When a Doctor Said My Child’s Rare Diagnosis Wasn’t ‘Good or Bad News’
“It isn’t good news or bad news. It is just news.”
My daughter Samantha was almost 2 years old when her geneticist shared these words and diagnosed her with a chromosome 18q deletion. The frequency of such a deletion is an estimated one in 40,000 newborns, and the characteristics of such a deletion usually vary from one individual to another. In Sam’s case, she was born with a wide, right unilateral cleft lip, complete cleft palate, severe hearing impairment, delayed myelination, attention-deficit/hyperactivity disorder, autism, sensory processing disorder and severe cognitive, speech and motor delays.
As I watch Samantha today, his words still live vividly in my mind and I realize there was much truth to his statement.
Sam is 15 years old. She has green eyes, curly brown hair and an infectious smile. She has amazing courage, strength and resilience to prevail over multiple surgeries, medical tests and other challenges that many other people in this world may never have to endure.
Sam is frequently in motion, carrying her fidget toys. Her developmental growth has been a process, but she has accomplished more than many of her doctors would have ever imagined.
I will confess there was a time when I felt like it was bad news. I found it difficult to focus on the things Sam could do when it seemed like everyone kept telling me what she couldn’t do. I wondered what I had done, why Sam was chosen to endure all of these challenges, and wound up feeling alone, depressed and besieged.
Each time a doctor shared a new diagnosis, it broke my heart and I began to believe I might only dream of hearing Sam speak, seeing her make eye contact, sit up, crawl, stand, walk, unclench her fists, eat with a spoon, drink from a sippy cup and learn daily life skills.
To this day I still feel a pain in my heart. I am not sure if it is a pain that will ever completely disappear, but I have learned not to dwell on it. None of these diagnoses could change the immense love and admiration I have for Sam, and when I see the beautiful human being that she is and the wonderful things she is beginning to do, I look at the world in a whole new way, and the important things in life become clear.
This is not just news. It is good news.
Sam is very sweet, loving, happy, funny, fearless, intuitive, bright and determined.
Sam attends 9th grade in an inclusive education and Learning in Functional Environments (LIFE) Skills setting where she receives deaf education services, deaf-blind services, occupational therapy, music therapy, speech therapy, physical therapy and adapted PE. Sam loves her school, teachers and therapists and continues to make progress every day.
Sam enjoys books, music, sign language, can drink from a cup, feed herself with a spoon and walks with assistance. She is even beginning to eat lunch sitting with her peers in the school cafeteria!
Sam loves to swim and surf and is a Special Olympics Texas athlete in aquatics.
Sam inspired a children’s book and is also paving the way for others by becoming the first girl with special needs to participate on the pre-drill team at her high school.
As Sam continues to grow, I will always have questions, will always be learning, and I am aware that the transitions and challenges that we will encounter every hour, day, week, month and year are not always going to be easy. However, with faith, love, support and optimism, I believe we can make it. Sam is an angel on Earth, a gift. She has brought several extraordinary people into my life, has made me different and has taught me how to nurture hope and never give up.
She has also made me a much stronger, complete human being, with a special wisdom and compassion, helping me to recognize and appreciate that I, too, have gifts and abilities that I never knew I had.
Yep, this is good news.
The Mighty is asking the following: What’s one thing you thought on the day of your or a loved one’s diagnosis that you later completely changed your mind about? If you’d like to participate, please send a blog post to [email protected] Please include a photo for the piece, a photo of yourself and 1-2 sentence bio. Check out our Submit a Story page for more about our submission guidelines.