CHARGE syndrome is a developmental disorder that affects several areas on the body and in early childhood can be life threatening if not treated with medical care. CHARGE is a abbreviation standing for the features that are common in this disorder; coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities and ear abnormalities. While each individual living with CHARGE syndrome has varying degree of symptoms, we do see that hearing loss is found in almost half of all CHARGERS that is extreme to profound.
CHARGE syndrome is considered a deaf/blind disorder, but what does this mean for everyday life? For Jacob, he has extreme hearing loss and is considered deaf/blind. Jacob is deaf in one ear and has muffled hearing in his other. We are grateful he is able to hear what he can and does not have the need or use of hearing aid or cochlear implants.
Hearing loss in CHARGE syndrome individuals is due to several factors in either the middle ear, cochleas and vestibular mechanisms and/or auditory neural structures. Each of these areas of the ear can cause separate issues which lead to hearing loss but we are not always sure which is the cause. For instance, the middle ear deformity causes the loss of low frequencies making it more difficult to catch all of tone and context in their environment. When there is deformities in the cochleas and/or vestibular area of the ear individuals are seen having trouble with balance and sensory issues. We see sensory behaviors with Jacob. He most times has to hold on to who is with his to gain control in his surroundings and does sensory grounded activities when he is stressed or in a uncomfortable environment! Lastly, auditory neural structures can affect hearing- which means that a part of the ear is dwarfed or missing.
Another ear related issue that many with CHARGE syndrome encounter is that the external ear is often times malformed. Jacob does not have an extreme malformation but you can see this common CHARGE character trait when you look at his ears- his lobe is under developed. However, many CHARGE individuals have extreme malformation which typically does not cause hearing loss, per say, but can make it more difficult to use adaptive equipment.
Hearing loss is a complex issue that has many factors. While we may not know what causes all Jacob’s deafness, we are able to understand what he can hear! Deafness in itself is a challenge. However, due to his limited communication Jacob uses mostly HAPTIC communication, ASL and his environment to communicate.