We struggled to comprehend the news and reeled from the shock when our daughter, Rylae-Ann, was diagnosed with a rare disease known as aromatic l-amino acid decarboxylase (AADC) deficiency. We tried our best to learn about interventions and proactive steps. We concentrated on improving her eating to…
The Journey of Beautiful Destinations – a Column by Richard E. Poulin III
Our daughter, Rylae-Ann, has medical records scattered around because of multiple visits to the hospital, traveling to meet doctors, and moving homes. Those afflicted by aromatic l-amino acid decarboxylase (AADC) deficiency will benefit from keeping their medical records readily available and organized, as they deal with many…
We have seen several doctors in various countries in order to provide our daughter, Rylae-Ann, with the best healthcare and most beneficial checkups. We have settled on two doctors, and are always open to seeing others, but we’re learning that it isn’t uncommon to find doctors who are unwilling to…
Genetic testing has gained much attention thanks to commercial products that provide people with details about their family’s origin. With a simple home kit, you can mail off samples and receive materials about your DNA. However, for families experiencing medical diagnostic challenges, DNA testing offers hope for answers, as it…
My wife and I would not have accomplished as much as we have without our support network. These people have played a critical role in helping us manage our daughter Rylae-Ann’s aromatic l-amino acid decarboxylase (AADC) deficiency. I used to want to take the world on by myself. I would…
Before our daughter, Rylae-Ann, was diagnosed with aromatic l-amino acid decarboxylase (AADC) deficiency, the telltale sign that something was amiss were the cyclical spells that began at 3 months old and occurred every three days. We initially thought they were seizures, but later learned they were oculogyric…
I had read a guide for dads before my daughter was born, so I knew what to expect before that first bowel movement. Called meconium, it comes in the first few days and is typically sticky, thick, and dark green — a mixture of old cells, protein, fats, and bile. Our…
Before my daughter, Rylae-Ann, showed symptoms of aromatic l-amino acid decarboxylase (AADC) deficiency, we had her in the ocean and the pool. I grew up on an island, where water activities were never far. Water has many healing properties and benefits that helped our daughter make progress in addition to…
Aspiration, a condition in which food or liquid enters the airway instead of the esophagus, requires our constant attention when caring for children with aromatic l-amino acid decarboxylase (AADC) deficiency. Due to the motor and autonomic dysfunctions associated with AADC deficiency, unfortunately,…
When I first became concerned that my daughter Rylae-Ann wasn’t reaching her developmental milestones, and that her limbs and eyes were moving strangely, I took to the internet to try to figure out what was happening. I came across an article about a young girl in Canada…
Recent Posts
- NORD adds 7 sites in 5 states as Rare Disease Centers of Excellence
- Simple strategies and new exercises help to correct mouth breathing
- New AI tool for doctors’ notes may save patients years to be diagnosed
- Computer-guided surgery delivers gene therapy to 2 children
- This Thanksgiving, I’m expressing gratitude and hope for the future