August 2024 Newsletter
The Lajaunie Lab Tour
A few weeks ago, Mitchell-kid Michael Lajaunie (pronounced LAW-juh-nee)—along with his parents and sisters—got an up-close tour of the laboratory of Wash-U neurologist Dr. Timothy Miller, located in the newly opened Neuroscience Building in St. Louis. Michael, who lives in Katy, Texas, has been battling Mitchell Syndrome for several years, but is doing well with therapy, cochlear implants, and recommended treatments. He’s even getting ready to head off to Texas Tech for college next month. (Go Red Raiders!)
Michael was in St. Louis for a checkup with the adult neurology team. While he and his family were here, Dr. Miller graciously showed them around the lab, where researchers are making good progress on ASO (antisense oligonucleotide) therapies for Mitchell Syndrome. For their part, the researchers were honored to meet one of the patients for whom they are working so diligently. There are only 31 identified persons with Mitchell Syndrome—alive and deceased, around the globe—so it was a good and rare opportunity to meet one!
Wash-U’s new eleven-story, 609,000-sf building is one of the largest in the world. Even with this big, beautiful building, research funding is hard to come by, and the Miller team is being generous with their resources to serve Mitchell Syndrome families in this way. The Mitchell and Friends Foundation is grateful to THEM for their generosity and skill. And we are grateful to YOU for supporting this research and these families. Together, we can defeat the rarest of rare diseases--so that kids like Michael have a chance to live out their college dreams.
SPECIAL THANKS to Dr. Tim Miller at The Miller Laboratory; Dr. Kathleen Schoch and Dr. Zita Hubler, neuroscience researchers; Jesse Markway and Bethany Gannon, clinical researchers; and Dr. Salena Cui, neurology resident, all of whom took time out of their busy schedule to host Michael’s family and assist with the tour. Also seen on the tour are Michele and Miranda Herndon, the mother and sister of Patient #1.
Meet Andrea
Andrea is one of the earliest diagnosed cases of Mitchell Syndrome. We met her and her family over Zoom in 2021. (They live on the west coast.) Andrea's been featured on our "Familes" page on the website for a while (click HERE), but recently sent an update. With a wonderful family, the support she's getting from Mitchell and Friends, and medical guidance provided by our Scientific Advisors, Andrea's doing great and is excited about her future. But let's hear it from her:
"My name is Andrea and I am currently 22 years old. Even though Mitchell’s syndrome is genetic, I only started showing major symptoms when I was 13 and stopped being able to walk, and lost my sense of proprioception. I was stable for a few years, but my health took a nosedive in 2020 when I lost my hearing, ability to eat, and ability to see very well, among other things. Thankfully, I have recovered since then and am stable today. Despite it all, I’ve always pushed through life and have continued my studies and hobbies. I’m pretty resilient and find happiness in indulging my interests, such as funky electronic music and anime! My main goal is to graduate from UC Berkeley, get a master's degree, and go out more! I plan to become a journalist and spread awareness of current issues, including Mitchell’s syndrome."
"All of this couldn’t have been possible without the support of my family (including Kira, my cat) and friends, as well as the presence of the community surrounding Mitchell’s Syndrome patients. They have all helped me out of my slumps and be able to move forward. The diagnosis of such a rare genetic condition feels isolating, but Mitchell and Friends gives me a sense of solidarity and understanding I can’t get anywhere else. Thank you, Mitchell and Friends Foundation!"
We're so grateful to know Andrea and have the chance to be a part of her story. We're grateful for your support of people like Andrea, as well. Your support is making a difference.
You’re Invited to the 2024 Mitchell and Friends Trivia Night - Rare Things Edition!
THERE’S STILL TIME TO REGISTER FOR THE 2024 MITCHELL AND FRIENDS TRIVIA NIGHT (RARE THINGS EDITION) at the Moolah Shrine Center in West County St. Louis, on Saturday, Sep. 7, 2024. In recognition of Mitchell Syndrome, the rarest of rare diseases, the evening will feature eight trivia rounds of "Rare Things": rare objects, rare feats, rare conditions, rare phenomena, rare music, and rare, never-before-seen footage of Mitchell Herndon, Patient #1.
Reserve a table for your team of eight, sponsor a table and/or round, or donate your auction and raffle item. Visit our EVENTBRITE PAGE or go to our WEBPAGE for more information. All proceeds of this event go towards our fundraising goal of $120,000 for support of families with Mitchell Syndrome, and research into possible treatments for this deadly and rare neurological disease.
CLICK THE PIC BELOW OR HERE FOR A SPECIAL TRIVIA NIGHT VIDEO INVITATION FROM MATT AND MICHELE HERNDON … AND THEIR DOG.
