Visit Our Blog
  • About FDNA
  • Products
    • Face2Gene Clinic
    • Face2Gene Labs
  • Contact
  • Blog
  • News & Publications
  • Blog

Categories
  • All
  • ACMG
  • Case Study
  • Diagnostic odyssey
  • Events/Conferences
  • Face2Gene
  • Geneticist profile
  • Genomics
  • Phenotyping
  • Rare Diseases
  • Scientific Abstracts
  • Talks
  • Technology
  • Uncategorized
  • Videos

A Diagnostic Odyssey: It took almost 10 years for Glenn “Bug” Maughan’s family to find out he had KBG Syndrome

June 30, 2022

By FDNA Team

Diagnostic odyssey

“When you know, when it has a name, even if it doesn’t have a cure, you can find a new family”

Now a young adult, it took 10 years for Bug to be diagnosed, when a simple photo in Face2Gene could have pointed  his doctor  to the right diagnosis

 

When Glenn “Bug” Maughan was diagnosed with KBG Syndrome in 2015 at the age of 12, that diagnosis was one answer to so many questions his parents, Annette and Glenn, had been asking for years: Why is he having so many seizures? Why is his gait so unusual? Can he hear us? Why did he start to lose some of the early skills he had gained already?

“Early diagnosis would have helped us so much,” Bug’s mother, Annette Maughan, says.

Bug, now a loving young man with three younger siblings who continues to make progress, had his first seizure at age 3, followed by another one four months later. It was the beginning of countless seizures that would occur in the years to come.

“When he was younger, we were so focused on epilepsy,” Annette says. Another doctor added autism to Bug’s diagnoses when he was about 5. Yet, Bug’s parents knew there was something else to uncover.

“In fact, when we saw a geneticist, he said Bug had physical markers of having a genetic anomaly, but he didn’t look like it since he looked like his dad,” she recalls, mostly because both of them had golden-red hair. It would be several more years before they could convince a doctor to order a whole exome sequence (WES).

Bug’s portrait when he was 3 years old on the Face2Gene app indicates high mark for KBG Syndrome

 

Through the WES, they finally got their answer: KBG Syndrome, one so rare, there were only about 60 known cases at the time. The syndrome is caused by a mutation of the ANKRD11 gene and is associated with a spectrum of challenges, including developmental delays, cognitive disabilities, behavioural disorders, autism, seizures, hearing loss, skeletal anomalies, heart complications and gastrointestinal problems.

“If doctors had a non-evasive tool to help them look earlier, so much would have been different”, Annette says. If a doctor back then could have simply uploaded a photo of young Bug and matched his facial features against phenotypic data for rare diseases, the Maughans would likely have known much sooner what kinds of challenges he would potentially face in the future.

“We would have kept an eye on his ears. He had so many ear infections, but we didn’t know it because of his high pain threshold,” Annette says. “ We would have watched for tethered cord. After he had surgery to release his tethered cord, it changed his life completely.”

“Early diagnosis can change lives,” Annette says, “not just the outcomes for the patient, but the outlook of the patient’s loved ones.”

“When we didn’t have a diagnosis, we felt so isolated,” Annette says. “When you have a child that is different and you don’t have answers to give, and people look at you to ask more questions, all you can say is ‘We don’t know.’ And then they leave.”

When people know what they’re dealing with, they can find others in similar situations. If there’s a syndrome, there’s probably a patient support group or organization. For Annette and Glenn, there was no KBG Syndrome organization when Bug was diagnosed, so they were the ones to start the KBG Foundation, a 501(c)(3) organization devoted to driving awareness and research, as well as providing education and support for families. The Foundation has a closed Facebook group for patients and their families to share their experiences and support one another. Within two weeks of starting the group, Annette received her first message from another parent. Within a year, she says, the group was able to confirm at least 70 more families with a member with a KBG diagnosis. Today, that Facebook group of patients and family members is more than 1,700 people strong.

“When you know, when it has a name, even if it doesn’t have a cure, you can find a new family,” Annette says. “And that helps you find a home.”

About the KBG Foundation
The KBG Foundation is a 501(c)(3) nonprofit organization, dedicated to providing support, assisting in research programs and advocating to raise awareness about KBG Syndrome.


About KBG Syndrome
KBG Syndrome is a rare genetic disorder caused by a mutation on the ANKRD11 gene, associated with a spectrum of challenges, including developmental delays, cognitive disabilities, behavioral disorders, autism, seizures, hearing loss, skeletal anomalies, heart complications and gastrointestinal problems. Most people with KBG share at least some physical traits, including a triangular face, heavy eyebrows, curved fingers and spine, and short stature

More entries about Diagnostic odyssey

Diagnostic odyssey
 

Diagnostic Odyssey: Brother and sister journey to find a diagnosis for Bardet Biedl Syndrome

Lauren’s birth was déjà vu for her parents. She had extra fingers, the same as her 7-year older brother Tyler Read more

Diagnostic odyssey
 

Face2Gene helps to reduce time to diagnosis of rare genetic syndromes around the world

Two mothers from two different countries share a similar story: a 10 year long journey to  find a diagnosis for Read more

Diagnostic odyssey
 

A mother’s heart knows: Nicolas’ ten-year journey to a diagnosis

For ten years Maria Rayane knew something was not right with her son Nicolas. She was told by different specialists Read more

Diagnostic odyssey
 

First Patient Diagnosed with Ultra-Rare Genetic Syndrome with the help of FDNA’s new AI Algorithm

Dr. Himanshu Goel utilized FDNA’s Artificial intelligence that instantaneously matches rare disease patients’ photos with other patients’ photos around the Read more

Diagnostic odyssey
 

A Diagnostic Odyssey: It took almost 10 years for Glenn “Bug” Maughan’s family to find out he had KBG Syndrome

“When you know, when it has a name, even if it doesn’t have a cure, you can find a new Read more

  • Contact Us
  • Privacy Policy
  • Terms of Use
  • Careers at FDNA

Signup for News


* These fields are required.

© 2011-2023 FDNA INC. www.FDNA.com. All rights reserved.

Face2Gene is a search and reference tool provided for informational purposes and not intended to replace the clinician’s judgment or experience, nor should it be used to diagnose or treat medical conditions.

We use cookies on our website to give you the most relevant experience by remembering your preferences and repeat visits. By clicking “Accept All”, you consent to the use of ALL the cookies. Check our Cookie Policy.
Cookie SettingsAccept All
Manage consent

Privacy Overview

This website uses cookies to improve your experience while you navigate through the website. Out of these, the cookies that are categorized as necessary are stored on your browser as they are essential for the working of basic functionalities of the website. We also use third-party cookies that help us analyze and understand how you use this website. These cookies will be stored in your browser only with your consent. You also have the option to opt-out of these cookies. But opting out of some of these cookies may affect your browsing experience.
Necessary
Always Enabled
Necessary cookies are absolutely essential for the website to function properly. These cookies ensure basic functionalities and security features of the website, anonymously.
CookieDurationDescription
cookielawinfo-checkbox-analytics11 monthsThis cookie is set by GDPR Cookie Consent plugin. The cookie is used to store the user consent for the cookies in the category "Analytics".
cookielawinfo-checkbox-functional11 monthsThe cookie is set by GDPR cookie consent to record the user consent for the cookies in the category "Functional".
cookielawinfo-checkbox-necessary11 monthsThis cookie is set by GDPR Cookie Consent plugin. The cookies is used to store the user consent for the cookies in the category "Necessary".
cookielawinfo-checkbox-others11 monthsThis cookie is set by GDPR Cookie Consent plugin. The cookie is used to store the user consent for the cookies in the category "Other.
cookielawinfo-checkbox-performance11 monthsThis cookie is set by GDPR Cookie Consent plugin. The cookie is used to store the user consent for the cookies in the category "Performance".
viewed_cookie_policy11 monthsThe cookie is set by the GDPR Cookie Consent plugin and is used to store whether or not user has consented to the use of cookies. It does not store any personal data.
Functional
Functional cookies help to perform certain functionalities like sharing the content of the website on social media platforms, collect feedbacks, and other third-party features.
Performance
Performance cookies are used to understand and analyze the key performance indexes of the website which helps in delivering a better user experience for the visitors.
Analytics
Analytical cookies are used to understand how visitors interact with the website. These cookies help provide information on metrics the number of visitors, bounce rate, traffic source, etc.
Advertisement
Advertisement cookies are used to provide visitors with relevant ads and marketing campaigns. These cookies track visitors across websites and collect information to provide customized ads.
Others
Other uncategorized cookies are those that are being analyzed and have not been classified into a category as yet.
SAVE & ACCEPT