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…
The Journey of Beautiful Destinations – a Column by Richard E. Poulin III
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…
When I first learned about the severe symptoms associated with aromatic l-amino acid decarboxylase (AADC) deficiency, standing seemed like an impossibility for my now 3-year-old daughter, Rylae-Ann. However, physical therapists told me about a device that makes standing possible while serving as a form of therapy. At the time…
As a young boy, I used to lie in bed and play in my room imagining that I was a hero or that I had accomplished something great. Maybe everybody has had dreams like this. In my daydream, I was always in some sort of war or great battle, probably…
Recent Posts
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- New proposal seeks to fast-track rare disease treatments in UK
- The impossible became the new normal after we accepted AADC deficiency
- Rare disease workshop focuses on patient-centered drug development
- For families in the AADC deficiency community, there is no perfect path