Since the moment her mom Tanja realized she was pregnant, her daughter Willow has been full of surprises. Today, Willow is a nurturing, kind, sweet 10-year-old, who loves her new dog Teddy. She is also thoughtful, strong-willed, and stubborn – qualities she needs as she lives with Arginase 1 Deficiency (ARG1-D).
Willow entered the world after a healthy pregnancy and was immediately labeled a “good” baby. She was easy going, calm and slept a lot. As the months went on, her parents noticed she was missing the milestones you look for in babies and young children. “We were told there was nothing to be concerned about, and the only doctor’s orders I was given was to stop holding my baby so much,” remembered Tanja. “As a new mom, you look for advice and wisdom from others, but as time went on, your own instincts kick in too and I knew something was not right.” Willow would eventually meet developmental milestones, but they were always delayed, and she never quite caught up to peers physically.
In addition to missing developmental milestones, Willow had a unique gait pattern when walking and often tripped and fell. She was also not gaining weight or growing physically, remaining at 30 pounds for an entire year. At age four, doctors began the search for metabolic causes of her symptoms. During this time, Willow began experiencing “absent seizures,” a type of seizure that lasts between 10 and 30 seconds. Willow would abruptly stop whatever she was doing and generally just stare off into space. Finally, at age five, the family had an answer: Arginase 1 Deficiency. “At first it was a relief, we’ve got something we can work with,” said Tanja. “Then we went online, and the relief turned into terror. There was nothing reassuring for us.” The information Tanja and her family found online about ARG1-D included conflicting facts about the disease itself, and about the proper way to manage this rare disease. Even more devastating, it was clear in reading and in speaking with doctors that there were no approved therapies to treat ARG1-D.
Working with a registered dietician, Willow’s parents immediately placed her on a low-protein, arginine-restricted diet supplemented by essential amino acids which she continues to follow today — reluctantly. “Willow gets frustrated when she can’t eat the same foods as her friends. She desperately wants to eat her school’s lunches, but all of the options far exceed her dietary limitations. She also spends hours every day trying to drink her daily formula. She can’t drink it quicker because it just tastes so bad, even with it being heavily flavored. She makes me proud, though, every time she advocates for herself and her disorder, which does regularly.”
Today, Willow continues to follow her strict diet and faces mobility challenges. Her life as a 10-year-old is interrupted with many hospital visits, medications and the nutritional “juice” that is always a struggle to finish. Still, she continues to educate her friends and teachers by talking openly about Arginase 1 Deficiency. She keeps a sense of humor about her differences and does so with a will to persevere that is beyond her young age.
For Tanja, like every parent, her journey with ARG1-D continues too and she has found strength in connecting with other families. “As scary as this road may be, I have learned that I do not travel it alone. We live in this world that is rare and challenging, but I have found a community that I can share my highest highs and deepest lows with. Together, we are okay.”
Tanja’s hopes for Willow are simple. “I have the same hopes and dreams as any mom. I want her to grow up to be happy and healthy, and confident and completely herself.”
“There are people who walk in your shoes every day. We know what you are going through, and I am here to tell you that we are here for you. You’re going to be okay, too.”