2024 Early Hearing Detection & Intervention Conference
March 17-19, 2024 • Denver, CO
3/18/2024 | 10:35 AM - 11:00 AM | Family Perspectives on Navigating a CHARGE Syndrome Diagnosis | Mineral Hall D/E
Family Perspectives on Navigating a CHARGE Syndrome Diagnosis
“Babies with CHARGE syndrome are often born with life-threatening birth defects. They spend many months in the hospital and undergo many surgeries and other treatments. Swallowing and breathing problems make life difficult even when they come home. Most have hearing loss, vision loss, and balance problems that delay their development and communication. Despite these seemingly insurmountable obstacles, children with CHARGE syndrome often far surpass their medical, physical, educational, and social expectations.” (https://www.chargesyndrome.org/about-charge/overview/) This presentation will share three family experiences on how their child was diagnosed with CHARGE syndrome and share the early medical interventions needed before communication choices could be considered. Reflections will help attendees understand family life with a deafblind and medically complex infant and understand the importance of prioritizing the cultivation of parental self-efficacy.
- Attendees will be able to recognize barriers to comprehensive care faced by infants with complex medical needs and available resources to overcome them.
- Attendees will be able to specify resources of the CHARGE Syndrome Foundation that can benefit families in their region.
- Attendees will be able to list benefits of family to family connection.
Presentation:
3478265_16297PenniEchols.pdf
Handouts:
3478265_16297PenniEchols.pdf
3478265_16297PenniEchols_1.pdf
3478265_16297PenniEchols_2.pdf
Transcripts:
3478265_16297PenniEchols.docx
Presenters/Authors
Penni Echols
(Primary Presenter,Co-Presenter), Nevada Hands & Voices, CHARGE Syndrome Foundation, penni.echols@gmail.com;
Penni Echols is the Guide By Your Side Coordinator for Nevada Hands & Voices. She has been employed as an Educational Advocate since 2020 and a Parent Guide since 2021. She passionately believes that every child can communicate when they have the right support and a willing partner. She is a graduate of the Hands & Voices Leadership to Leadership program and volunteers as one of the moderators in the H&V DHH Plus Parent Support Facebook community. In addition, she volunteers as a member of the Board of Directors for the CHARGE Syndrome Foundation and as a Member of the Nevada Department of Education’s Special Education Advisory Committee. Penni and her husband Micah live in Las Vegas, Nevada with their six daughters. Their youngest, Martha was born in 2014 with CHARGE syndrome and is deafblind with additional medical needs.
ASHA DISCLOSURE:
Financial -
No relevant financial relationship exists.
Nonfinancial -
No relevant nonfinancial relationship exists.
AAA DISCLOSURE:
Financial -
Financial relationship with Nevada Hands & Voices.
Nature: Employee.
Nonfinancial -
No relevant nonfinancial relationship exists.
Iris Filkins
(Co-Presenter), CHARGE Syndrome Foundation, Iris.filkins@gmail.com;
Iris Filkins is one of the Colorado state liaisons for the CHARGE Syndrome Foundation. Iris lives in Arvada, Colorado with her husband and two young daughters. Their youngest was born with CHARGE Syndrome in 2021 and is deafblind. Their family is still navigating how to meet her medical and communication needs by learning ASL, taking part in local therapies & events, and advocating for her the best they can.
ASHA DISCLOSURE:
Financial -
No relevant financial relationship exists.
Nonfinancial -
No relevant nonfinancial relationship exists.
AAA DISCLOSURE:
Financial -
No relevant financial relationship exists.
Nonfinancial -
No relevant nonfinancial relationship exists.
Staci Petralba
(Co-Presenter), None, staci.petralba@gmail.com;
Staci Petralba is an audiologist currently working in a physical therapy practice performing vestibular assessment, diagnostic audiometry, and fitting amplification. She obtained her Bachelor of Science degree in communication disorders with a minor in American Sign Language from Central Michigan University in 2011 and her Doctorate of Audiology degree from East Tennessee State University in 2015. Staci and her husband Noah live in Las Vegas, Nevada with their two children, Addison who is 4 and Benjamin who is 2. Benjamin was born with CHARGE syndrome and is deafblind with additional medical needs.
ASHA DISCLOSURE:
Financial -
No relevant financial relationship exists.
Nonfinancial -
No relevant nonfinancial relationship exists.
AAA DISCLOSURE:
Financial -
No relevant financial relationship exists.
Nonfinancial -
No relevant nonfinancial relationship exists.