On June 10, 2022, Patient Worthy partner GACI Global hosted an hour long webinar on the subject of hearing loss, featuring Dr. Karen Wilber.
GACI Global is a nonprofit organization committed to providing support to people impacted by generalized arterial calcification of infancy (GACI), an incredibly rare disorder. This organization is dedicated to helping build a community around this extremely rare condition, which only has around 200 confirmed cases in history. GACI Global serves as a critical resource of support and information for people impacted by this disease.
About Generalized Arterial Calcification of Infancy
Generalized arterial calcification of infancy (GACI) is a rare genetic disorder that is characterized by arterial rigidity that often triggers heart failure or heart disease. It is linked to mutations of the ENPP1 gene (type 1) in around 75 percent of cases. In around 10 percent of cases, it is attributed to mutations of the ABCC6 genes (type 2); however, there is a small percentage with no identifiable mutation. Infants are typically impacted in the first six months of life. Symptoms are varied and can include cyanosis, low fetal activity, swelling, high blood pressure, vomiting, abdominal distension, arterial stiffness, heart failure, faint or absent pulse, refusal to eat, narrowed blood vessels, breathing problems, enlarged heart, kidney failure, hearing loss, and more. Many infants die of heart disease. While there is no cure for GACI, certain treatments can improve survival, such as bisphosphonates, PGE1 infusion, sodium thiosulfate, and heart transplant. To learn more about GACI, click here.
GACI and Hearing Loss
Christine O’Brien, one of the co-presidents and founders of the group, introduced the webinar. Two of her children have GACI, and this webinar was inspired by some of the complications that her children have faced. Her son Callum, for example, has struggled with hearing loss. He was born prematurely, and his first few months of life were very difficult; he was fortunate to survive.
At 15 months he needed ear tubes because of frequent ear infections. The family first learned about GACI when he was two and half years old. His younger sister had been diagnosed with the disorder before birth, and a diagnosis was confirmed for Callum as well after testing. In the coming years, Callum’s hearing would begin to decline and he required hearing aids at around age four. Today he is eleven years old, and his hearing loss has stabilized.
The family has had to adapt in order to communicate with Callum and make sure that he is hearing things correctly.
Dr. Wilber notes that up to seven percent of babies that require time in the neonatal intensive care unit (NICU) may experience hearing issues. Around 50 percent of cases are the result of congenital disorders. Up to 20 percent of cases are the result of congenital cytomegalovirus (CMV) infections, and another 30-40 percent are linked to inner ear structure abnormalities.
In type 1 GACI, rates of hearing loss reach about 50 percent by age four, and 75 percent of patients will experience hearing loss at some point during their lives. Routine evaluation of hearing is recommended for people diagnosed with GACI and can be conducted at any age or developmental level. Early signs of hearing loss include frequent mishearing, delayed speech development, turning the head to favor one ear, and social withdrawal.
Early detection of hearing loss is important for patient quality of life and so treatment can begin as soon as possible. This can also be important for normal language skills development. Tips for communicating with someone that has hearing loss include:
- Noise. Try to communicate outside of settings with a lot of ambient noise whenever possible.
- Distance. Get as close to the other person as you are comfortable with to improve the chance that you will be heard.
- Light. Being able to see one another’s faces for visual cues can increase the chance of successful communication.
- Rephrase. If you need to repeat yourself when speaking, say what you need to say in a different way.
Children with hearing loss may benefit from assistive technologies, education support, and speech/language therapy.
To access the full webinar, click here.