Annette Maughan

[Annette Maughan @NettMon]

@EllDee369 @liz_churchill10 The one and only time I got a flu shot I was sicker than I have ever been. 105 fever and couldn’t move for 5 days. Doc told me not to ever get another because the second one could kill me. Lucky I had a Doctor with common sense.

[Annette Maughan @NettMon]

@madbutwright I’m 5’10 and get asked every so often. I gladly help, it’s really no bother at all to be a decent human and help when asked.

[Annette Maughan @NettMon]

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! https://t.co/tciB3ymF9S

[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

[Annette Maughan @NettMon]

@AMVoronova @NatureComms @vizgen_inc @UAlberta_FoMD @KBGFdn @WCHRIUofA Congratulations and thank you!

[Annette Maughan @NettMon]

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!

[Dr. Anastassia Voronova @AMVoronova]

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. https://t.co/cTXI2aEGly 1/9

[Annette Maughan @NettMon]

@AllanBayat @OckeloenC @drkarenlow @Annehugon @ERNIthaca @KBGSyndrome @KBGFdn @everylinkKBG @GholsonLyon Yay! Did I miss a meeting notification?

[Annette Maughan @NettMon]

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

[KBG Foundation @KBGFdn]

#KBGDay2024 shirts are now on sale. Order yours today!

https://t.co/sXim3IIc12

#KBGfdn #KBGawareness #KBGSyndrome #everylinkmatters

[Annette Maughan @NettMon]

@KBGFdn @rockvillesci @daylightnerd @KBGSyndrome @everylinkKBG What a wonderful event! Thrilled to attend!

[Annette Maughan @NettMon]

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.

[KBG Foundation @KBGFdn]

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

[Annette Maughan @NettMon]

I wear purple for Bug and for all my lovely friends who have seen too many, and felt their world shift because of, seizures.

[KBG Foundation @KBGFdn]

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

[Annette Maughan @NettMon]

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

[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

[Annette Maughan @NettMon]

And this year my Mom will join us. :) #KBGsyndrome #KBGfdn #RareDiseaseDay #everylinkmatters

[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

[Annette Maughan @NettMon]

@Srotberg15 Arrogance. When leading a rare NPO it is essential to check your ego at all times. This goes for everyone on the Board, ego has no role in helping others.IMHO.

[Annette Maughan @NettMon]

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

[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]

@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

[Annette Maughan @NettMon]

@AMVoronova @WCHRIUofA @KBGFdn Very exciting news! Congratulations! #TeamKBG!