How To Treat Hunter Syndrome

Hunter syndrome is an exceedingly rare genetic disorder caused by a malfunctioning or missing enzyme. Patients with Hunter syndrome don't have enough iduronate 2-sulfatase. Without an adequate amount of this enzyme, certain complex molecules build up in the body because they can't be broken down. As the substances build up, patients experience progressive, permanent damage that affects their physical abilities, organ function, mental development, and appearance. Hunter syndrome doesn't have a known cure, so treatments focus on the management of complications and symptoms. Different patients will experience different symptoms in a range of severity. Rather than being present at birth, the symptoms generally begin around the time patients are two to four years old and range in severity.

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Use Of CPAP Or BiPAP Devices

It's common for children with Hunter syndrome to experience a number of respiratory complications. The tongue becomes enlarged, the gums thicken, and the windpipe and nasal passages thicken. This can constrict the airway and make it difficult for children to breathe. It's common for children to have chronic respiratory infections, pneumonia, sinus infections, and ear infections. Because the airway is constricted, children may experience the interruption of their breathing during sleep, a condition called sleep apnea. The use of CPAP or BiPAP devices can help relieve sleep apnea and keep the airway open. CPAP and BiPAP machines use air pressure to open a child's airway, which helps avoid lowering the levels of oxygen in the blood.

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Heart Valve Replacement

Children with Hunter syndrome may experience certain cardiac complications. When the heart tissue thickens, heart valves may close improperly. This keeps the heart from receiving or delivering blood efficiently to the rest of the body. The progression of the disease makes these conditions worse, typically leading to heart failure. Thickening tissue might also cause the aorta to narrow, leading to high blood pressure and narrow arteries throughout the lungs. It's important for doctors to monitor patients for cardiovascular complications. When children have severe cardiovascular issues, doctors might recommend a heart valve replacement surgery.

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Spinal Stabilization Surgery

Instead of being digested, complex sugar molecules are stored in connective tissues throughout the body, causing abnormalities in the ligaments, joints, and bones. A child's growth will be stunted, and they will also experience physical malformations and pain, which make movement difficult. Children may have an irregularly shaped spine or irregular vertebrae. Other abnormalities might occur in the pelvises, legs, fingers, arms, and ribs. Some doctors recommend spinal stabilization surgery, which uses internal hardware to correct some of the deformations and help the spine function properly. However, this procedure won't work for everyone. Surgical solutions aren't always the best because children with Hunter syndrome tend to experience complications following surgery. It's difficult for a child with Hunter syndrome to heal well.

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Drain Fluid Around The Brain

It's common for children with Hunter syndrome to experience neurological complications, but the exact neurological issues vary widely. Neurological problems might worsen as the disease progresses, and children may develop multiple neurological issues over time. A lot of neurological issues occur because excess fluids build up in the child's brain. The pressure might lead to serious headaches, changes in a child's mental state, and problems with vision. Some children may also experience seizures. In more severe cases of the syndrome, abnormal behavior tends to develop in children from two to six years old. Common behaviors include aggression, hyperactivity, and an inability to sense danger. It's difficult for doctors to address issues with fluid around the spinal cord and brain because treating the nervous system is risky. However, some doctors might recommend surgery to drain fluid around the brain. Children with seizures might benefit from anticonvulsant medications as well.

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Physical Therapy

Children with Hunter syndrome experience complications that hinder physical movement. They may have joint stiffness because the connective tissues in the joints are swollen. Also contributing to joint stiffness are abnormalities in the bones and cartilage. When children experience pain, they tend to move less, which causes further stiffness. Physical therapy can help improve the joint flexibility of a child. This helps maintain the function for longer and keeps joint stiffness from being unbearable. However, physical therapy won't be enough to stop a child's joint motion from declining as the disease progresses. Some children may need wheelchairs because their stamina is limited, and they experience pain when walking.