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,…
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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
- Taking time for the unscheduled work of rare disease parenting
- When a cute snort becomes a warning sign for a child with AADC deficiency
- Man’s case shows mild symptoms may sometimes mark AADC deficiency
- Stories about rare disease that educate and inspire deserve to be told
- This rare disease family showcased its adaptability as floodwaters rose