Mila's Miracle Foundation to Stop Batten

It's very encouraging to see that more and more countries are understanding the potential for individualized medicines to solve the rare disease global health crisis if the necessary regulatory and reimbursement changes can be made.

Thank you to Japan's Nikkei Biotechnology & Business and Aya Kubota for so thoroughly covering Mila's story, the Rare Therapies Launch Pad, EveryONE Medicines, Inc. and the growing movement to make individualized medicines a mainstream way of treating disease.

1人の少女に創製・投与された核酸医薬、希少疾患のビジネスモデル模索する母親 　Milaさんの存在は、希少疾患の治療にどのような変化をもたらしたのか──。2024年3月13日、Milaさんの母親であるJulia Vitarelloさんが本誌の取材に応じた。JuliaさんはMilaさんが診断を受けた後、2016年12月に非営利組織のMila's Mi...

When Mila started rapidly losing her abilities, I began to see my own brain and body in an entirely different way. It suddenly seemed miraculous that people all around me were capable of lifting their feet to walk, reaching out their arms to grab things, driving cars and navigating busy streets, and feeding themselves by chewing and swallowing pieces of carefully cut food.

For parents like us, Trisha and Chris must take over where Logan and Iris' bodies and brains can't. They pump oxygen into little mouths, strap small bodies into devices to help blood circulate, open tightly clenched hands and massage fingers, and sit both girls in their feeding chairs, tilted back with supportive neck pillows, carefully spooning warm pureed food into their hungry mouths.

All of this because of a little mutation in the wrong place. A genetic lottery that millions like our daughters didn't win.

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Featured Family: .mcaloon
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For most parents, it's the big moments in our kids' lives we hold onto - the first time swimming across the pool, the first soccer trophy, the first piano recital. But for families with children like Logan, Iris and Mila, it's the tiniest moments that bring us the most happiness. A small clenched fist that reaches out for connection, a possible intentional smile, little eyes intensely locked with our own, sending silent love through the air.

Despite the pain and exhaustion, these are the moments for parents like us that make us wake up each day and keep going.

This Is Today: https://www.this-is-today.com/lockard-family

Featured Family: .mcaloon
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Last month's BBC Radio Documentary on Mila's Legacy and individualized medicines went global this week, airing around the world on 'Seriously'. Changing how we treat genetic disease starts with thinking quite differently about drug development - so thank you BBC for spreading the message to an even wider audience.

https://www.bbc.co.uk/programmes/p02pc9qx

BBC Radio 4 - Seriously... Seriously is home to the world’s best audio documentaries. Introduced by Vanessa Kisuule.

Like my son Azlan felt when Mila was alive, Jude often finds himself alone. He was 3 years old when his sisters were born and soon after diagnosed with a rare genetic disease. He leans back and watches as his parents prepare meals and medications, give oxygen, and dress, feed and position his sisters in their therapy equipment.

Jude may never remember life as a typical kid with a typical family. His life is different now, but that's all he knows. He loves his sisters and wants them nearby. His parents want him to feel part of a family, like his friends do, so every few weeks they rally and bring their girls to his soccer game, packing up three children, a double stroller, bag of diapers, water, food, medicines, breathing machines and neck pillows, then unpacking them all when they arrive, carefully positioning the girls and making their way to the field.

At the end of the week, there is no extra energy left in them, but they somehow find it for Jude.

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Featured Family: .mcaloon
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When Mila was diagnosed with Batten disease at 6 years old, her little friends learned about genetic disease the hard way. They surrounded her with love, and a few stood up to race alongside me to raise the money needed for Mila's treatment. I was in awe. Seven years later, Dana Perella and Chloe Quinn are still on their mission, inspired by Mila.

Dana started by baking cookies every week with her family and friends, dragging a wagon full of treats from house to house, telling Mila's story and collecting donations. Her $1000 turned into $70,000 with her GoFundMe page and cookies shipped around the country. She then started a non-profit, Cookies4Cures, and today she has an army of friends who together have baked thousands of cookies and raised nearly $400,000 which funds scientists and work toward treatments for 5 rare diseases.

Chloe started by spending her days with her eyes closed, trying to understand what it was like to be Mila. She raised money by selling special bandaids and birthday cards at her school. And she drew designs of devices she wanted to invent that would help Mila walk and communicate and pitched them to Lockheed Martin. She now presents Batten disease and genetic treatments to her school and spends much of her free time following the science in hopes of one day becoming a geneticist.

These girls are the inspiration behind the ROCK N' RARE event in Boston later this month. They will share their stories together with other rare disease rock stars to the family and friends of those fighting for kids like Mila.

We hope you join us!

TICKETS - https://betterunite.com/rocknrare

For many rare disease parents, we carry the heavy weight of knowing that our children depend on us to keep them alive. Trisha Lockard and Chris Lockard face this for both of their girls, Iris and Logan. They trade off throughout each day and night handling feeding tubes, oxygen machines, seizure monitors and mucus suctions. There is no room for error. They carefully hold their girls, dress them, feed them, put their leg braces on, and soothe them back to sleep. Like I felt about Mila, in many ways children like ours become extensions of ourselves, little bodies and little minds who need us.

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Featured Family: .mcaloon
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https://www.this-is-today.com/lockard-family

Thank you Natasha Loder and The Telegraph for sharing Mila's story and the critical role the UK is playing in proving a model for individualized medicines at scale.

Mila’s legacy: The little girl who could change how medicines are made in Britain Mila Vitarello was just 10 when she died from Batten’s disease. Now, the fight to find a cure for rare genetic disorders arrives in Britain

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.

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I woke up this morning and listened to the BBC's radio documentary on Mila‘s Legacy. As often happens, it felt like I was listening to someone else’s tragic story. I cried in bed. Mila never had the chance to grow up and keep learning, loving and living, but she did have the chance to give a future to millions of other children like her. She didn't sign up for it, but I know it would make her happy.

A huge thank you to the BBC, BBC Radio 4, Natasha Loder and Sandra Kanthal for highlighting how we are turning Mila's story into a new treatment pathway, and to the Medicines & Healthcare products Regulatory Agency, Genomics England, Oxford-Harrington Rare Disease Centre and University of Oxford, and the critical people pushing the Rare Therapies Launch Pad forward.

This is Mila's legacy.

Mila's Legacy - BBC Sounds One mother’s efforts to save her child could start a revolution in personalised medicine.

A big thanks to Genomics England for having me host their podcast, The G Word, on this year's Rare Disease Day. This is an exciting year for Genomics England (and the world!) as their Newborn Genomes Programme is in full swing, sequencing 100,000 babies at birth to inform how newborn screening helps accelerate diagnosis and access to treatments.

The G Word: 'Treating Mila - Lessons for those living with rare conditions'

https://www.genomicsengland.co.uk/podcasts/treating-mila-lessons-for-those-living-with-rare-conditions

Thank you STAT for giving me the opportunity to kick off the Breakthrough Summit in NYC yesterday together with Jason Mast and Fyodor Urnov. Sharing Mila's story and explaining the mainstream potential of individualized medicines with biotech and pharma is an important step toward making this approach a routine way of treating rare disease.

https://www.statnews.com/2024/03/21/crispr-gene-editing-personalized-medicine-batten-disease/

I'm excited to kick off the first ROCK N' RARE IN KENDALL SQUARE next month in Boston - a new twist to a rare disease event! A few of us across some of my favorite organizations are hosting a fun early evening program at the Broad Institute mixing stories by Tim Yu, David R. Liu, Casey McPherson, myself and a few amazing kid stars, with live music by Casey and his Austin band AlphaRev. This event is for all those fighting on the front line for kids like Mila and Casey's daughter Rose, with a special focus on their families and CHILDREN of all ages (encouraged!).

Get tickets before they run out!
www.rocknrare.com

The Broad Institute
Thursday, April 25th, 4:30-6:30pm ET

A huge thanks to our event sponsors: Broad Institute of MIT and Harvard, The Termeer Foundation, Mila's Miracle Foundation, To Cure A Rose Foundation, EveryONE Medicines, Inc., Rare Sisters Batten Foundation, Faber Daeufer & Itrato PC.

(6/6) At the end of Mila’s life, when she could no longer remove a fly from her nose and her brain was losing volume, I was forced to think what Mila would want. A decision no parent should ever have to make.

Like me, Kristen Gray finds herself in the impossible place of having to think for her daughter Charlotte, who has lost nearly all of her abilities and can no longer tell her mother how she feels.

Sleeping with her one-year-old son on the sofa just outside Char’s room, Kristen jumps up and rushes to her daughter’s side numerous times every night to suction the saliva from her mouth and ease her back to sleep.

Each day, despite little to no sleep, Kristen and her husband get back up on their feet and face a full day of school drop-offs and pick-ups, therapies, doctors appointments, and jobs. They do it because they must.

Some mornings, there is a brief quiet moment to reflect, but just like that it’s gone and it’s time to do it all over again.

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Photo Credit - Ulli Bonnekamp
Featured Family -

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.

Photo Credit - Jewel Afflerbaugh

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(5/6) In the last few years of Mila's life, when she woke up in the morning, she would lie in bed and wait until I came in to carry her downstairs. I put my hands on her, hugged her, sang to her so she never felt alone. But I was plagued by the possibility that she felt trapped, confused and scared.

Unlike Mila, Gwenyth Gray still has her vision and occasionally climbs out of bed and crawls down the hallway. She wakes up in the morning and opens her eyes to sunlight and the room around her. Gwen received one of the first gene therapies to the brain when she was just 3 years old, and 4 years later began taking a promising off-label medication. She is able to watch cartoons, use her hands to feed herself and interact with her little brothers. She smiles and she laughs.

In these early years of learning from genetic therapies, those fortunate enough to access a treatment are often searching for other complementary approaches. For even the luckiest of rare disease parents where hope still exists, the fight never seems to end.

This Is Today - https://www.this-is-today.com/photo-journal
Photo Credit - Ulli Bonnekamp
Featured Family -

(4/6) When Mila was diagnosed with a disease I was told was impossible to survive, I immediately wanted another child. But I stuffed that yearning into a box, closed it and pushed it to the back of a dark closet so I could fight for Mila. It was out of sight, but never gone. Toward the end of Mila's life, I reached back into the closet, opened the box and pulled out the longing, burning stronger than ever. Perhaps I wanted another child to fill the hole in my heart that was coming. Perhaps to ensure that Azlan wouldn't be left alone in this world, carrying the pain of what he had lived through. Perhaps to try to bring Mila back.

For better or worse, life as a single mom did not allow me to live my dream. But for parents like me, this decision often comes at an age and time that make having another child seemingly impossible.

Like me, Kristen Gray and her husband navigated this difficult path while at the same time fighting for Charlotte and Gwenyth, their only two children, both with a disease no child had ever survived. When the girls were 6 and 8 years old, they finally had a healthy little boy named Cal, and a year later another, Gavin.

A new life of immense joy with the backdrop of immense sadness.

Another unspoken fight in the lives of families like ours.

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Photo Credit - Ulli Bonnekamp
Featured Family -

(3/6) Mila was my first child. Like other new mothers, my time and energy moved away from taking care of myself to taking care of my baby. I nursed her, I bathed her, I rocked her to sleep. Then she grew and became more independent. She could walk and run and navigate the house on her own. She spoke and told me when she was hungry, tired or sick. She could feed herself, sit on the toilet, climb into her bed and fall asleep alone. But then, around four years old, she started to regress.

Just as I returned to holding Mila's hand again when she walked, cutting up her food into small pieces again and sitting her in a stroller to get through the grocery store, Kristen Gray was doing the same for her first child, Charlotte. Neither of us understood why our daughters were going in reverse. There was no taking care of ourselves. Our girls depended on us more and more by the month.

Our answers came when both of our young daughters were diagnosed with Batten disease and we were told that all they learned they would soon forget.

As months and years passed, our relationship with our girls returned to their infancy where we held them in our arms and carried them around our homes, we changed their diapers now in sizes too large to find in stores, and we wiped the saliva from their mouths as they could no longer lift their arms to do it themselves.

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Featured Family -

(2/6) Gwenyth Gray is 10 1/2 years old. She smiles as her mother gently, but firmly supports her growing body as she takes slow steps toward the living room where her younger brothers await.

Gwen was just 3 when she received one of the first ever gene therapies to the brain which her parents fought day and night to start, raising the funds and putting together the scientists and doctors to pull it off. Some symptoms had already begun, but the hope was it would be in time for Gwen.

Today, Gwen is in a place far better than where she should be given her disease. Fourteen other children with Batten CLN6 were part of her trial which a company took over in order to commercialize it and make it accessible to many more. But the regulatory pathway and financial system weren't designed for biotechs pushing treatments for the small populations of rare disease. And so this medicine landed on a shelf for years, and with it the hope for the next child diagnosed.

For genetic treatments that exist today, we are still learning the most effective dose, route of administration and age to stop each disease in time. In these early years, it is the children like Gwen, her sister Charlotte and Mila who will teach us. It is only with their treatments that we will learn and improve.

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Featured Family - CureBatten Kristen Kaiser Gray
Photo Credit - Ulli Bonnekamp

(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 Kristen Kaiser Gray 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.

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Featured Family - CureBatten Kristen Kaiser Gray
Photo Credit - Ulli Bonnekamp

Since Mila began her treatment nearly 6 years ago, there have only been 10-15 patients treated with an individualized A*O. It was great to share the stage with friends and fellow parents of these few children - Mario Schenkel, Luke Rosen and Yiwei She - at the end-of-year N=1 Collaborative Seminar. Check out the recording below if you missed it!

It's easy to get stuck on the differences between rare diseases, patients, P*s and sponsors, but we parents have a common goal of seeing exponentially more children treated, learning from them and improving, and bridging the gap between patients and the technologies that exist today.

https://www.n1collaborative.org/post/parents-of-pioneers-real-experiences-in-individualized-medicines-today

What an honor to speak in London at Genomics England's Research Summit in a fireside chat with interim CEO Richard Scott on the critical topic of scaling individualized medicines (recording below). A special thanks to Nicola Blackwood and Parker Moss for seeing the enormous potential across rare disease for making this approach mainstream.

The UK’s commitment to proportionate regulation and safe and rapid access to potentially life-saving treatments can get us from Mila to Millions.

Individualised therapies for rare conditions | Julia Vitarello and Rich Scott | GERS 2023 This is "Individualised therapies for rare conditions | Julia Vitarello and Rich Scott | GERS 2023" by Genomics England on Vimeo, the home for high quality…

Today is a very exciting day. The UK government announced in the Autumn Statement by Chancellor Jeremy Hunt, their support for the individualized medicines pilot Mila's Miracle Foundation initiated over a year ago. Thanks to the incredibly innovative Medicines & Healthcare products Regulatory Agency, Genomics England, Oxford-Harrington Rare Disease Centre and The Association of the British Pharmaceutical Industry (ABPI), I have more hope than ever that we can build a scalable pathway from Mila to Millions.

A huge thank you to The Economist and Natasha Loder for following this news with an article explaining the critical role of the Rare Therapies Launch Pad.

"The government is supporting a pilot developed by a consortium including Genomics England, Oxford Harrington Rare Disease Centre, the Medicines and Healthcare products Regulatory Agency, and Mila’s Miracle Foundation to generate evidence on a pathway for new individualised therapeutics in the UK for children with ultra-rare diseases."

Genomics England Press Release - https://www.genomicsengland.co.uk/news/pilot-launched-to-support-children-with-rare-conditions-to-access-personalised-therapies

Special thanks: Daniel O'Connor Parker Moss Richard Scott Nicola Blackwood Tim Yu

https://www.economist.com/britain/2023/11/22/the-worlds-first-pathway-for-individually-designed-drugs

The world’s first pathway for individually designed drugs Britain commits to finding a regulatory route for customised genetic medicines

Oh Mila bug... you would have been 13 this week. I painted a rainbow-colored stone with your name on it and Azlan left it on your sculpture. I drove up the mountain and rode the carousel we loved to ride together, with Gretchen who helped me take care of you by my side. And I walked through the trees, alone, my hand squeezed around my sleeve pretending it was holding yours, and told you out loud what's happening in my life. At night, I snuggled up with your favorite hippo blankie and Olaf the snowman. It was the closest I could come to spending your birthday with you.

has stood out among the rare disease biotechs because of the mission and incredible team that Emil Kakkis has brought together. So it was truly an honor when they asked to dedicate the boardroom at their new gene therapy manufacturing site in Bedford, Massachusetts to Mila.

A big thanks to the entire team for creating a beautiful room with photos of Mila looking out over a forest of trees, just the view she would have loved. Azlan, my dad and I were blown away by the company presentation and manufacturing facility tour. A special thanks to Jessica Riviere, Mindy Walker, Thomas Lauzon, Dennis Huang, Sue Marrichi, Samantha Hensley, Maria X. Flores, Michael Nichols!

Thank you Jessica Kim Cohen and Precision Medicine Online for so thoroughly covering the expanding field of individualized medicines which has grown from Mila's story.

"Even though it wasn't in time for my daughter, it showed what was possible," Vitarello said. "We have the technology to find the underlying genetic cause — in her case, it was a single mutation — and we also have the technology to design a medicine to target that underlying genetic cause."

Collaboratives, Companies Mobilize to Build Momentum for 'N-of-1' A*O Therapies While the number of A*Os administered to patients with ultra-rare diseases has been steadily increasing, there are still uphill battles for their use.

A big thanks to ASCPT, Issam Zineh, Michael Pacanowski, Insoo Hyun and Tim Yu for inviting me to co-write, 'A Multistakeholder Perspective on Advancing Individualized Therapeutics' - my first published paper 🙂

And thanks to the U.S. Food and Drug Administration for responding to my request to convert this article to open-access so it is now publicly accessible! Another step in the right direction of openly sharing.

Paper -

A Multistakeholder Perspective on Advancing Individualized Therapeutics Precision medicine has evolved from the application of pharmacogenetic biomarkers to the prospective development of targeted therapies in patients with specific molecular/genetic subtypes of disease ...

I was honored to receive the Oligonucleotide Therapeutics Society Patient Advocacy award in Barcelona this week. What made this award especially moving was receiving it from Tim Yu who so personally and thoughtfully recognized my role as more than a parent fighting for their child. Without an MD or PhD attached to my name, it often feels that what I bring to this field beyond being Mila's mom is not acknowledged. So thank you, Tim, and thank you, OTS.

The bonus was sharing the stage with Sonia Vallabh who received the other OTS award, and spending the rest of the evening as fast new friends on a similar mission!

Winston Yan David Liu Stefanie Leonard Arthur Krieg David Corey Annemieke Aartsma-Rus

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.

This would never be possible without the amazing artist, Anita Miller.

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