doctor referred us to a neurologist so we could see if there was anything else going on. I was so worried. I didn’t know what the future would hold. Google was not my friend.

Courtesy of Jenna Gines

This started the whole process of diagnosis. We made appointments with the neurologist to get bloodwork. We made appointments to get an EEG, MRI and more bloodwork. We also made an appointment with an eye doctor. Everything was a waiting game. Luckily, we could lean on each other. After many doctor appointments, bloodwork after bloodwork, we received the diagnosis, Congenital Disorder of Glycosylation, for our sweet boy in October of 2016.

I knew something was going on as soon as he entered the room. The doctor said, ‘We think Jackson has Congenital Disorder of Glycosylation.’ ‘Wait, what? He has what? Will he walk? Will he talk?’, are some of the questions I asked the neurologist as the emotions overcame me. It’s so rare she didn’t even know what to tell me. She said, ‘the more severe cases pass away by the age of one,’ and gave me a few websites to learn more. “What??? Pass away? Not my child.’ I was devastated I wasn’t going to have the life I imagined. I started researching like crazy. I read everything I could and started reaching out to those I knew who had children with a disability or a rare diagnosis. It brought me so much comfort to connect with others who completely understood what I was experiencing. My family and friends were very supportive through the whole thing. They were there for me when I cried, when I screamed, and when I just needed to talk.

Courtesy of Jenna Gines

Since then we have worked with genetic doctors, had more blood work, and done all the genetic tests to find the gene associated with this genetic disorder. Unfortunately, they never found that gene. So technically our sweet boy is still undiagnosed. We don’t know what he has or why his body works differently than ours. We just have to deal with it.

I mourned the little boy I thought I had and the life we were going to have. I was so excited to have my boys 17 months apart. I was so ready for them to grow up together, play sports together, and go through life together. I was thrilled for them to become best friends. It all changed on that day. I hoped they would still go through life together and become best friends, it was just going to be different than the life I had imagined. I had to mourn that loss before I moved forward. And once I did, I allowed the blessings to roll in.

Courtesy of Jenna Gines

Lincoln is such a good big brother. He can be very sweet with Jackson, but they also have their typical sibling moments. Jackson sat unassisted and started army crawling at 2.5 years old. He’s starting to crawl on his hands and knees and walk with assistance at 3.5 years old. We give him all the help he needs. We’re hopeful that he’ll learn how to walk independently one day but we don’t know what his development will be like. So far, he’s followed the typical development pattern, just on his own timeline. So, we have hope. We always have hope.

Courtesy of Jenna Gines

The hardest part is actually when people feel sorry for me. I say ‘You don’t have to be sorry! We love and adore our son and couldn’t be more grateful for him.’ The hardest part is when he can’t play with his brother or sister like he wants or when he isn’t included. Sometimes we go to a park and there’s nothing he can do. It’s not hard because he uses a wheelchair, it’s hard because the park doesn’t include him. We need to find inclusion for more kids with disabilities.

Courtesy of Jenna Gines

My advice to anyone that receives a diagnosis is to mourn the baby you thought you had, mourn the life you thought you might have and then move forward. There is such power in accepting this new life. He/she is still your baby. Your kid is still amazing and will do amazing things, if you let him. You can be their biggest advocate and cheerleader. You will learn and grow in ways you wouldn’t have. You will meet people you never would have met. Welcome to this new life! It isn’t the life you imagined. It’s different but different is okay.”

Courtesy of Jenna Gines

This story was submitted to Love What Matters by Jenna Gines. You can follow her journey on Instagram and Youtube. Submit your own story here and be sure to subscribe to our YouTube channel for podcasts to video shows, parenting resources and happy tears! 

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