When we think about hearing loss, usually we think of loud and damaging noises, old age, or other causes for the condition, but there are actually many rare and unusual ways some of us lose our hearing. Though scientists have discovered over 7,000 diseases that they consider as rare, the National Center for Advancing Translational Sciences (NCATS) has found that up to 30 million Americans suffer from a rare disease, many of which have been traced in part to genetics, with signs appearing at birth or early in life. This is an alarming statistic, as around 400 of these rare diseases have hearing loss as a symptom, affecting the quality of life of millions of patients across the country. While many lose their hearing due to noise exposure, some in the deaf and hard of hearing community have had rare and unusual journies.
Myhre Syndrome is an incredibly rare connective tissue disorder caused by a mutation in the SMAD4 gene, a protein involved in transmitting chemical signals from a cell’s surface to its nucleus. Due to its difficulty to diagnose, Myhre Syndrome’s true prevalence is unknown, though around 60 cases have been documented in medical literature. Hearing loss at a young age is a common symptom that occurs in most cases of Myhre Syndrome, with most patients being fitted with hearing aids to give them the assistance they need and reduce the rate of deterioration as the disorder progresses.
Autoimmune Inner Ear Disease is a rare condition in which bilateral sensorineural hearing loss (SNHL) is caused by an uncontrolled immune system response attacking the inner ear. This is caused by damage from antibodies or immune cells mistakenly targeting inner ear antigens. Less than 1% of those with hearing loss suffer from AIED, making it an extremely rare and unusual way for patients to lose their hearing. To treat AIED, a short regimen of high dose steroids have been shown to make a noticeable difference, partnered with medication that can reduce the reactions of your immune system.
Though most people with Waardenburg Syndrome have healthy hearing, profound and severe hearing loss can occur in one or both ears due to this group of genetic conditions. Common signs of Waardenburg Syndrome include changes in pigmentation, causing extremely pale eyes or different colored eyes, and distinctly colored hair, such as patches of white hair. There are 4 different types of Waardenburg Syndrome and the condition affects an estimated 1 in 40,000 people. This accounts for 2 to 5% of all cases of congenital hearing loss.
Though these are rare and unusual conditions that cause hearing loss, there are still treatment options to increase your quality of life. If you are facing symptoms of hearing loss or one of these conditions, don’t struggle through them alone. Speak to a hearing health professional to assess your specific needs and protect your hearing for the future.