Amber is a 10-year-old girl who is extremely bright and full of life no matter what challenges she faces. Amber was diagnosed roughly 3 years ago with LMNA-CMD by Dr. Bonnemann at the Children’s Hospital of Philadelphia.
Amber was born vaginally with no complications and actually received high apgar scores. From birth, Amber’s toes always remained tightly clinched, which was always a concern. Amber continued to grow and reach certain milestones, but always had poor head control and we just chalked it up to her being a very content baby. Finally at her 6-month check-up, her pediatrician suggested we have her seen by a neurologist and that’s when all our pain and heartbreak took place.
Our initial visit with the neurologist was not at all the most pleasant visit. The doctor had tested Amber for SMA and sent us home with weeks to wait for the results. The results came back negative, which led us to a muscle biopsy, which came back non-conclusive. We were then referred to Dr. Spiro at Albert Einstein in the Bronx, who at first thought she had merosin positive CMD, but later determined it was not, after he took a look at a sample of her muscle biopsy.
We continued to search for an answer and still came up empty-handed. Amber remained a puzzle to each specialist she saw—yet, they couldn’t find that missing piece. We then just decided to go on with life and do all that we can to make it as best as we could for Amber. Yet, we couldn’t just sit back and not find an answer in hopes of a cure. I wrote a letter and sent it to the Top 10 Children’s Hospital and that’s how we ended up in Dr. Bonnemann’s hands.
At our first visit with Dr. Bonnemann, he said we will find an answer. Sure enough he did. Amber was diagnosed with LMNA-CMD. However, even with this diagnosis, things haven’t changed. While we finally put a name on what she has, there is no cure. We are now aware of what to look out for, to hopefully give her the best quality of life possible.
Amber has dealt with many health issues and we’ve almost lost her a handful of times. Fortunately, she is strong willed and quite a fighter. God has kept her with us. With each episode we faced, we learned more about how to handle her disease and we are now equipped at home with medical equipment to assist us in any future episodes. One major component of the medical equipment is a bi-pap machine, which assists her breathing while sleeping. This machine has saved her life and keeps her going each day.
Amber is an angel sent to us from God and as I always say she brings a whole new meaning to life! I thank God for each day I have with her because she makes me laugh, cry and believe it or not angry, as if she was your typical 10 year old.
Amber has been in a powered wheelchair since she was 2 years of age and that is her life. She is currently mainstreamed in our town’s elementary school and is in fifth grade. Everyday living with this disease always involves a hurdle. While some hurdles are bigger than others, her strong will and great disposition has helped to overcome them. This is not an easy disease to live with and what makes it even harder is that there is no cure. We pray each day that someday in her lifetime there will be a cure. To my knowledge, Amber’s form of CMD is a very new form and only a handful of individuals have been diagnosed. Continuous research to find an answer could make these innocent children enjoy life as they should. I believe that, with today’s knowledge and technology, there will be a cure some day.