KBG Syndrome

KBG Syndrome is an ultra rare syndrome identified by a mutation in the ANKRD11 gene. 1 in 19 Million baby! This account is maintained by the KBG Foundation.

[KBG Foundation @KBGFdn]

Caregiving isn’t just about love — it’s about strength, patience and showing up every single day. 💜Meet Marion who reminds us why every act of care is an act of courage.
https://t.co/Gf3FapPAtU
#StoriesOfStrength #KBGFdn #CaregiverMonth #EveryLinkMatters #RareVoices #KBGsyndrome

[KBG Foundation @KBGFdn]

Caregivers hold families together through courage and compassion. This month, we honor you. 💙#CaregiverMonth #StoriesOfStrength #KBGsyndrome #KBGfdn

[KBG Syndrome @KBGSyndrome]

Have you joined the KBG syndrome Patient Registry and Natural History Study powered by #Matrix? Learn more on "Let's TalKBG" and join at: https://t.co/kXmYrAQa5e

[KBG Foundation @KBGFdn]

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.
https://t.co/VBTQBFVpCb

[KBG Syndrome @KBGSyndrome]

Join the registry! Be seen!

[National Organization for Rare Disorders (NORD) @RareDiseases]

The @KBGFdn invites patients to join the #KBGSyndrome natural history study. This study will help researchers learn more about #KBG and find a potential treatment! https://t.co/AcZdlhmaP2

[KBG Syndrome @KBGSyndrome]

Wow!

[KBG Foundation @KBGFdn]

“Now what?” It’s the question many parents ask. Well, we are answering that! Members of the KBG Foundation Board, Scientific Advisory Board and other experts are developing international consensus guidelines for KBG syndrome.
#KBGsyndrome #KBGresearch #KBGfdn #everylinkmatters

[KBG Foundation @KBGFdn]

Happy #KBGDAY2024!
Show us your day!
#KBGsyndrome #MeandKBG #Dayinthelife #KBGfdn #everylinkmatters

[KBG Syndrome @KBGSyndrome]

Thank you!

[KBG Foundation @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

[KBG Foundation @KBGFdn]

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

[KBG Foundation @KBGFdn]

Since 2011, the diagnostic criteria for a diagnosis of KBG syndrome means testing for variants in ANKRD11.

Learn more about ANKRD11 at https://t.co/datnVZgSeR

#KBGsyndrome #rarediseaseday #rdd2024 #KBGfdn #everylinkmatters

[KBG Foundation @KBGFdn]

KBG syndrome isn't just rare....it's ULTRArare.
#KBGsyndrome #RareDiseaseDay #RDD2024 #everylinkmatters #KBGfdn

[KBG Foundation @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:
https://t.co/aCGRFq1gWV
See you there!
#KBGFdn #RDD2024 #RareDiseaseDay #KBGsyndrome #everylinkmatters

[KBG Foundation @KBGFdn]

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

[KBG Foundation @KBGFdn]

Take a moment today to say 'thank you' to the Caregivers in your life.
#KBGfamily #KBGsyndrome #everylinkmatters #KBGfdn

[KBG Foundation @KBGFdn]

Abstract submissions for the 3rd KBG Syndrome Scientific Meeting are officially open. Submit your abstract by Feb 15th using the google form: https://t.co/GjsA9WNfOO
To attend, please email Dr. Lyon at [email protected]
#KBGsyndrome #everylinkmatters #KBGresearch

[KBG Foundation @KBGFdn]

If you are an adult or caregiver of an adult with KBG syndrome, this study is aimed at you! Share your voice, or the voice of your loved one by enrolling today!
https://t.co/ib17vuNW7D

#KBGsyndrome #KBGfdn #KBGresearch #everylinkmatters

[KBG Syndrome @KBGSyndrome]

Are you and adult with KBGS or a caregiver of adult with KBGS? This study is aimed at helping us understand your life now with a KBG diagnosis. Click the link to participate.

#KBGsyndrome #everylinkmatter #KBGfdn

[KBG Foundation @KBGFdn]

The University of Bristol in the UK, in collaboration with the KBG Foundation, is conducting a study to further understand KBG syndrome in adults.

To participate, KBG patients aged 16 or above should complete this online survey: https://t.co/1zfo18oU7h

Open until Feb 12, 2024

[KBG Foundation @KBGFdn]

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: https://t.co/lfhhE75T1W
#KBGregistry #KBGsyndrome #everylinkmatters #ANKRD11

[KBG Foundation @KBGFdn]

Thanks Holtrop family for sharing Oliver's story! Personal stories help others feel seen and accepted. Awareness of KBG syndrome means earlier and accurate diagnosis and a treatment! https://t.co/PMTIabSbsd

#KBGsyndrome #KBGfamilies #KBGawareness #everylinkmatters #ANKRD11

[KBG Syndrome @KBGSyndrome]

Congratulations and thank you!

@KBGFdn

[KBG Foundation @KBGFdn]

@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! https://t.co/gXPrDRdAFO

#raredisease #KBGresearch #ANKRD11 #KBGfdn #everylinkmatters

[KBG Syndrome @KBGSyndrome]

The first Patient Registry for #KBGsyndrome is now live!

[KBG Foundation @KBGFdn]

The @KBGfdn has launched the first Natural History Study on KBG syndrome, open to all people with KBG syndrome. Read more about the study and how to participate https://t.co/GG8aMbMGbF

#KBGRegistry #everylinkmatters #KBGfdn #KBGresearch #ChangingLives