Another hospital visit and another test. Searching for answers for the condition of our daughter, Rylae-Ann, meant constant hospital admissions. Between testing and treating complications of this mystery disease, the hospital staff knew us by name. These trips involved drawing vials of blood, extracting cerebrospinal fluid (CSF), taping electrodes to…
The Journey of Beautiful Destinations — Richard E. Poulin III
Richard E. Poulin III is an American currently working as Head of Middle School for an international school in Bangkok, Thailand. He is also the president of the nonprofit organization Teach RARE. In 2018 his newborn daughter, Rylae-Ann, was diagnosed with the ultra-rare disease, aromatic l-amino acid decarboxylase deficiency. Richard shares his journey and aims to provide caregivers with strategies and tips to improve their family’s journey.
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There are moments in parenting that feel small when they happen, but later you realize they carry the weight of everything you have been working toward. For me, one of those moments happened at a bowling alley. My daughter, Rylae-Ann, was born with a rare disease called…
As the sun crept higher into the beautiful morning sky, we decided to eat breakfast at a nearby park. The short walk would delay our normal breakfast time, but it seemed like a wonderful idea. But as we sat down to begin the picnic, our daughter’s skin turned noticeably pale,…
Airports are notorious for their challenging security and health requirements. Parents of children with special needs may find the thought of airline travel too daunting to even try it. However, we’ve done it three times on international trips with our young daughter, who has aromatic l-amino acid decarboxylase (AADC)…
Beneath my daughter’s skin, I know there are muscles, and deeper still is the desire to move. I know it’s there, but despite my willing her to move, she can only stare back. Sometimes I cannot meet her eyes, and my stomach twists, knowing I have no answers for her.
Father’s Day has just passed in the United States, and I appreciate all the wishes and wonderful comments I receive each year. However, this year, I’ve been thinking about the power of grandmas — the family members who have the greatest experience of being a parent. In my case, the…
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…
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