09.12.2024

Wheeler is five years old. When he was less than a month old, his parents were told he would lose his vision, memory, mobility and life. Wheeler has CLN3 juvenile Batten disease, a condition that, on top of losing nearly all of his abilities, causes him mental destruction and behavioral storms, and eventually will rob him of his life, likely in his teens.

Getting through an average day is exasperating for everyone in the family. Wheeler is both sensory sensitive and sensory seeking, making even the smallest of tasks - like a few bites of dinner- challenging. His mom Judy plays ‘knights and dragons’, making growling sounds as she hangs her 50lb son upside down, struggling to hold up his weight, to meet his sensory needs in the hope he will sit down and eat his dinner. Meanwhile, Wheeler's dad Court plays with his younger son Read, who is not affected by Batten, but like any child, has his own wants and needs - needs that are hard to meet in a home that revolves around Wheeler.  Even their two dogs chip in to support, often approaching Read with a ball to play with or lying on Wheeler to provide sensory input. Court and Judy divide and conquer, fighting their exhaustion from a long day, in hopes of being the best parents they can be amidst the overwhelming situation they were dealt. Only to know they will do it all over again later that day, and then again the next.

08.07.2024

This may look like any child, any family, any weekend. A dad and mom sharing the excitement of their daughter, little hands grasping a new toy, eyes wide with curiosity at the tiny image on the camera screen. What you can't see is that this little girl, Ipek, has a fatal genetic disease - ataxia telangiectasia, or AT - which eventually robs children of their ability to read and write, slurs their speech, confines them to wheelchairs and makes them highly likely to get regular lung infections that don't respond to antibiotics and malignant cancers like lymphoma and leukemia. Children with AT often don't survive their teenage years, at most into their twenties. 

But Ipek received a highly targeted genetic treatment at just three years old and became the second child after Mila to receive an individualized medicine. Four years have gone by, and although regular injections and hospital monitoring are the price to pay, Ipek's life is more normal than what it should be. 

It's moments like these that give us hope that we can find and treat children like Mila and Ipek in time so that they and their families never know life with disease.

07.09.2024

Henry Saladino can say a few words, but his mouth and tongue don’t cooperate with his thoughts. He understands everything other 4 year olds can, but his genetic disease, alternating hemiplegia of childhood, or AHC, has made life far more difficult, frustrating and scary than for the other kids his age.

Like Henry, Mila struggled to tell us what she wanted to say. I can still feel the sadness of watching her try so hard to form the words, only to sigh, bow her head and give up.

Henry’s parents find their way of connecting. They sit beside him and say, "how much do we love you?", waiting in silence as Henry responds by reaching one arm up high to say "Soooo much!!". Then they do the same to show him they understand.

04.02.2024

Logan and Iris are two year-old identical twins whose gentle smiles and dark curls pull me in. I met them, together with their brother and parents Trisha and Chris, on Zoom when the girls were tiny, soon after they were diagnosed with SPTAN1, a rare genetic disease. At the very dawn of their lives, their fate was handed to their family on a plate - die young or survive, trapped in the minds and bodies of infants whose breathing, eating, sleeping and moving would forever depend on others. 

The trajectory of Trisha and Chris' lives is far from what they had dreamed of, at first glance unbearable even to me after what I have lived with Mila. Every moment of every day and every night consumes them. But the delicate balance they have found of fighting hard for a treatment while also accepting their life today, of feeding, diapering, suctioning and rehabilitating their girls while at the same time pausing to take in the smallest moments of joy, is something so beautiful that it must be shared. 

02.13.2024

Sunday marked three years from when Mila's big beautiful spirit left her small body. I can't quite accept that it's been that long. Azlan and I spent the day walking through a forest of snow, the sun shining through the tall trees, climbing up the rocks to our special spot and looking out over the mountains. We sat quietly, closed our eyes, like we've done countless times to connect to what was Mila's world, and listened to the amplified sounds of birds singing to each other across the canyon.

This day has been a day of death. Death of both my daughter and of part of my soul. But this year also felt like a day of relief, as I imagined Mila finally free of the body that so unfairly held her hostage.

Every day I think of Mila. Every day I remember what it felt like to put my hands on her. And every day I try my best to learn the delicate dance of joy and pain that has become my life.

01.10.2024

(1/6) In November 2016, as my six-year-old Mila lay weak in the hospital from a battery of tests, I raced through photos, articles and scientific papers online to find the answer to what was happening to my daughter. I had combed the internet for years with no luck, but just then, in the dark of the night with Mila in the hospital bed beside me, I came across a video of Charlotte Gray.

Like Mila, she was born at the end of 2010, had thick silky brown hair, big brown eyes and a mischievous laugh. Like Mila, I watched as she zipped around on her scooter, dove into the pool and smiled wide for the camera. Like Mila, she had taken a mysterious turn and began a rapid decline. And then she and her little sister Gwenyth were diagnosed with the fatal condition, Batten disease.

It was on the video when she tripped, holding her mother's hand, that made my heart stop. As she fell in an unusually rigid way, it was like watching Mila. The interview with her parents that followed drove the pain even deeper. "Most children don't live beyond the age of 12", Charlotte's mom Kirsten said. "Children lose their eyesight and become blind. Then they can't talk or walk, and they're basically bed-ridden. They're given a g-tube because they can't feed themselves because they lose their ability to eat. And then they die.", she continued, tears running down her face as she fought to speak.

Just days after watching the video, Mila too was diagnosed with the same devastating disease. Both girls were destined to die. 

Charlotte's parents raced against time to stop their girls' disease and started one of the very first gene therapies to the brain. Because of their help and friendship, I was able to fight for Mila. Both girls were fortunate enough to be among the few who received treatment. But too many dominoes had fallen by then. They would become the pioneers who are helping those who follow. 

A few weeks ago, Charlotte turned 13. She is the age Mila would have been today.

10.02.2023

Today, I stopped by to visit Mila's sculpture. I parked my car and walked through the playground, along the path and around a turn, and there she was.

Only now do I realize how much I needed this place. A place to come and sit. A place to watch kids run and climb, then pass by Mila and her fox and stop. They reach out and touch her legs, her fingers, the hummingbird's beak, the fox's ears. Each time I visit is different. The lighting, the noises, the passersby who pause and look. I try to imagine the sculpture in decades to come, well past my lifetime and even Azlan's. New children discovering it, climbing on it and adding chapters to the never-ending story of the Adventures of Milabug.