In this section, you’ll find information on some of the key specialists that may play a role in your healthcare team, as well as the supportive therapies that may be available for specific Hunter syndrome symptoms. If you have any questions about treating Hunter syndrome symptoms, please speak to your doctor.
It is important to remember, however, that not all symptoms and complications of Hunter syndrome are able to be addressed with supportive therapies. It may be helpful to talk to your physician, nurse, genetic counselor, or other families living with Hunter syndrome to identify other kinds of strategies that may help improve you or your loved one’s quality of life.
A pediatrician is a type of doctor who has special training in preventing, diagnosing, and treating disease and injuries in children. Pediatricians also help manage other problems that affect children, such as developmental disorders and behavioral, emotional, and social problems.
In cases of Hunter syndrome, the pediatrician will evaluate the overall symptoms and will then be able to refer the patient to specialists with more specialized knowledge on certain types of symptoms.
Pediatricians may also perform physical examinations and evaluate hernias before determining if referral to a specialist is needed. The pediatrician or family practice physician can act as a coordinator of the multidisciplinary team and be the primary point of medical contact for you.
You may find it helpful to keep track of all medical information and appointments in a dedicated medical diary. You may also find it helpful to record symptoms in a symptom diary to be able to better describe the details and frequency of these with your pediatrician during checkups.
Speak to your pediatrician about general symptoms and the specialists that are available to help manage these.
An ENT (ear, nose, and throat) specialist (also called an otolaryngologist) is a doctor who has special training in diagnosing and treating problems relating to the ear, nose, and throat.
Some of the Hunter syndrome symptoms that you might see an ENT specialist for include:
It is common for patients with Hunter syndrome to visit an ENT specialist every 6–12 months for hearing tests, dependent on the progression of symptoms.
The ENT specialist may prescribe antibiotic treatment for recurrent ear infections. Tympanostomy tubes may be inserted in the ear for patients with recurrent ear infections to improve fluid drainage from the ear, speeding recovery from infection. The presence of tubes may aid in both healing of ear infections and improvement of hearing. Hearing aids may also be useful.
Speak to your ENT specialist about symptoms of the ear, nose, and throat, and the available therapies to help manage these symptoms.
A pulmonologist (also called a pulmonary specialist) is a doctor who has special training in diagnosing and treating issues relating to the lungs and respiratory system.
Some of the Hunter syndrome symptoms that you might see a pulmonologist for include:
Patients with Hunter syndrome may visit the pulmonologist yearly for breathing tests. If you or your child develop sleep apnea, a visit to the pulmonologist may be recommended for overnight sleep studies. This usually involves staying overnight at a hospital while the pulmonologist observes you or your child during sleep to identify ways to help.
Breathing problems related to Hunter syndrome may be treated with oxygen therapy, which can be given as needed throughout the night while the person is sleeping. The use of breathing devices, e.g., continuous positive airway pressure (CPAP) or bilevel positive airway pressure (BiPAP), with or without oxygen, in people with sleep apnea can help to improve sleep.
CPAP (“see-pap”) uses a face mask, nasal mask, or an endotracheal tube to assist breathing by pumping air into the airway, keeping the airway open, and increasing lung volume. BiPAP (“bi-pap”) varies the airway pressure to assist breathing and expiration using the same apparatus as CPAP.
Surgery to remove enlarged tonsils and adenoids may ease breathing problems in some patients with Hunter syndrome who have obstructive airway disorders and sleep apnea; however, improvements may only be temporary. Some people may require an endotracheal tube or tracheostomy (each of these are methods of placing a tube directly into the airway to aid breathing) to help alleviate symptoms.
Speak to your pulmonologist about respiratory symptoms and the available therapies to help manage these symptoms.
A cardiologist is a doctor who has special training in diagnosing and treating issues relating to the heart and blood vessels.
Some of the Hunter syndrome symptoms that you might see a cardiologist for include:
Heart problems can sometimes be severe in people with Hunter syndrome; the heart muscles may be weakened, valves and ventricles damaged, and patients may experience arrhythmia (irregular heart rhythms), including tachycardia (a fast heartbeat) and bradycardia (a slow heartbeat). In some cases, these complications can lead to high blood pressure, heart failure, and heart attacks. High blood pressure, if present, may be treated with antihypertensive medications. Damaged heart valves may be surgically replaced.
Speak to your cardiologist about heart-related symptoms and the available therapies to help manage these symptoms.
A gastroenterologist is a doctor who has special training in diagnosing and treating issues relating to the digestive system.
Some of the Hunter syndrome symptoms that you might see a gastroenterologist for include:
Diarrhea and constipation can also be managed with diet or medications.
Speak to your gastroenterologist about gastrointestinal symptoms and the available therapies to help manage these symptoms.
Some of the Hunter syndrome symptoms that you might see a rheumatologist for include:
Patients with Hunter syndrome may visit the rheumatologist on a yearly basis for X-rays and range-of-motion tests.
Speak to your rheumatologist about symptoms of the bones, joints, and muscles, and the available therapies to help manage these symptoms.
A neurologist is a doctor who has special training in diagnosing and treating issues relating to the nervous system.
Some of the symptoms of the severe type of Hunter syndrome that you might see a neurologist for, as well as potential methods of management for such symptoms, include:
Patients with Hunter syndrome may visit the neurologist every 1–3 years for magnetic resonance imaging (MRI) or computed tomography (CT) imaging of the head and MRI of the spine. The neurologist may also evaluate the spine, and perform behavioral and cognitive tests, as well as hand and nerve tests.
Speak to your neurologist about neurological symptoms and the available therapies to help manage these symptoms.
A surgeon is a doctor who removes or repairs a part of the body by operating on the patient, and pediatric surgeons specialize in operating on pediatric patients.
Some of the surgeries that might be performed to alleviate specific symptoms of Hunter syndrome:
Tympanostomy tubes may be inserted in the ear for people with recurrent ear infections to aid healing of ear infections and improve hearing
Surgery to release compression for carpal tunnel syndrome
Speak to your surgeon about any concerns you may have about a surgical procedure.
An anesthesiologist is a doctor who has special training in administering drugs or other agents to prevent or relieve pain during surgery and other procedures.
Where possible, surgical procedures and anesthesia for people with Hunter syndrome should be carried out by surgeons and anesthesiologists experienced in the management of people with MPS. This is because the airway in patients with Hunter syndrome can be compromised by the presence of accumulated GAGs as well as changes to the airway structure that make intubation difficult.
Speak to your anesthesiologist about any concerns you may have about anesthesia prior to a surgical procedure.