An adorable little girl named Mila Makovec lives just a half hour away from us in Boulder, Colorado. Mila has giant brown eyes, loves chocolate ice cream and singing along to Frozen. Mila is the type of little girl you would see in a grocery store and smile watching her select bananas with excitement. In December 2016, at Children’s Hospital of Colorado, Mila was diagnosed with Battens Disease, a fatal neurodegenerative disorder. Mila’s family’s world was shattered as they scrambled to comprehend the unthinkable: they were going to lose their precious little girl. During that time, I was blissfully 6 months pregnant with twins, baby-mooning with Mark and decorating the nursery.
I naively didn’t know the rare disease world existed and never could have imagined that Mila’s family and my family were destined to collide.In retrospect, I am grateful that I did not know.
Mila’s mother, Julia Vitarello, went through the same diagnostic odyssey as we did with the same dedicated teams at Children’s Hospital of Colorado. Mila and Maxwell were eventually diagnosed by the same astute geneticist and given a similar message. Our babies were diagnosed with a rare neurological disease, there was no existing treatment and the disease was too rare to illicit research interest. We both sat at Children’s with the same sense of shock and denial which quickly turned into action.
Our mothers’ hearts were broken but we didn’t the luxury to dwell because our babies needed us. Time was not our side and protective instincts took hold.
Mila was declining before Julia’s eyes by the time she received the official diagnosis. Mila had lost her vision, required a feeding tube, and began having 30+ seizures a day. Her tiny 5 year-old body had regressed to infanthood. Mila’s situation was truly life or death. Julia relentlessly pursued the creation of a miracle for her little girl and she succeeded. By mid-2017, Julia and a world renowned scientist were developing a gene therapy for Mila that would stop the progression of the disease. She raised $3,000,000 in one year to fund research efforts, all while coping with a very ill little girl and an unaffected infant son. In January of 2018, Mila received the gene therapy.
Within a month, Mila was having fewer, less severe seizures and prayers were answered–the drug was working.
Maxwell was just 10 months old when Mila official received treatment while I was frantically searching for answers. Maxwell looked perfectly fine but nobody could understand why he missed every milestone and couldn’t use his hands. Test results slowly trickled in and the doctors suspected Muscular Dystrophy. The hope I clung to that Maxwell would miraculously catch up faded with each passing day. I felt alone, helpless and afraid. I would wake up hyperventilating out of a dead sleep.
In June 2018, we received Maxwell’s official diagnosis of SLC6A1. I knew nothing about rare diseases and had never heard of Mila. I sprang into action and started grilling the doctors as to what they would do if this were their child. I was inherently aware that I would have to forge my own path and would probably make mistakes, but I had to start sprinting. I asked my doctor if anyone else had been successful and he agreed to introduce me to Julia.
I went home and googled Julia. I began sobbing as I read her story and looked at pictures of Mila.
Their family was just like my family. My emotions were totally raw and I was hesitant to make the call. The last thing this Superwoman had time for was the tears of a frustrated mother, and I didn’t want to worsen her day. But I knew I needed to talk to her. I put in my earbuds and nervously dialed her number. A strong, warm voice answered on the other end–it was my personal hero. Julia explained the scientific process in layman’s terms, prepared me for the millions of dollars I would need to raise and allowed me to cry. She is one of the most authentic and empathetic people you will ever meet, with inner beauty that radiates outward. We became instant friends in a world that few people could ever understand. She has become a much-needed source of strength and has brought me so much hope.
While I wish it hadn’t been rare disease that brought us together, I am proud to call to call her a dear friend.
Before Maxwell was even born, Julia was forging a path forward for every child affected by rare disease–a world that is small by definition but big in terms of importance. The meaning of the cliché “standing on the shoulders of giants” means “discovering truth by building on previous discoveries.” It would be impossible for me to have made as much progress as I have if Julia had not come before me. It is difficult to conceptualize the massive impact that Julia and Mila have made on this world. Their story is featured in the New York Times this week and I urge everyone to read this journey: NYT. If you don’t have a subscription, here is a link to Stat News Stat News. The article has expanded across 25 papers spanning 8 countries in just one week.
It is because of the Julia Vitarellos of this world that Maxwell has hope and children with SLC6A1 have a chance at life.
My hope is that someday I can be another mother’s Julia. It is Julia’s birthday today…she is such a gift to the world.
Harriet Renner · October 18, 2019 at 12:09 am
What a wonderful story. Some day you will have someone who will be blessed with Maxwell’s healing. I pray for you and your precious family. I dearly love having you as a special friend. Much love to you, Amber, and your family. Love, Harriet Renner