Monica McDivitt

Sam was nearly 2 years-old when she was diagnosed with an 18q- deletion. The geneticist told my husband, John, and I, “It isn’t good news or bad news. It is just news.”

As I watch Samantha today, I realize there was much truth to his statement. Sam is 7 years-old. She has green eyes and curly, brown hair and runs briskly from room to room in our home babbling loudly and happily. One minute Sam is my shadow, following me into our kitchen. The next minute she is running into the family room to pull ornaments off of the Christmas tree. Sam is a child who likes to play, explore, giggle, love and be loved. She enjoys books, music and sign language, can drink from a cup, eat from a spoon, walk and run independently, jump up and down and ride her Rifton tricycle. Sam is a child with amazing courage, strength and resilience to prevail over multiple surgeries, medical tests and other challenges that many other people in this world will almost certainly never have to endure. How could this be “bad” news? Sure, Sam may look and act differently and she may not have verbal communication skills but it would be unfair to only see her as a child with multiple disabilities.

I will confess there was a time when I felt as if the world was literally falling apart. It was difficult to focus on the things Sam could do when it seemed like everyone kept telling me what she couldn’t do. There was a laundry list of abnormalities – right unilateral cleft lip, complete cleft palate, severe hearing impairment, poor eye contact, eczema, delayed cognitive skills, delayed speech, delayed motor skills and after the first MRI, delayed myelination. John and I were overwhelmed. We had many concerns because we didn’t know the answer to one big question, “Why?”

There was no obvious answer to that question. However, the diagnosis of 18q- actually made me feel better because I was finally able to understand why Sam exhibited all of these characteristics. Though John and I still feared the possibility of severe mental retardation, we knew we had to remain hopeful. Sam needed to be given a chance to grow and it was our job to help her.

Sam began receiving Early Childhood Intervention (ECI) Services at age 6 months. She graduated from ECI at age 3 years and then immediately began the Preschool for Children with Disabilities (PPCD) in the Katy Independent School District. Today, Sam attends 1st grade in an inclusive education and Life Skills setting. She receives deaf education services, deaf-blind services, occupational therapy, physical therapy, speech therapy and aquatics (adapted P.E.). Sam loves her school, teachers and therapists and continues to make progress everyday.

Over the past 7 years there is no doubt that I shed many tears and often asked myself, “How many medical tests could possibly be ordered? How many more doctors would we need to visit and when would we all have a chance to rest and enjoy each other as a family should?” I also thought, “Would anyone ever tell me and John that our child is ‘normal’?” To this day I still feel 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. In fact, it has made me stronger. I learned the world did not fall apart and none of these diagnoses could change the way John and I feel about Sam. Our love for her is immeasurable and we know we are blessed to have such a sweet, happy, beautiful little girl with the ability to touch hearts and teach me, John, and other people who meet her, important lessons on how we should all count our blessings, nurture hope and appreciate our own abilities.

Though, John and I do not know what the future holds, we will continue to have dreams and high expectations for Sam. Why shouldn’t we? We do see circumstances and conditions where Sam is unable to cope. Sam will often react to situations that she finds frightening in ways that others do not understand. Large department stores like Target are always a challenge. Elevators are scary. Transitions are difficult. However, we try to look at the world through her eyes – What would it be like if we didn’t understand our world the way others do? What would it be like if we could not hear? We identify, comprehend, assist and challenge, but we try to present challenges that will give her the possibility of success. John and I want Sam to have a happy and healthy life, to be loved unconditionally, to laugh, to dream and to look forward to a promising future. We want her to be able to fulfill her basic needs and to achieve her full potential. We know that Sam is capable of learning. We can see it in her eyes and in her actions and we are optimistic that Sam will be successful as long as she is in a community where she is embraced, challenged and included.

As Sam continues to grow, John and I will always have questions, will always be learning, and we are aware that the transitions and challenges that we will encounter every day, week, month and year are not always going to be easy. However, with faith, love, support and optimism we can make it. We have already made it this far and we know that we are not alone. John and I have met many wonderful families by belonging to the Registry. We joined the Registry one month after Sam’s diagnosis of 18q-. Since then we have hosted 5 fundraisers in Katy, Texas and it is our wish to continue as long as we possibly can so we can raise money for more research, find answers to our never-ending questions and bring all of our families closer together!