While the term rare disease refers to an uncommon disorder, more than 7,000 rare diseases affect an estimated 30 million people in the United States alone. That means almost one in 10 Americans are living with a rare disease. Together, rare diseases aren’t so rare after…
Before all the New Year’s resolution posts begin to be smeared across the internet, inducing feelings of guilt and shame, I want to preempt all that with a personal problem and solution. First, you’re amazing! Parents and caregivers of children with challenges often have double the work…
In December 2018, my wife and I discovered our daughter, Rylae-Ann, had a rare, genetic disease known as aromatic l-amino acid decarboxylase (AADC) deficiency. We didn’t know much at the time, but we quickly learned there were no treatment options. That’s now changing, however, as medical innovations…
My wife and I enrolled our daughter, Rylae-Ann, who has aromatic l-amino acid decarboxylase (AADC) deficiency, in a one-year clinical trial that required her to stay in Taiwan. We had accepted new jobs in Singapore, so Rylae-Ann’s grandma and nanny stayed with her the…
It would be impossible to name all of the people and organizations that have helped us over the last four years. I know that you did it from your heart and never expected a thank-you, but it is important to our family to acknowledge you and to tell others your…
When the holidays approach, we scour department stores to find an outfit our 4-year-old daughter, Rylae-Ann, can wear so that she looks great in our seasonal family photos. She accommodates us by wearing all of the clothes we want her to, but we struggle during bathroom breaks and at…
In a sea of more than 7,000 rare diseases, it is remarkable to have a day to call our own. In 2020, the AADC Family Network established AADC Deficiency Awareness Day, which is now held annually on Oct. 23. Over the past three years, our community has gathered virtually…
Our first Christmas Eve as a family was spent in a park. My wife, Judy, and I sat on a bench, trying to comprehend what was happening to our daughter, Rylae-Ann. In December 2018, we had a clue what she had, but we had no idea what…
Once we finally knew what our daughter, Rylae-Ann, had, we also learned that genetically, she wouldn’t be able to move. She would most likely be bedridden, and there was no treatment. However, when she laughed, her body moved, her eyes opened, and I caught a glimpse of my daughter, who…
Rylae-Ann was born by an emergency cesarean section. As Mom was stitched up and came off the anesthesia, I remained with a crying, screaming baby. As a new dad, I didn’t have a clue. I instinctively snuggled up to her and began to hum softly into her ear. Three months…
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