Interested in newborn health? Learn about the GUARDIAN Study!
The GUARDIAN Study is a free research study screening newborns for rare conditions not covered by standard tests. Early diagnosis can help start treatment as soon as possible. Your choice to participate won’t affect standard screening. Your baby’s results are confidential. Sign up after birth or contact the team with questions.
Tilly Collins is in the third year of her speech and language therapy degree, studying at Cardiff Metropolitan University, UK. Collins is interested in hearing your thoughts, opinions and experiences of speech and language therapy as parents of children with KAT6A syndrome.
Your involvement will be a 30-minute casual interview over the phone or a Teams video call. All information given will be confidential and published anonymously. Collins hopes that this study will result in an improvement in the service globally for people with KAT6A syndrome.
Our sixth annual walk event will take place in September. You can choose to participate virtually or attend an in-person walk at select cities. We invite families and friends of individuals diagnosed with KAT6 syndromes to raise awareness during this time. The KATwalk fundraiser is a vehicle that enables everyone to participate at the activity and/or donation level they choose.
Stuttgart, GERMANY (for walk details see team Lilly’s Friends)
Please reach out to Katie Bator at katiekat6a@gmail.com if you have any questions about setting up a virtual walk team.
ORDER A KATWALK T-SHIRT
This year tickets to in-person walks will NOT include a t-shirt. In the spirit of being eco-friendly, we encourage people to wear a shirt from prior KATwalk events. If you do not own a KATwalk shirt, you can order shirts in youth and adult sizes at our shop, which will be shipped to your home address.
PARTICIPATE VIRTUALLY
If you can’t join us in person, we encourage you to register for a VIRTUAL walk! (free)
Choose any date between September 1st and September 30th to walk/run/ride. You can join us from wherever you are by organizing a casual KATwalk for a small group or by participating on your own. You can extend the message and broaden support by joining or creating a fundraising team and sharing this page with your friends and family.
Be sure to share your photos with us on social.
#KATWALK2023
BECOME A FUNDRAISER
We encourage you to create a fundraising page. You can join an existing team or start your own. Invite team members to expand your network to help you reach your fundraising goal. You will need to select the register button to become a fundraiser and follow the steps in your KATwalk 2023 confirmation email.
Please contact Emile Najm if your company is able to sponsor a local KATwalk event. Official sponsors will be included in our communications and printed on event day banners. Email Emile at kat6a@yahoo.com.
This webinar promises an extraordinary opportunity to gain deep insights and understanding from esteemed experts in the field of neurodevelopmental disabilities. Our speakers are leaders in their respective areas of expertise, and their presentations will be followed by an engaging Q&A session.
Allow us to introduce our distinguished panel:
**Dr. David Amor**
Topic: Can we treat intellectual disability?
Affiliation: Murdoch Children’s Research Institute
**Drs. Mara Kenyon and Alice Lockwood**
Topic: What you don’t know about OT: How Occupational Therapy can support motor skill development in paediatric disabilities?
Affiliation: NAPA Centre Australia
**Dr. Tanya Tripathi**
Topic: Empowering Play: Home Based Early Intervention for Children with Physical Disabilities*
Affiliation: Murdoch Children’s Research Institute
To reserve your spot for this transformative webinar free of charge, please click here.
We urge you to register promptly, as this event is just one week away! Don’t miss the chance to be a part of a collective effort to make a tangible difference in the lives of children facing neurodevelopmental challenges.
Join us for this impactful event, and together, let’s create a brighter future for children with rare genetic variations.
Join us for the 5th International KAT6A & KAT6B Conference sponsored by the KAT6 Foundation!
June 8, 2024
890 Elkridge Landing Road, Linthicum Heights, MD, USA
The KAT6 Foundation’s annual conference aims to support individuals and their families living with KAT6A and KAT6B syndromes. With the goal to solidify KAT6A and KAT6B research internationally, this conference will also enable an open dialogue between families, clinicians and researchers.
Before clinical trials can be constructed to treat cognitive impairment in genetic diseases, scientists must first understand the cognitive phenotype of the disease in order to identify potential outcome measures, which has to be applicable across age and severity of cognitive impairment.
Participants ages 5-18 are needed for a new research study aimed to identify the unique cognitive profile of KAT6 disorders. The principal investigator is Dr. Rowena Ng from the Department of Neuropsychology at Kennedy Krieger Institute.
Participants under 5 years old needed for a research study that aims to examine early developmental profile and trajectory of KAT6 disorders. The principal investigator is Dr. Rowena Ng from the Department of Neuropsychology at Kennedy Krieger Institute.
UCLA researchers are seeking individuals with rare genetic disorders and their family members to participate in a research study funded by the National Institutes of Health (NIH) & California Institute for Regenerative Medicine (CIRM).
They will draw blood for laboratory studies of cells. Blood samples will be used to identify disease-associated biomarkers for diagnosis and for future assessment of any new therapies. They will draw 3 vials of blood for this study. All ages may participate. Parents and siblings are encouraged to participate as controls samples for this study.
KAT6A and KAT6B patient-derived induced Pluripotent Stem Cell (iPSC) Bank: Capturing the Spectrum of KAT6 Pathogenic variants
The Serrano Lab at the Center for Regenerative Medicine (CReM) is working together with the KAT6 Foundation to establish the first KAT6A and KAT6B patient-derived iPSC bank. The CReM bank serves as a repository for sharing KAT6A and KAT6B human iPSC lines with internal and external investigators to conduct both basic and translational research.
We are thrilled to announce some exciting networking activities lined up alongside the cutting-edge research and science sessions at the conference. These activities are designed to foster connections and create memorable experiences for all attendees and their families.
Working through ZebraKinder — our KAT6 counterpart in Austria, filmmaker Niko Mylonas has released the new production, “Genetic Defekt.” Coordinated by executive producer (USA) Emile Najm for the KAT6 Foundation and retaining its German title, the production is available in English narrated by our own Katie Bator as well as in its original German.
While the film does touch on the technical aspects of KAT6, it is, in essence, an opportunity to get acquainted with families at home and abroad who live with KAT6A and KAT6B. We of course want to educate ourselves on the ways in which the genetic defect expresses itself in its several variations, but the film centers around the daily lives of those affected.
We see in the film the spectrum from subtle, almost unnoticeable effect to severe impairment, depending on the type of gene anomaly — truncation, missense, deletion, and other variants. We meet Ella in Innsbruck and her advocate-aunt, Monika Rammal. We visit Gianna in Michigan, Samantha in Germany, Will in New York, Warren, Bay, Max, Hadley, and many more. We hear from some of the scientists and parent-advocates we’re familiar with including Dr. Jacqueline Harris, Dr. Angie Serrano, Aimee and Jeff Reitzen, Susan and George Hartung. We visit with the Najm family, who, on behalf of Peter, had the inspiration in 2017 to organize parents in starting a foundation for KAT6 support and research.
In addition to a glimpse into the everyday trials and sweet triumphs of those who live with KAT6, the film lets us spend a poignant few minutes with the parents of Helin, a girl in Germany who fell ill and, although brought to a hospital, did not survive. Her parents share the message to be learned from that tragedy.
While the film points out that the disease is yet rare, it is not new. Nor perhaps is it as rare as was previously thought. And that could be the film’s lasting contribution. Once you’ve seen it, show it to others, speak of it, send it, share it widely. Make it the centerpiece of a gathering or fund-raiser. And make clear that, whenever there is a question of a genetic irregularity in a child, testing is available. Our children deserve the care we can give, and we, as parents and caregivers, deserve the best information.
At 48 minutes in length, “Genetic Defekt” is a tool we have long needed to promote awareness of the adversity that has brought us together.
Picture: Kuno Büsel (left) and Niko Mylonas (right)
We are pleased to announce that on September 28, 2023, the KAT6 Foundation was awarded the Austrian Child Welfare Award, the MYKI-Award 2023 for the film.
Picture: Executive Producer (Austria) Monika Rammal receiving the MYKI-Award on behalf of the KAT6 Foundation.
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The KAT6 Foundation has established a committee to study mortality within our community. It is sobering to realize that there is a need for this. While we are all here to surround and support those burdened with the loss of a loved one, the ultimate objectives for this committee are to guide parents in understanding how best to adjust to KAT6 disorders and to prevent suffering among our most vulnerable members.
As parents we are silently alert for signs that our child is in distress, which can arise due to sickness, physical trauma, or emotion. We watch for the expected discomfort of common illnesses.
A child who is upset may simply be complaining out of selfishness or a violated sense of fairness, and what’s wrong can be easily fixed. When we hear crying or whining, though, especially when children are immature and lack verbal skills, we pay attention to the other ways they communicate.
AN OVER-RIDING CONCERN
Our children with KAT6 disorders must endure the usual childhood ailments, but they (and we) may not suspect less-common possibilities that lurk in the background. Heart conditions and bone frailty are two that have proved common, but one more affliction has been responsible for claiming the most lives among our affected population: bowel obstructions. Over a three-year period we have lost as many as five members of our tiny group to this tragic cause.
Slow motility in the gut — weakness of the muscles that push the contents along — is a common KAT6 disorder. Symptoms of a bowel obstruction are subtle at first and can be mistaken for something else. Obstructions do not readily clear without intervention, and there is no easy test until the situation has become critical.
Many of our kids have a high tolerance for pain and, when in distress, may at first seem merely to be cranky or anti-social. If their sleep patterns are already poor — and that is common — then we may not notice this one more thing contributing to their insomnia.
It is hard to imagine a child’s misery, unable to describe the pain, when we, the care givers who know our children, and the medical providers have not yet even suspected gut pain. And it horrifies us to think that a child can die not understanding why we are failing to do something to ease the agony.
WHAT YOU CAN DO NOW
With the high proportion of deaths due to this one cause, the mortality committee urgently asks parents and caregivers to help. With an eye to preventing the suffering of even one more bewildered and innocent member, the committee needs data, clear, reliable, factual information.
While we await autopsy reports, it is especially important that all KAT6 individuals be entered into the NORD Registry. The more we know about the ways in which KAT6 disorders are manifested the better the Foundation can support meaningful research, support caregivers, and help assure the comfort and well-being of the ones who have brought us all together.
De-identified data in the KAT6A/KAT6B Patient Registry is available to scientists — including medical professionals, geneticists, pharmacologists, nutritionists, and others — who want to study any aspect of KAT6A and KAT6B. The KAT6 Foundation provides funding for many such research projects.
Members of the Foundation and the mortality committee are notified of the loss of a community member only through our support network, not by NORD or any other agent that is properly committed to privacy. Our ability, as a committee of the Foundation, to obtain an autopsy report and other information depends on the willingness of those who are affected and have access to the report and the details of the family’s loss.
Workshop date: June 13th, 5:00-5:45 p.m. EST (USA and Canada)
Presenter: Galilee Damiao, MS OTR/L
Co-Presenter: Maudey Lockwood self-advocate and AAC user
Workshop Description:
Learn about AAC (Augmentative and Alternative Communication) text-based communication options. What is it? Who uses it and how? What is a communication regulation partner? How does text-based AAC fit into a total communication approach. Hear from spellers/typers about their experiences.
Bio:
Galilee is an Occupational Therapist private practice owner with 22+ years clinical experience. Galilee’s practice is dedicated to providing access to communication to nonspeaking, minimally speaking and unreliably speaking individuals through text based solutions. She is a Wellspring Guild trained typing coach (FCT), Trainer in Training, and has expertise in RPM (Rapid Prompting Method) and S2C (Spelling to Communicate). Her background is in sensory integration and DIR FloorTime. She lectures, supervises clinical research and gives workshops. She guides individuals, families, teams and schools through the process of accessing full potential through text. She works through the lens of strength-based client-centered and disability advocacy perspective. Galilee has a spiritual outlook and considers each individual to have unique and vast potential.
If interested in attending this virtual event, send a request for a zoom link to support@kat6a.org
The link is available to members of the KAT6 Foundation group on Facebook.
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May 16, 2023 at 9:00 PM Eastern Time (US and Canada)
Speaker: Christy Baca
About the speaker: Christy is the founder and owner of Texoma Swim Academy serving 5 counties in North Texas and Southern Oklahoma with adaptive swim instruction since 2013. She has been providing aquatic instruction and therapy to children with: KAT6A, ASD, ADHD, apraxia, cerebral palsy, dyslexia, SPD, and visual disabilities. She is a 1996 Graduate from Texas A&M University with a BS in Interdisciplinary Studies specializing in Special Education and Reading Instruction. In addition to aqua instruction Christy has a decade of speaking and published works including Health Education Curriculum. Her passion for education has afforded her opportunities to serve school districts from consulting, teaching, testing, and curriculum research and alignment. Christy is also an Executive Board Member of The Owen Foundation, serving her community to bring awareness and support for families with children on the autism spectrum.
Join us for a virtual event on May 22, 2023 at 9:00 PM Eastern Time (US and Canada)
Speaker: Amy Bergeson
About the Speaker: Amy Bergeson is a Pediatric Speech Language Pathologist and mom to a 3 year old boy with a KAT6B genetic variant. Amy has worked for 18 years in an educational setting for children with complex communication disorders. She will be sharing her experience as both a professional and mom.
If you would like to attend this virtual event, please send a request to support@kat6a.org and we will send you the Zoom link. You can also find the link in our Facebook support groups.
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