Julia Vitarello’s Post

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. This Is Today - https://lnkd.in/dUUzDFB Photo Credit: Ulli Bonnekamp Mary Saladino - For Henry AHC Anthony Saladino

Thank you Inside Precision Medicine and Laura Cowen for the incredibly thorough and well written article focused on the need to build a bridge between rare disease patients and the technologies that could help them, irrespective of the number of patients who could benefit from a single medicine. In my mind, I see millions of children with rare diseases on one side of the Grand Canyon and an increasing number of technologies able to treat them on the other side. There are really only two bridges to reach the treatments - a large highway you're only allowed to cross on buses reserved for large groups of patients with the same commercially viable disease, or a small rickety bridge only few highly motivated parents and similarly motivated physicians or organizations capable of raising millions of dollars can barely make it over. Most children like Mila will never be able to cross either bridge. So we must build a new appropriate one. This is the goal of the Rare Therapies Launch Pad we are pushing forward in the UK - a new bridge to access, changing what regulatory and reimbursement look like to meet the new paradigm of individualized medicines at scale. Medicines and Healthcare products Regulatory Agency, Genomics England, Oxford-Harrington Rare Disease Centre and University of Oxford, EveryONE Medicines, Inc., Department of Health and Social Care, The Association of the British Pharmaceutical Industry (ABPI) Mila's Miracle Foundation Daniel O'Connor Parker Moss Matthew Wood Nicola Blackwood Matthew Brown Tim Yu Richard Scott Dr Charlotte McIntyre Viji Ajith Jenny Taylor Irina Antonijevic MD PhD Deb Gouveia Andrew Roddam Deb Lancaster Carlo Rinaldi Laurent SERVAIS Katherine Bainbridge Christopher S. Nessan Bermingham https://lnkd.in/gVxKvx9r

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. https://lnkd.in/gVAnbKBV

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. This Is Today - https://lnkd.in/dUUzDFB Photo Credit: Chelsey Grant Trisha Lockard Chris Lockard

In many ways, Mila's story flipped drug development on its head - instead of one drug for thousands, we now see a future of thousands of drugs each for one or a few. But getting there will depend on significant change in regulatory and reimbursement. A big thanks to the The Wall Street Journal and Brian Gormley for highlighting the pioneering role that EveryONE Medicines, Inc., the biotech I co-founded, is playing in creating a viable business model for individualized medicines like milasen. Without this, the responsibility and risk will continue to fall solely on academic researchers, families and non-profits and access at scale will be nearly impossible. My hope is that EOM's hard work to address the regulatory and reimbursement barriers spurs a new marketplace and collaborative academic-industry model, leading to exponentially more children like Mila being treated. Khosla Ventures GV (Google Ventures) Third Rock Ventures Nessan Bermingham Irina Antonijevic MD PhD Deb Gouveia Tim Yu Andrew Roddam Nicole P. Ouellette Issi Rozen Anthony Philippakis Walter Kowtoniuk John Keilty Barbara Douglas Srinivas Chunduru Rachel McMinn

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://lnkd.in/dUUzDFB Photo Credit: Chelsey Grant Trisha Lockard Chris Lockard

The Rare Therapies Launchpad is looking for a Programme Manager in the UK to help lead this ground-breaking pilot on individualized medicines. We are in search of a dynamic leader who is excited about the opportunity to shape a new pathway of access to genetic medicines, setting a world's first model. This person should have experience in drug development, ideally with the regulator, academia, industry and/or the payer, and be able to run and coordinate the internal work streams. This is a great opportunity to work with organizations including Genomics England, the Medicines and Healthcare products Regulatory Agency, the Oxford-Harrington Rare Disease Centre, the Department of Health and Social Care and others. The job will start within Genomics England, with the chance of continuing on in our new organization. Job description below. Apply as soon as possible!

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://lnkd.in/gF3q4im9 Tim Yu Daniel O'Connor Parker Moss Matthew Wood Richard Scott Nicola Blackwood Dr Charlotte McIntyre Viji Ajith Deb Lancaster Irina Antonijevic MD PhD Deb Gouveia Andrew Roddam Jenny Taylor Matthew Brown Ana Lisa Taylor Tavares Carlo Rinaldi Laurent SERVAIS Julie Stevens Katherine Bainbridge Christopher S.

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. This Is Today - https://lnkd.in/dUUzDFB Photo Credit: Chelsey Grant Trisha Lockard Chris Lockard