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During each office visit, our physicians assess lung function as part of monitoring and ongoing treatment. Our doctors ask a number of detailed questions to determine whether an adult or child with familial dysautonomia has any symptoms of a lung infection or related problems, such as aspirating food into the windpipe or lungs.

The most commonly used test to assess lung function is spirometry, which measures how much air a person can move in and out of the lungs. In this test, you or your child inhales deeply and then exhales into a plastic tube, allowing the spirometer to measure the volume and flow of breath. Doctors at �ٺ���Ƶ are experienced in working with people to help them relax and encouraging them to inhale and exhale forcefully during the test.

Doctors also measure arterial blood gas to check the amount of oxygen and carbon dioxide in the blood. If oxygen levels are low and carbon dioxide levels are high, the doctor may refer you to a pulmonologist or sleep specialist for additional evaluation and treatment.

People who have familial dysautonomia have frequent and severe respiratory infections. These infections can occur after aspirating food and fluid into the lungs or due to difficulty coughing up mucus and saliva.

To prevent these problems, our doctors provide lifelong monitoring and treatment. Our dysautonomia experts work closely with our pulmonologists who specialize in preventing and treating respiratory infections in people with this condition.

Pulmonologists use a technique called chest therapy to reduce the risk of respiratory infections. This therapy, which can either be performed by rhythmically tapping the chest or using different positions to improve drainage, can help to clear mucus from the lungs.

Doctors may recommend wearing a special vest that oscillates, or vibrates, to help loosen mucus in the chest. They may also prescribe a cough assist device you can use at home to make a cough more productive and help clear mucus from the lungs. This machine increases air pressure in the lungs when you breathe in. It pulls air out of the lungs when you exhale. This change in air pressure in the lungs makes it easier to cough.

Our specialists in critical care medicine are experts in managing severe respiratory problems that can develop suddenly in people who have familial dysautonomia. Our doctors commonly prescribe antibiotics to treat serious respiratory infections.

Nearly all people with familial dysautonomia have difficulty regulating their breathing at night and have frequent interruptions in breathing called sleep apnea. One type of sleep apnea, called central apnea, causes shallow or infrequent breathing during sleep. Another type, called obstructive sleep apnea, also occurs in people who have familial dysautonomia. Low muscle tone in people with this condition allows tissue in the back of the throat to block the airways during sleep.

Our doctors recommend that all babies with familial dysautonomia have a sleep study to detect breathing problems. Children and adults with the condition may have a yearly sleep study to monitor for sleep apnea.

Some pediatricians may treat children who have familial dysautonomia with growth hormone therapy to improve growth rate. For these children, specialists at Hassenfeld Children’s Hospital recommend a sleep study six weeks after beginning treatment. That’s because growth hormone can increase the size of the adenoid tissue and obstruct airflow in the back of the throat when muscles relax during sleep.

Experienced specialists at �ٺ���Ƶ’s Pediatric Sleep Disorders Program interpret results of the sleep study. Doctors determine the severity of your child’s sleep apnea based on the average number of breathing disturbances per hour of sleep. They also measure carbon dioxide levels, which can build up in the blood when breathing is too slow or too shallow.

Adults with familial dysautonomia and sleep apnea can receive specialized care through �ٺ���Ƶ’s Sleep Disorders Center.

To combat sleep apnea, our doctors often recommend using noninvasive ventilation devices, such as a continuous positive airway pressure, or CPAP, machine. These devices help keep the airways open, maintain oxygen levels, and flush out carbon dioxide during sleep. They deliver pressurized air through a mask or nosepiece.

Using these devices can help prevent sudden death from nighttime respiratory problems and may improve breathing during the day. However, airflow from these devices can increase the risk of corneal injury in people with familial dysautonomia who have little moisture in their eyes.