Hearing loss and rare diseases: What’s the connection?

By | May 21, 2019

Edith Veitch, now 17, was 10 when an audiologist diagnosed her hearing loss and fitted her with aids.

Edith and Margo
Edith and her mother, Margo. Edith has a
rare disease that causes hearing loss
.

Her mother, Margo, a community college instructor in Illinois, is unsure when the hearing loss set in. “We don’t have [hearing loss] in the family so we weren’t looking for it,” she said. In school, because Edith has an intellectual disability, she had been assigned a companion to repeat things to her in class.

Her family then opted for a deaf and hard-of-hearing program—the classes were small and it wasn’t clear how quickly her hearing might deteriorate. Many of her classmates have cochlear implants or rely mainly on ASL. But, Edith’s hands are small and it is difficult for her fingers to form shapes. “When her peers sign to her, she was signing back, but she has become more self-conscious,” Veitch said.  

Eventually her family learned that Edith has Myhre syndrome, a rare disorder of the connective tissue. Fortunately, as with many rare diseases, hearing aids have been an effective treatment. 

“She appreciates being able to hear,” Veitch said of her daughter’s hearing aids.

Many rare diseases can cause hearing loss  

Scientists have identified 7,000 diseases, like Myhre syndrome, that are considered rare. As defined in the U.S by the Orphan Drug Act of 1983, rare diseases each affect fewer than 200,000 people. However, up to 30 million Americans live with a rare disease.

Many, but not all, have been traced at least in part to genes, with signs that appear at birth or early in life.

Read More:  Yoga Asanas for Improved Hearing

At least 400 rare syndromes include hearing loss as a symptom, according to BabyHearing.org

At least 400 rare syndromes include hearing loss as a symptom.

The degree of loss can vary widely from person to person. For some people, hearing aids will be sufficient. For others, cochlear implants and/or learning American Sign Language will be recommended. 

In many cases, a rare disease can cause multiple anatomical and functional changes in the ears. A prime example of this is Turner syndrome

Hearing loss may be apparent at birth or soon after

Because of state programs aided by the federal government, nearly all American babies have a hearing test within the first month of life. About two or three out of every 1,000 newborns in the U.S. have a detectable hearing loss in one or both ears.

More: What parents need to know about newborn hearing screening

The hearing loss may be a sign of a rare disease. Babies with Mondini dysplasia, for example, are born with one and a half coils in the cochlea instead of the standard two, in either one or both ears. Most children with this condition have profound hearing loss. They may need a surgical repair, as well as a cochlear implant, but some can benefit from hearing aids. Babies with KID syndrome, Donnai-Barrow syndrome, and Wildervanck syndrome—among other rare diseases—may have hearing loss.

Sometimes the loss is not present at birth but develops soon after. Babies with the most common and severe form of Krabbe disease develop symptoms in the first six months, which include fevers, muscle weakness and hearing and vision loss.

Read More:  Red mountain weight loss diet plan

Or it develops later

And sometimes, as with Edith, the hearing loss comes much later. People with Alport syndrome, for example, often lose hearing in late childhood or early adolescence and may be treated with hearing aids. Similarly, people with Alström syndrome tend to have progressive hearing loss in both ears that may begin in childhood and be treated with hearing aids.

Other notable rare disorders linked to hearing loss

  • Usher syndrome includes three types of hearing loss, depending on the onset and severity of symptoms. 
  • Auditory neuropathy spectrum disorder can appear at any age. Although it runs in some families, it can occur in people with no family history. In this disorder, signals from the inner ear to the brain are not transmitted properly, which leads to mild to severe hearing loss.
  • Waardenburg syndrome is a group of six genetic conditions that in at least 80 percent of patients involves hearing loss or deafness. People with this syndrome may also have pale blue eyes, different colored eyes, or two colors within one eye; a white forelock (hair just above the forehead); or gray hair early in life.  
  • Vogt-Koyanagi-Harada disease is an autoimmune disease that causes chronic inflammation of melanocytes, specialized cells that give skin, hair, and eyes their color. Because melanin occurs in the inner ear as well, the early symptoms of Vogt-Koyanagi-Haradi disease may include distorted hearing (dysacusis), ringing in the ears (tinnitus), and a spinning sensation (vertigo). Although most people with this illness eventually develop hearing loss, it may be mild enough to manage with hearing aids.
  • In Cogan’s syndrome, similarly, the immune system attacks the tissues of the eyes and inner ears.
Read More:  Can buy weight loss drink

Symptoms can be unpredictable

Symptoms can vary widely in severity among people with the same disorder. And intellectual ability may or may not be affected. For example, children with Carpenter syndrome may be of normal intelligence but it is common for them to have an intellectual disability and sometimes hearing loss.

Such is the case with Myhre syndrome, the condition that Edith has. At least 80 percent of people with it have a hearing impairment, as well as intellectual disability and stiff joints.

Although Edith’s hearing did decline, she does not have a profound loss. She happily wears her hearing aids, even at home. 

She also takes an art class with 32 students, and as her mother noted, “many don’t know she has hearing aids.”

For more information

For more information on rare diseases, see Global Genes, the National Organization for Rare Disorders (NORD), and the Genetic and Rare Disease Information Center (GARD). If you suspect you or a loved one has hearing loss, visiting our large online directory of consumer-reviewed hearing clinics is a good next step. 

Healthy Hearing Content