Cameron, "Cam", from Illinois
Our child’s name is Cameron (mostly known as Cam), and she is six years old. Cam was born in August of 2016 at 38 weeks through cesarean section due to being breached, but otherwise, it was an overall healthy “normal” pregnancy. Thanks to the newborn screening tests, Cameron was diagnosed at birth with her disease. They called us within the first two weeks of bringing home our newborn baby from the hospital saying that she had tested positive for a genetic disease: Methylmalonic Acidemia, which was caused by Cobalamin C deficiency.
After multiple Ophthalmologist appointments and a sedated imaging scan through neurology, Cam received a diagnosis of retinal degeneration in 2019. As you can imagine, we as her parents took this news hard. We feared the unknown. We wondered what this diagnosis might mean for our baby’s quality of life, her future, and for us as a family. After our initial feelings and emotions set in, we knew we needed to make some mental adjustments so that we could be at our best to provide for our special baby and be her advocate.
Our friends and family have been great. This journey has humbled us all and shed light on so many things we never imagined we’d face or ever go through as we love and support Cameron. Cameron has touched many of our loved ones and has a special place in their hearts. We rallied together in 2020 for World Rare Disease Day and hosted a fundraiser to raise money and donate to help with resources and research for all genetic diseases. The love and support we received was amazing - all for the love of our sweet Cam. Her journey is teaching us all not only knowledge about this rare disease but empathy for all those affected.
Although Cameron has developmental delays and struggles with vision impairment she continues to thrive and amaze us in other aspects of her life. She is bilingual, speaking both English and Spanish fluently; the first in the last two generations on her mom’s side to do so. Her disease affects her body’s strength and energy but her motor skills have grown tremendously, and she is so very active and full of life. She is progressing in her understanding of situations and how to react to them. Cameron also amazes us with her remarkable memory! If you’ve ever met her, taken her somewhere, played a song for her, or simply spent time with her, she will never forget it and will remind you any time she sees you again.
The biggest challenge as her parents honestly comes from just feeling helpless at times, wanting to give Cameron all the treatment and help she needs to be able to do everything a child her age should be able to. As of now, Cameron’s biggest obstacle seems to be her loss of vision. She has struggled with the lack of eyesight from the very beginning, has seen different ophthalmologists, and is dealing with retinal degeneration. It is sometimes challenging for us to determine in certain situations if Cameron is not comprehending something or if her eyesight is rendering things. I think simply having patience and grace for her as she learns to navigate through life is how we will overcome these situations.
If we could give newly diagnosed families advice it would simply be this - the promise that no matter how it seems right now, everything will be ok. Many emotions will come into play initially and I hope you know that your feelings are valid and that you are not alone on this journey. Time will bring you understanding, knowledge, hope, and most importantly strength. Be patient with your child and yourself as you’re figuring out this way of life together. Don’t measure your child against others or what medical standards say. Don’t dwell on the setbacks and celebrate the wins, big or little. Enjoy your little one because time flies by and you are truly blessed to be given the honor of watching and helping this amazing being grow. Stay strong, stay together and...remember how lucky you are to love someone RARE!