Before our daughter, Rylae-Ann, was born, I read books and logged many internet hours learning about parenting. I wanted to be prepared. However, issues like common viral infections were deleted from my mind once I knew she had a rare disease. My wife, Judy, and I didn’t know much about…
After the dough came out hot from the oven, I added drops of dye into three balls of it. I worked the different colors into the dough to create a favorite and timeless childhood toy that’s been proven valuable for learning, creativity, and sensory integration. Modeling clay, putty, or colorful…
A notification pops up on my phone. It’s from Facebook, sharing a memory from five years ago. The clip shows me holding my daughter, Rylae-Ann, who’s playing with a ball. However, I acted as a puppeteer because she couldn’t move her limbs, and there was no indication she’d ever be…
In June, I celebrated my 40th birthday. The day went as planned. Family showered me with attention, friends rubbed in the major milestone, and Facebook well wishes came pouring in. Entering the second half of life, I realized that, in my youth, my mentors set me up for challenges I’d…
My wife, Judy, and I sat on our sofa in a cool, dark room despite it being the middle of the afternoon. We tried to keep our daughter asleep in an effort to avoid the dreaded spell that came every three days. Our phones were nowhere to be seen because…
Our daughter, Rylae-Ann, blinked her eyes a few times before scanning the white room. A warm smile instantly appeared when her hazel eyes fell on my wife, Judy. That’s how she began the first day of her new life. In November 2019, Rylae-Ann underwent experimental gene therapy…
Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare genetic disease with only about 135 cases seen worldwide since it was identified in 1990. So where do we go for help, and how do we care for our daughter? These were questions my wife, Judy,…
Meeting another father whose daughter has a rare disease always prompts a free-flowing and earnest discussion. When it happens, I don’t refrain from opening up. I had an eye-opening experience during a recent meeting with a father with over 25 years of experience in the world of rare diseases. The…
My full and undivided attention was dedicated to navigating the stroller over cobblestone sidewalks. When I reached the end, I executed a 180-degree motion so that the back wheels descended the high curb first since there was no ramp. Potholes, stairs, and crowds were some of the other challenges we…
Warm water flows across our child’s scalp and soothes her. Other times, the water tickles her and makes her feel anxious. Over time, these observations supported us in making her bathing experience pleasant. Children with aromatic l-amino decarboxylase (AADC) deficiency will have severe symptoms such as…
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