Written by Amy Breen, a patient of The Feingold Center for Children
We all know a chair. We’ve encountered that chair various times. I know I have, sometimes to get good news, and sometimes to get bad news. I’ve laughed in the chair. I’ve cried in the chair. My first surreal encounter in the chair was when I took my 15-day old baby to The Genesis Foundation’s Feingold Center for Children at Boston Children’s Hospital, Waltham. That chair catapulted me into a very foreign world where I had no map or GPS. This new world is called Rare Disease.
The World of Rare Disease Did Not Welcome Me With A Hot Towel and Tropical Drink
Unfortunately, the world of Rare Disease did not welcome me with a hot towel and a tropical drink. Instead, the greeting was a name that is difficult to pronounce and harder to spell: Greig Cephalopolysyndactyly syndrome. Greig is a disorder that affects the development of the limbs, head, and face. People with this condition typically have extra fingers or toes, an abnormally large head size (macrocephaly), and a high, prominent forehead. More serious medical problems include seizures and delayed development, which create secondary medical conditions. Greig Cephalopolysyndactyly syndrome is very rare; its prevalence is unknown. I would have settled for a dirty towel.
At the time, I did not know I would sit in the chair for many years to come. In fact, I discovered there is an entire fleet of these chairs located in specialists’ offices, surgeries, hospital admissions, and therapy clinics.
One Chair Stands Out From All The Rest
Although I found a few good chairs in my travels through the world of Rare Diseases, there is only one chair that stands out from all the rest: The Chair in Dr. Catherine Nowak’s office, Clinical Director of The Feingold Center for Children and Geneticist at Boston Children’s Hospital. When I sit in the chair with Dr. Nowak and her team, I know that I can trust them emphatically. When I reach out to them, they always answer my call or email.
Panic Floods Every Ounce of My Body
In my most stressful moments, when the stakes are so high that panic floods every ounce of my body, I know that I can rely on Dr. Nowak and her team at The Feingold Center for Children, which is funded by The Genesis Foundation for Children. Dr. Nowak is my rock, she grounds me with her compassion and her expertise. Every parent needs a rock. I know that I can depend upon The Feingold Center for Children to provide compassionate care based on years of training and experience.
From this experience, I have learned two things: I have a daughter with a rare genetic disease, and as an adult, I have been diagnosed with the same rare disease. Dr. Nowak taught me that I need to find the strength and courage to learn as much as possible regarding my daughter’s syndrome to provide her with the care and support that she needs to thrive. We have overcome many hurdles together, and I know that there will still be difficult days ahead. But I now have the courage and voice to speak up for our needs, and to teach every physician, therapist, and teacher how they can better help Jordynn. For her care and her encouragement, I am thankful for Dr. Nowak and The Genesis Foundation for Children.
You can help make a difference for children and families living with rare diseases by making a donation today, to The Genesis Foundation for Children. We are dependent upon your support to provide compassionate, coordinated wraparound care for these children and their families.
To read more about Amy and her daughter Jordynn, CLICK HERE.
