eMila was born 10 years ago in Boulder, Colorado to an adoring mother named Julia Vitarello. Beautiful and energetic from the start, Mila was a little girl whose personality drew others in naturally. Even as a three-year-old, she used her captivating smile, repertoire of Frozen songs and her soft touch to charm an entire flight of people on an airplane, delighting fellow passengers and making new friends out of them all. Family and friends often wondered what Mila would do with the gifts she had been given in life. No one would have imagined that she would permanently change the world in just ten years.
In December of 2016, a 6-year-old Mila was diagnosed with Batten Disease, a rare and fatal genetic condition. By the time of her diagnosis, Mila had already lost her sight and was starting to lose her ability to walk and even talk. Suddenly, things that Mila had once found funny no longer made her laugh. She could no longer run through rows of vegetables as she explored a farm with her mother, nor could she shake her hips side-to-side as she belted out a favorite song. Unable to give Mila’s mother any hope, the doctors told Julia that her daughter was dying.
But that was not an option for Julia.
Instead, Julia began Mila’s Miracle Foundation (MMF), raising nearly $5 million in grassroots efforts from over 6,000 supporters. Meanwhile, a committed neurologist named Dr. Timothy Yu designed a drug specifically made for Mila’s unique genetic mutation. Drug development typically take several years before a new therapy can even make it into clinical trials. But Mila had made it from diagnosis to customized therapy in just over a year. The achievement was a scientific miracle and Julia’s mother had spearheaded the efforts to make it all possible, not in spite of the fact that she was also Mila’s mom and caregiver, but because of it. Julia never veered from her role as mother and caretaker, even as she took on the enormity of working towards a treatment for Mila.
Initially, Mila’s disease stabilized. Her seizures subsided, her eyes became bright again and she was even able to say the word, “mom.” But Batten Disease is relentless, and Mila’s condition had progressed too far by the time she was able to receive treatment. Despite all the efforts, Mila declined precipitously and was in tremendous pain. In February of this year, Mila bravely released herself from her body so she could go to a place where she could leave behind all her pain, confusion, and troubles and run as boundlessly as a jaguar. She is now at peace.
Though Mila is gone, the effects that she had on medicine will be felt far into the future. Mila’s personalized treatment set a new precedent with the U.S. Food and Drug Administration (FDA), and in drug discovery in general. Prior to her, the FDA had only allowed existing drugs to be repurposed for seriously ill patients who had no other options. No one had ever used that path to test a brand-new drug created for a single patient. But because of Mila, that is now possible. Science textbooks and medical journals going forward will share the story of the young girl who not only changed our hearts, but who altered the trajectory of modern medicine.
Knowing this, however, does not make the loss of Mila any less heartbreaking. Having been introduced to Julia through the doctor at Children’s Hospital Colorado who had diagnosed both Mila and Maxwell, Julia and I have since become dear friends and it is not an exaggeration for me to say that she is my personal hero. The day that Mila passed, I sat with Julia, knowing that there were no right words to say. I only hoped that I would be able to embrace her in a hug in the right moment as we looked around us at all of Mila’s things, unable to imagine a world without her.
Mila’s passing has shattered the rare disease community with a palpable grief. It is impossible not to internalize the loss of a member of the rare disease community. We are all fighting a very uphill battle for our kids and we become extremely close with one another. When the battle ends for one of us, it is a terrible reminder that it could have ended for any of us. It also gives us a moment of self-doubt. We worry what will happen if we are unsuccessful in developing therapies and we wonder if the time we have spent working towards a treatment for our children could have been better spent. There is no clear-cut winning path for us. We often question nearly every decision we make. Ultimately, the emotional and physical cost of fighting rare disease is immeasurable.
Winston Churchill once said that success is going from failure to failure without loss of enthusiasm.
This quote resonates with me because is the essence of rare-disease parenting. We are grieving with every ounce of our body today and questioning our resolve, but we will wake up again tomorrow with an even greater sense of determination to help our children. None of us asked for this job, but what choice do we have? How do you look at your innocent child and not say you tried everything possible to help them? This is the fight of our lives.
Thank you all for reading this blog and believing in SLC6A1 Connect’s vision—there will never be another Mila or Maxwell.
[Originally posted on SLC6A1 Connect]