Things change, there’s no denying that. But when you’re handed the unexpected news that your baby, who was born healthy, has a debilitating disease, change can be life-altering. But change isn’t always bad. One of the first changes that came our way after our daughter Rylae-Ann’s diagnosis was new friendships.
Once we started joining aromatic l-amino acid decarboxylase (AADC) deficiency communities, families began reaching out, offering support, and providing information. As our knowledge about the disorder grew, my wife and I began applying what we knew about education. Although we are teachers, we never sought to teach other families. Instead,…
When a parent sees their child gripped with fear or anxiety, we immediately take action to reassure them that everything is all right and they are safe. However, with children who have aromatic l-amino acid decarboxylase (AADC) deficiency, this is not easily remedied. It is an issue that we constantly…
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…
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…
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