What I Never Expected.

Everyone enters motherhood with an idealization of the perfect child; to be memorable, to be extraordinary, to change the world. From the minute you find out you’re expecting, to holding that precious life in your hands for the first time, everything about life changes. Your hopes, dreams, and aspirations transform before your eyes. What no one tells you is sometimes life isn’t that simple and that couldn’t be truer. Every day I wish for my child to be like the rest: typical and nothing more. But sometimes life is just not what you expected.

In the moments before entering motherhood, we hold these images in our minds of what having a child means. We spend countless hours researching and learning anything and everything to ensure we have all the correct tools in our belt. From diaper brands to cribs, and wipes to strollers nothing will get in the way of securing the perfect sanctuary. The realities of this newfound life are like a foreign home which you have become familiarized with, but once you finally move in, reality kicks in, and life is vastly different than you ever imagined. You will find yourself rising to every occasion. You begin to adjust to the customs, and the language and before you know it, you wouldn’t want life to be any different. But what happens when the unimaginable occurs. When your child isn’t what you expected. No amount of reading or planning could prepare you for the runaway train barreling towards you.

October 2020 is the month that has burned a hole through my core. That freight train hit me head-on and sent my world spiraling into the vast unknown. My little boy, my perfect baby was not thriving as expected. As questions and fears flooded my head I felt as if I was drowning, and I was watching my lifeline sink into the abyss. Time ceased to exist. Hours, days, and weeks went by as I watched the world continue to spin around me while I was stuck standing still. Doctor after doctor, therapy after therapy, slowly but surely, we were getting closer to having answers we so desperately needed. I was being thrown in every which direction, barely staying afloat on what seemed like an inevitable sinking ship. Every day seemed like a living hell. My life was on autopilot. Every therapist, and every doctor gave their opinion on what could be wrong with my son. Things started to become more real, denial slowly fading out of sight, and that glimmer of hope I had that all would be fine vanished before my eyes.

Then came the call. The call that I both feared and desperately craved to receive. We were finally about to get some answers to determine my son’s fate. Sweat poured down me like a raging river and anxiety overcame me sending chills down my spine. The next few words spoken broke me. All the time in the world couldn’t have prepared me for this day. I was told my son had a very rare genetic disease and that there were less than 100 known cases in the world. As all the medical literature was being read to me, I felt like time had completely stopped and I was frozen. I convinced myself I was ready to hear it, ready to face this head-on and beat it and I couldn’t have been more wrong. I wasn’t ready, not one bit, but then again is one ever truly ready to hear the cold hard truth that there is something wrong with the precious life you have created. I wanted to scream, cry, shut out the world and blame anyone I could to justify why this happened to me. I dove headfirst into his diagnosis, determined to find anything and everything I could to help him succeed. Talked to every doctor, every specialist only to find no one had even heard of his diagnosis. I felt more alone at that moment than I ever have before. Being told that no one could tell me what life would look like for my son crushed me like the weight of a thousand stones piled on top of me.

A rare disease is defined as a disease that affects less than 200,000 people worldwide. In our case, it was less than 100. We were told Colton had a disease called HIVEP2 and that there wasn’t much known about it. I instantly began researching, looking for all information, support groups ext. This disease was not going to define my son. HIVEP2 is a rare neurodevelopmental condition caused by mutations in the HIVEP2 gene. This gene is like the conductor of the brain. It sends signals to other genes in the brain that are responsible for brain growth and development. It is categorized by moderate to severe developmental delay, intellectual disability, and mild physical abnormalities. Many early symptoms include weak muscle tone and delayed development of motor skills. It is associated with low muscle tone, difficulty walking, and chronic fatigue. It has been known as well to cause seizures, eye disorders, chronic sickness, and GI problems. Delayed or absent speech, autism, difficulty feeding, and behavioral challenges. To say this has been an easy journey would be nothing short of a lie. This has been the most challenging experience I have ever endured. Colton has risen to every occasion and has overcome so many things we feared he never would. He is the strongest little boy I know. He strives every day to work his hardest to achieve anything and everything. And always does so with a huge smile on his face. 13 months ago, he couldn’t even sit up, now he is crawling all over the place, standing unassisted for short periods of time, and even taking a few independent steps! I couldn’t be prouder to call him my son. He has taught me patience; he has taught me to be kind to others and most of all to appreciate the things we have in life. There is a saying that “sometimes God doesn’t change your situation because he is trying to change your heart” and although I am not a religious person, I firmly believe that it couldn’t be truer. I believe that I was meant to be his mom and be there to push him through any obstacle he faces and to be there cheering him on always. Colton not only has me, but he has only the best support system I could ever ask for. His dedicated team of therapists and doctors has been nothing short of a miracle and blessing to me and Colton. And the amazing family that has been with me through this journey and supported me and him.

For a long time, we chose to not talk about this, to try to figure out everything we could before letting anyone else in. With only important family members and close friends knowing of his diagnosis. No matter how long or short they’ve known. But today is national rare disease awareness day and there’s no better time to not only celebrate Colton for who he is and the achievements he’s made but to also bring awareness to others about his disease and maybe reach someone who is struggling in the same boat I was in for so long. Isolated and alone. And I encourage anyone who may be going through something similar, suffering in silence, to reach out to me or any support group. And always be kind to yourself. Being a parent to a child with special needs means we completely put ourselves on the back burner to ensure our child succeeds. I won’t lie it is tough. To want only the best for your child, knowing the difficulty ahead of them, to see progress being made yet mourning at the same moment when others cannot see it or do not accept it. To constantly feel the need to explain their behaviors and feel the disapproval in the looks of others will burn a hole in your chest unlike any other before. To my handsome boy, you are braver than you believe, stronger than you seem, smarter than you think, and loved more than you will ever know. They say superheroes reside in the hearts of small children fighting big battles and you will forever be my little superhero. Mommy and daddy love you to the moon and back and one day we will reach the moon