Hunter Syndrome

Hunter syndrome is a disease caused by a metabolic error in the body.

Treatment and Prevention

Because there is no cure for Hunter syndrome, treatment focuses on managing the signs, symptoms and complications to provide some relief for your child as the disease progresses.

Emerging treatments

Although there is no cure for Hunter or other MPS syndromes, some treatments that are in their early stages had some success slowing the progress of the disease and reduce its severity.

These emerging treatments include:

• The bone marrow transplant. If a match healthy donor blood and its child type of tissue, bone marrow transplantation may be used to treat some symptoms in less severe forms of Hunter syndrome. The bone marrow is taken from the hip donor and transplanted into his son, injecting it into your veins (intravenously). This treatment can help relieve breathing problems, mobility and function of heart, liver and spleen. It can also help prevent your child's mental regression. This treatment will not help with bone or vision problems.

• enzymatic therapy. This treatment uses genetically modified or artificial enzymes, which are injected directly into the bloodstream of your child, to replace missing or defective enzymes your child and relieve the symptoms of the disease. This treatment is still being studied.

• gene therapy. Replacement of chromosome responsible for producing the missing enzyme could theoretically cure Hunter syndrome, but much more research is needed.

Treatments for complications

• Relief for respiratory complications. Removal of tonsils and adenoids can open the child's airway and relieve sleep apnea. But as the disease progresses, the tissues continue to thicken and these problems may return. Respiratory devices that use air pressure to keep the airway open - such as continuous positive airway pressure (CPAP) or bi-level positive airway pressure (BiPAP) devices - can help with upper airway obstruction and sleep apnea. Keep children's airways open can also prevent low blood oxygen levels (hypoxia).

• Addressing cardiac complications. Your child's doctor will want to watch closely for cardiovascular complications such as high blood pressure, heart murmur and leaky heart valves. If your child has severe cardiovascular problems, your doctor may recommend surgery to replace heart valves.

• Treatment for problems of skeletal tissue and connective. Because most children with Hunter syndrome do not heal well and often have complications from surgery, the options are limited to treat complications of connective and skeletal tissue. For example, surgery for stabilization of the spine, using the internal hardware is difficult when the bones are fragile.

Flexibility of the joints of your child can be improved with physical therapy, which helps to address stiffness and maintain function. However, physical therapy can not stop the progressive decline of motion. Your child may eventually need to use a wheelchair because of pain and limited resistance.

Surgery can repair hernias, but because of the weakness of the connective tissue results usually are not ideal. The procedure needs to be repeated many times. One option is to manage your child's hernia with trusses support instead of surgery because of the risks of anesthesia and surgery.

• Managing neurologic complications. Problems associated with accumulation of fluid and tissue surrounding the brain and spinal cord are difficult to treat because of the risks inherent in treatment of body parts. The doctor may recommend surgery to drain excess fluid or tissue to remove built. If your child has seizures, your doctor may prescribe anticonvulsant medications.

• Management of behavioral problems. If the child develops abnormal behavior as a result of Hunter syndrome, providing a safe family environment is one of the most important ways you can manage this challenge. Treatment of behavior problems with drugs had limited success because most drugs have side effects that can make other complications of the disease such as respiratory problems worse.

• Addressing sleep problems. The sleep patterns of a child with Hunter syndrome become more and more disorganized, causing some children to be around-the-clock active. Drugs, including sedative and especially melatonin can improve sleep. Maintain a strict bedtime schedule and make sure your child sleeps in a dark room well can also help. Furthermore, the creation of a safe environment in your child's room - put the mattress on the floor, filling the walls, removing all hard furniture, putting only soft, safe toys in the room - can help you get easier if you know that your child has less chance of injury.