Imagine that arms reach into your warm and dark shelter of solitude and thrust you into blinding lights and chaos. Cool air surrounds you and tickles your skin. As your eyes try to adjust, strange music combined with screaming disorients you further. Fear grips you when strange foreign objects are…
One hour of physical therapy cost us $150. Therapy rooms were filled with swings, mats, blocks, and an array of colorful objects. There’s no space in our house to set up our own, and we would probably break the bank trying. However, we could have all the same equipment and…
Chimes and notifications began to appear on my phone on the morning of May 20. Messages and questions in my inboxes soon followed. Everyone was excited that the previous day, the Committee for Medicinal Products for Human Use (CHMP), an arm of the European Medicines Agency (EMA),…
Our genetics are not written in stone. Who we are and who we will become is not a predetermined story coded in the proteins of our DNA. This may seem like a rewriting of the old nature versus nurture debate, yet I was recently reminded that we make our own…
Our attempts to feed our daughter, Rylae-Ann, who has aromatic l-amino acid decarboxylase (AADC) deficiency, were never a leisurely process. She fussed and spat out food while we endeavored to feed her. Understandably, it was a difficult task for her to complete. We tried our best not to turn each…
I often write about various types of therapy in relation to aromatic l-amino decarboxylase (AADC) deficiency, as I believe they are integral to the well-being of children with this disease. Before gene therapy, the accomplishments our 4-year-old daughter, Rylae-Ann, made during her therapy sessions prepared her for…
Gene therapy is complete! Now what? The first day after receiving the monumental gift of our daughter partaking in a clinical trial for gene therapy, we asked ourselves this exact question. There were no handbooks on what to do after this revolutionary procedure. We began working with…
A sense of foreboding filled my mind when I first read that there are no approved treatments for aromatic l-amino acid decarboxylase (AADC) deficiency, a condition our 4-year-old daughter, Rylae-Ann, has. I closed my laptop and paced the room but quickly returned to do some research, because fear has never…
Since our family’s first trip to the hospital on that dark and rainy night a few years ago, hospitalizations have always been challenging. Our daughter, Rylae-Ann, who turned 4 this month and has aromatic l-amino acid decarboxylase (AADC) deficiency, would scream and grow tense with anxiety and…
Our daughter, Rylae-Ann, was born in April 2018. By December of that year, she had been diagnosed with aromatic l-amino acid decarboxylase (AADC) deficiency, and we had received a subsequent verbal agreement to join a gene therapy clinical trial the next year. The eight-month wait while trying to…
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