Twelve plane trips, five states, and several adventures later, I feel blessed our family had a marvelous month-long summer vacation. However, as the vacation comes to a close, I am reminded that although our daughter, Rylae-Ann, received gene therapy to treat her aromatic l-amino…
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…
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…
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