Launched last year, the KBG syndrome Natural History Study and Patient Registry is an IRB-governed project aimed at aiding research and providing patients with a resource to track their own healthcare needs. If you have #KBGsyndrome join today! kbgfoundation.org/kbg-syndro…
Let's TalKBG: learn about the KBG syndrome Natural History Study with #AcrossHealthcare CEO, @jasoncolquitt and #KBGfdn Chairman of the Board, Glenn Maughan. @daylightnerd
#KBGRegistry #KBGNHS #KBGsyndrome #everylinkmatters #KBGfdn #AcrossHealthcare.
youtu.be/t1jv7uV9qXo?si=cMYc…
Exciting work and thrilled that the @KBGFdn played a part in funding this valuable research! Blessed that so far our son does not show any heart defects or issues. #KBGsyndrome has ruled our lives but not our living! Thank you @AMVoronova et al!
I am super excited to share our paper published today in @NatureComms! Have you heard about heart-brain axis? Here we asked why heart defects are prevalent in children with neurodevelopmental disorders, such as the rare KBG syndrome. rdcu.be/dMm5w 1/9
Already ordered ours. And I need to point out: @Tay_Maughan designed the graphics by hand in a matter of minutes. This kid. No clue where she picked this talent up, the universe likes her. Hates me, likes her. ;)
#KBGsyndrome #KBGDay2024 #KBGfdn
#KBGDay2024 shirts are now on sale. Order yours today!
store.kbgfoundation.org/
#KBGfdn #KBGawareness #KBGSyndrome #everylinkmatters
What a great time! I'm so proud of our children for presenting. We set it up and they jumped in. I only had to answer the KBG questions (which were plenty). :) Magnets man. Magnets.
The @KBGfdn is pleased to have attended the #rockvillescienceday held by @rockvillesci presenting “Rare Attractions: The Magic of Magnetism”. Raising rare disease awareness one attraction at a time!
#kbgsyndrome #kbgfdn #everylinkmatters #rockvillescienceday
I wear purple for Bug and for all my lovely friends who have seen too many, and felt their world shift because of, seizures.
March 26th is International Epilepsy Awareness Day. Approximately 40% of people with KBG syndrome experience recurring seizures. We invite you to wear purple on the 26th to show your support for families living with epilepsy.
#KBGsyndrome #KBGFdn #everylinkmatters #purpleday2024
It was a complete joy to attend RDD at the NIH on behalf of people living with KBG syndrome. The amount of zebras there...dazzling. Thank you to all that supported!
#ThankYou #RareDiseaseDay #RDD2024 #KBGsyndrome #everylinkmatters #KBGfdn
Thank You to all that supported Rare Disease Day in honor of someone they know living with a rare condition. Never before have so many people raised their voices and their lights to say they see us! We see you too!
#ThankYou #RareDiseaseDay #KBGsyndrome #everylinkmatters #KBGfdn
Annette Maughan retweeted
Diagnosis are occurring earlier and earlier in a patients life. While the average time to diagnosis is still around 7 long years, most KBG-affected individuals are diagnosed under the age of 21.
#KBGsyndrome #RareDiseaseDay #RDD2024 #KBGfdn #everylinkmatters
Annette Maughan retweeted
Since 2011, the diagnostic criteria for a diagnosis of KBG syndrome means testing for variants in ANKRD11.
Learn more about ANKRD11 at medlineplus.gov/genetics/gen…
#KBGsyndrome #rarediseaseday #rdd2024 #KBGfdn #everylinkmatters – at Manchester, MD
Annette Maughan retweeted
KBG syndrome isn't just rare....it's ULTRArare.
#KBGsyndrome #RareDiseaseDay #RDD2024 #everylinkmatters #KBGfdn
The KBG Foundation is giddy to announce that we will again be representing KBG syndrome at the NIH on Rare Disease Day with a poster AND a table! Registration is still open:
registration.socio.events/e/…
See you there!
#KBGFdn #RDD2024 #RareDiseaseDay #KBGsyndrome #everylinkmatters
Annette Maughan retweeted
Rare Disease Day is a week away! Show your support by printing this support pledge, take a picture of you holding it and share it far and wide!
What other ways will you show your support this year?
#RDD2024 #RareDiseaseDay #KBGsyndrome #everylinkmatters #KBGfdn
The KBG Patient Registry is an IRB-governed Natural History Study of the KBG population aimed at creating the most in-depth cross-section of information about this genetic disorder to date. Leading to improved quality of life and eventually a treatment. #KBGregistry #KBGsyndrome
Participated in the @KBGfdn Natural History Study? Open to anyone with a confirmed diagnosis and aimed to create the most in-depth cross-section of information about KBG to date. Learn more, sign up: tinyurl.com/KBGRegistry
#KBGregistry #KBGsyndrome #everylinkmatters #ANKRD11
Annette Maughan retweeted
@KBGFdn has awarded a 2023 Seed Funding Grant to @drkarenlow and @AllanBayat. They will work with the Foundation to study quality-of-life issues for adults with KBG syndrome. Congratulations! kbgfoundation.org/news-pr-lo…
#raredisease #KBGresearch #ANKRD11 #KBGfdn #everylinkmatters
Wonderful news! @AMVoronova let us (@KBGFdn) know how we can help!
Research provides hope and action to our KBG population. Do you have research about KBG syndrome that would would like to present at the scientific meeting in July 18? Get your abstract in by June 18! lnkd.in/gC3ZNsgz
Are you a researcher or clinician with an abstract for your KBG syndrome work? Submit it for inclusion in the July 18th virtual scientific meeting for KBG syndrome. Submissions accepted until June 18th. lnkd.in/gC3ZNsgz
Join me May 25 at #WorldOrphanUSA for my Roundtable: "Legislation & Advocacy - discussion on how parents can impact state legislation."
Learn how to take a poorly understood subject and turn it into an achievable goal.
bit.ly/2ORHrja
#KBGsyndrome #RareDisease #KBGfdn
Annette Maughan retweeted
Wishing you the peace, joy and renewal of this spring season.
#everylinkmatters #KBGsyndrome #KBGfdn #love #peace #joy #renewal
A true labor of love. And it’s super cute.
There many ways to raise #rarediseaseawareness. Our own KBG Foundation Board Members donated their time and effort to bring this Zebra to the Carroll Arts Center #peepshow fundraiser.
Votes can be purchased online at MarshmallowPEEPshow.com
baltimoresun.com/maryland/ca…
Our son's first diagnosis was Autism. For years all of his symptoms were attributed to that single word: it's Autism. But oh, how it was so much more. Look beyond the labels. See the person.
#WorldAutismAwarenessDay #KBGsyndrome #KBGfdn #everylinkmatters
In 2008, @UN declared April 2 World Autism Awareness Day. In KBG about 30% are also diagnosed with autism. Learning more about both these spectrums, we imagine and work toward a truly neuro-inclusive world. Read about ASD in KBG: nature.com/articles/ejhg2014…
#WorldAutismAwarenessDay
Ava says: Vote the rainbow. :)
Voting starts now! Use the link to vote once a day on your favorite design until March 31. The design with the most votes becomes our official 2023 KBG Syndrome Day t-shirt! Thanks & good luck!
poll.app.do/kbg-awareness-t-…
#KBGTShirt #Contest #KBGsyndrome #KBGfdn #everylinkmatters
