Published in 2018 is a consensus based approach for the myotonic dystrophy patient community. This gives general guidelines on how to approach, test and intervene in patients lives to achieve the most optimum outcomes.
Care-recommendations-for-adulats-with-Myotonic-Dystrophy
This is a new consensus based article. It was written by 11 experts in the field of myotonic dystrophy and gives a good basic review of how to approach the families that have congenital myotonic dystrophy.
Concensus-based-care-recommendations-for-Congenital-Myotonic-DystrophyMany couples in which one partner has myotonic dystrophy want to have children. There is a study that looks at pre-Implant diagnosis here the threat of the disease is eliminated. This is a good route for many couples. If universal education were available it may be possible to greatly reduce this disease.
Preimplant-Study-Pregnancy-Myotonic-DystrophyWe were saddened to hear of the Death of Kayla who was brave and choose to be the face of this disease. She warmed everyones heart, now the hearts are a little colder.
KAYLA MICHELE VITTEK
July 28, 2005 – April 9, 2019 Resident of Santa Cruz, CA
Kayla Michele Vittek, a beautiful, bright and deeply cherished 13 year-old girl, died peacefully in her sleep in the early morning hours of Tuesday, April 9, 2019. Kayla lived with her mother, Lisa Michele Harvey-Duren, her step-dad Paul Duren and her ten year-old sister in Santa Cruz.
Kayla embraced those that she trusted with her whole heart. For those special people that she let in, she showed a side of herself that not everyone got to see. She had a great sense of humor, she was gentle, kind, empathetic and she genuinely loved life. Kayla loved showing her affection by planting gentle kisses on her loved ones faces. She also gave the most amazing hugs. She loved to dance and adored music from an early age. She especially loved the music of Eric Hutchinson and wouldn’t go to sleep at night until we played his songs. Kayla has blessed our lives and her spirit will live on forever in our hearts.
Kayla was born at Sutter Memorial Hospital in Sacramento, California in 2005. She began her early intervention and education in Rocklin, CA, and transferred to the Soquel Union School District in Santa Cruz County in Kindergarten in 2011. She attended Soquel Elementary School, followed by almost three years at New Brighton Middle School, where she excelled academically thanks to the devoted care of her academic aides and teachers. Despite physical challenges, speaking problems due to the disease and hypersensitivity to sounds, she made the honor roll at New Brighton every semester and was just two month away from graduation and advancement into high school. Kayla loved to read and especially loved science and humanities. Her unexpected success in all facets of her life was miraculous considering the severity of her disease. She was not expected to survive her first year, nor to ever walk or talk. During her final year at New Brighton, she was invited to participate in the student council.
Despite her difficulties with mobility, Kayla loved sports, beginning at age three with horseback riding (hippotherapy) at Ride-To-Walk, and continuing with baseball and soccer from age 7. Kayla played baseball in the challenger league with the Angels, a team made up of individuals living with disabilities. Kayla’s father Jeff loved playing baseball with Kayla on their visits together. In their first game of this season, the weekend after Kayla passed, the Angels had a moment of silence in memory of Kayla and then played her walk-up music, Brave by Sara Bareilles. Kayla participated in Ride-A-Wave and Day at the Beach over the past 6 years. She participated in Day of Discovery snorkeling program at Monterey Bay Aquarium for the past few years. She was a recipient of Make-a-Wish Foundation gift to travel to Hawaii with her family in 2016. Kayla’s favorite event every year was by far MDA camp for kids living with muscular dystrophy. Kayla attended this camp since the age of 6 and with her very special friend Kali for many years and then this past year with Kali, Zoe and Cambry who all live with DM1.
Kayla faced a life-long struggle with congenital myotonic dystrophy (DM1), the most prevalent form of muscular dystrophy. Under the care of her mother and her medical team at Lucile Packard Children’s Hospital at Stanford, led by the chair of the Neuromuscular Department, Dr. John W. Day, MD, PhD., Kayla flourished. She became known throughout the global community of DM patients and caregivers through her blog, www.cureforkayla.com as many newly diagnosed patients would find Kayla’s story of hope and would reach out to us. Because of Kayla’s struggle, her mother Lisa helped to found and became the founding executive director of the Myotonic Dystrophy Foundation (MDF), which funds research into this genetic disorder and provides support to families living with this disease.
Kayla appeared regularly in news stories and on television over the past 13 years and she and her mother were spokespeople and strong advocates for DM. Kayla was named the Youth Ambassador for Easterseals Superior California in 2006 and her story was aired on the Sacramento news. Kayla’s story was updated every year on the Sacramento Muscular Dystrophy Association (MDA) Jerry Lewis Telethon from 2006 to 2008 and she was the 2009 face of myotonic dystrophy on the National MDA Jerry Lewis Telethon where she appeared with her father Jeff and her mother Lisa. In 2014 Kayla and Lisa testified in Washington D.C. in a Congressional hearing in support of the reauthorization of the MD-CARE Act which was eventually granted. Kayla participated in a longitudinal research study of congenital myotonic dystrophy patients every year for the last five consecutive years at the University of Utah. Kayla also participated in research at Stanford University. Kayla was about to begin a clinical trial at Stanford for a new drug that improves executive functioning. These are just a few of her accomplishments in her short life.
Kayla was predeceased by Robert and Patricia Vittek, paternal grandparents; June Hull Ferguson, great aunt; and Stephen Harvey, maternal uncle. She is survived by her other family members, who mourn her loss and cherish her memory: Lisa Harvey-Duren, mother; Jeff Vittek, father; Paul Duren, step-father, and her sister; Jane Hull Harvey and Rev. Pharis Harvey, maternal grandparents, Dr. Kathryn Harvey, maternal aunt, Christopher Harvey and Roxanne Ward Zaghab, maternal uncle and aunt; Mitch Vittek, paternal uncle; Rich and Sue Vittek, paternal uncle and aunt; Daniel Harvey, Noelle Pruett, Maya Pruett, Kathryn Harvey, Brenan Batten, Logan Batten, Andie Lee Batten, maternal cousins; Shelby Vittek, Lindsay Vittek and Sarah Hollenback, paternal cousins.
There will be a Celebration of Life of Kayla Michele Vittek at Aptos United Methodist Church on Saturday, April 27, 2019 at 11:00 a.m.. Please RSVP for the event or the live stream.
In lieu of flowers, please consider making a donation to either the Muscular Dystrophy Association or the Myotonic Dystrophy Foundationand note in the memo: Kayla Vittek memorial fund.
Please leave messages for Kayla’s family in the comments below.
Special Focus on CRISPR: CRISPR on the moveSeptember 2017by Jeffrey Bouley | Email the authorEDIT CONNECTSHARING OPTIONS:
Special Focus: CRISPR Gene EditingCRISPR on the moveGene-editing technology continues to evolve In the relatively short time since gene editing involving clustered regularly interspaced short palindromic repeats (CRISPR) arrived on the life-sciences scene—most particularly in the handful of years since we got CRISPR/Cas9 and a much more simplified editing process—the technology has seen its ups and downs with regard to how safe, specific, efficient and reliable it is. But there is no doubt the technology continues to advance and almost certainly will hold a key position in the genomics arena for a long time to come. Germany’s Merck KGaA (not to be confused with U.S.-based Merck & Co.), for example, recently developed an alternative CRISPR genome editing method that it says makes CRISPR “more efficient, flexible and specific, giving researchers more experimental options and faster results that can accelerate drug development and access to new therapies.” Merck KGaA calls the new technique proxy-CRISPR and maintains that it provides access to previously unreachable areas of the genome. Most natural CRISPR systems, found in bacteria, cannot work in human cells without significant re-engineering, the company notes; however, proxy-CRISPR is said to provide a simpler and quicker method to increase their usability without the need to re-engineer native CRISPR proteins. “With more flexible and easy-to-use genome-editing technologies, there is greater potential in research, bioprocessing and novel treatment modalities,” said Udit Batra, a member of the company’s executive board and CEO of its Life Science unit. “As a leader in genome editing, Merck’s new technology is just one example of our commitment to solving challenges in the genome editing field, and we will continue to make CRISPR research a priority.” The company has filed several patent applications on the proxy-CRISPR technology, just one of several CRISPR patent application filings made by the company since 2012. Merck’s research on proxy-CRISPR, “Targeted Activation of Diverse CRISPR-Cas Systems for Mammalian Genome Editing via Proximal CRISPR Targeting,” was published in the April 7, 2017, edition of Nature Communications. The new technology is a follow-on to Merck’s existing CRISPR applications, and the company’s next suite of genome-editing tools for the research community—planned for launch later this year—is expected to include novel and modified versions of Cas and Cas-like proteins. More progress on the RNA front Researchers in the medical school at the University of California, San Diego (UC San Diego) in a 2016 study repurposed the CRISPR/Cas9 technique to track RNA in live cells in a method called RNA-targeting Cas9 (RCas9). In a new study, published Aug. 10 in Cell, the team took RCas9 a step further, using the technique to correct molecular mistakes that lead to microsatellite repeat expansion diseases, which include myotonic dystrophy types 1 and 2, the most common form of hereditary amyotrophic lateral sclerosis and Huntington’s disease. “This is exciting because we’re not only targeting the root cause of diseases for which there are no current therapies to delay progression, but we’ve re-engineered the CRISPR/Cas9 system in a way that’s feasible to deliver it to specific tissues via a viral vector,” said senior author Dr. Gene Yeo, professor of cellular and molecular medicine at UC San Diego School of Medicine. Microsatellite repeat expansion diseases arise because there are errant repeats in RNA sequences that are toxic to the cell, in part because they prevent production of crucial proteins. These repetitive RNAs accumulate in the nucleus or cytoplasm of cells, forming dense knots, called foci. In this proof-of-concept study, Yeo’s team used RCas9 to eliminate the problem-causing RNAs associated with microsatellite repeat expansion diseases in patient-derived cells and cellular models of the diseases in the laboratory. There is still a ways to go before RCas9 could be tested in patients, though, Yeo acknowledged. One bottleneck is efficient delivery of RCas9 to patient cells, as the non-infectious adeno-associated viruses that are commonly used in gene therapy are typically too small to hold Cas9 to target DNA. Yeo’s team made a smaller version of Cas9 by deleting regions of the protein that were necessary for DNA cleavage, but dispensable for binding RNA. “The main thing we don’t know yet is whether or not the viral vectors that deliver RCas9 to cells would illicit an immune response,” he said. “Before this could be tested in humans, we would need to test it in animal models, determine potential toxicities and evaluate long-term exposure.”
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