Treasurer
On September 12, 1987 I married my high school sweetheart, Tom. We met in the Dietary Department of St. Joseph Hospital in Towson, Maryland. After graduating from high school, I went on to college and graduated in 1985 with a BA degree in Accounting and Management from the College of Notre Dame of Maryland.
In September, 1991 our son, Michael Patrick was born followed by Andrew Thomas two years later. Up until Andrew was born, I worked full time as a Controller for a subsidiary of BlueCross BlueShield of Maryland and was completing a Master’s Degree Program. After Andrew was born, I “retired” from the corporate world and began a small accounting practice which I still continue today.
The daughter I had been longing for was born on April 30, 1997. By all accounts, my pregnancy, labor and delivery was as normal as my prior two deliveries when my boys, Michael and Andrew were born. Rebecca was the largest and longest of my three children.
When Rebecca was about three months old, my motherly instincts told me something wasn’t right. Rebecca was nowhere near accomplishing the “first year milestones” such as rolling over, pulling herself up, or crawling. Rebecca’s eyes were always crossing and she had a hard time seeing to pick up the Cheerios that were on her highchair tray. She also had no appetite. For many months her diet consisted of ketchup, yogurt, one slice of American cheese and chocolate milk. For an entire year, she gained no weight. Her height, which started at the 10th percentile, kept falling off the growth charts. “What is wrong with this child?” I would continually ask the pediatrician. “Wait until she turns 1 and we’ll see where we are.”
When Rebecca turned the “magical 1”, it was obvious she was not going to achieve her developmental milestones. Our visit with the geneticist confirmed that something indeed was wrong with Rebecca. A fluke at conception caused a deletion of her 18th chromosome. On one of her chromosomes, the “p” portion was missing and the “q” was on Chromosome 21. After the diagnosis, the only thing I heard doctor say was mental retardation. I remember walking out of the doctor’s office with textbook pictures of severely handicapped children and research from 1963..the year I was born!!!
On October 1, 1998, the day of Rebecca’s diagnosis, my life had changed forever. Never had I envisioned needing to see endocrinologists, geneticists, developmental pediatricians, ophthalmologists, ENTs, OTs, PTs, SLPs. The appointments, the therapies, the phone calls, the insurance nightmares. It was all very mindboggling and overwhelming. I was not only dealing with this new life I was thrust into, but I was silently mourning the loss of “my perfect, whole daughter”. After a few days of feeling sorry for myself, it was time to act. I knew I needed to find support. I needed to find parents who are or have “walked in my shoes”, navigated this complicated medical maze, advocated for their children. I could no longer watch and wait for Rebecca to “get better” or for someone to tell me what Rebecca needed. I needed to make the appointments, I needed to read the research, and I needed to learn as much as I could about Rebecca’s condition. I found my “second” home when I called The Chromosome 18 Registry and Research Society. I was instantly connected with families who understood what I was talking about and could offer solutions to problems I felt were unsolvable. I was no longer alone.
The early years were rough. Rebecca spent her first year continually sick with ear infections, colds, pneumonia, RSV and the chicken pox. After two sets of ear tubes and the removal of her tonsils and adenoids, Rebecca, at the age of 2, started walking! Finally after a year of being sick, we were on the road to wellness!! Now it was time to concentrate on her speech and figuring why she wasn’t growing or gaining weight.
98% of 18p children have speech issues. Rebecca was no exception. In her early years, I taught Rebecca a few signs so she could at communicate basic needs such as food, drink and more. I tried early intervention through the public school system for speech , but after a year of no progress and no speech, it was time to make a change. Rebecca needed intensive one on one speech and oral motor therapy. I had read that a positive effect of GHT was an increase in muscle tone. If Rebecca was on GHT, she not only would grow but the muscles in her mouth would strengthen which would help her to talk. I was willing to give GHT a try.
Today, at ten years of age, Rebecca is a happy, carefree girl who enjoys jumping rope, swimming, playing with her Polly Pockets and watching Full House. She has been on growth hormone therapy (GHT) for 7 years. She is now in the 10% for height and 75% for weight. Her endocrinologist believes her height will end up around 5’ 3”. The downside to GHT is that Rebecca is already at Stage 2-3 of puberty. Rebecca’s speech has also improved to the point that she is a chatterbox. Now, in addition to speech, the therapist is integrating the language piece (reading, spelling, writing) into her sessions. There is no question in my mind that Speech Therapy and GHT have made dramatic improvements to Rebecca’s overall growth, development and maturity.
I have learned to take nothing for granted. I continually ask Rebecca questions about words or situations that might be unfamiliar to her. The things we assume children “just learn” such as how to start a conversation, what to do if you need help in the cafeteria, what to do if you need to use the bathroom are things, what to do if someone makes fun of you, inferences (It’s raining cats and dogs!) do not come naturally to Rebecca. These are things we practice and reinforce on a daily basis.
School is hard for Rebecca and she longs to find “her one true friend”. However, it is her perseverance, positive attitude, willingness to learn and love of life that keeps her striving for success. Rebecca is my inspiration and the joy of my life!