Travel for Stickler Syndrome

Stickler syndrome (hereditary progressive arthro-ophthalmology) refers to a collection of hereditary conditions that affect connective tissue, particularly collagen. This is a sub-type of collagenopathy, types II and XI. The disorder is characterized by serious vision problems, ocular problems, distinct facial abnormalities, joint problems and loss of hearing. Stickler syndrome was studied for the first time in 1966 by Gunnar B. The disorder is normally diagnosed in infancy or during childhood.

There are many healthcare facilities in the United States that offer treatment services for stickler syndrome. However, you will need to travel from your home to these facilities. It should be noted that insurance plans cover treatment expenses but not travel costs. You therefore need to plan for your travel in order to maintain the travel expenses at the minimum.

If you are already set for the healthcare facility that you would like to visit for stickler syndrome treatment, consultation or second opinion, you can go ahead and plan for your travel. You can alternatively check our list of healthcare facilities that provide comprehensive care for stickler syndrome in the country. In case you are not able to meet your own travel expenses, you can consult our directory of charitable bodies that help arrange travel for medical treatments for free.

About Stickler Syndrome

Children suffering from stickler syndrome usually have distinct facial features; prominent eyes, a receding chin and small nose with a scoped out facial outlook. They are also born with a cleft palate (an opening in the mouth roof).

Although there is no cure for the syndrome, treatments can assist in the control of symptoms and prevent other complications. In some instances, surgical operation may be required to correct physical anomalies that come with stickler syndrome.

Symptoms of Stickler Syndrome

The signs and symptoms of this syndrome and the seriousness of the same can vary extensively from one patient to another. These include the following;

  • Eye problems. Apart from suffering from serious nearsightedness, children with this syndrome suffer from glaucoma, cataracts and detachments of the retina.
  • Hearing problems. The loss of hearing is different in magnitude with different patients. However, it largely affects the hearing ability of high frequency sounds.
  • Joint and bone anomalies. Children with stickler syndrome usually have too flexible joints and are prone to developing abnormal spine curvatures like scoliosis. In adolescence, osteoarthritis can develop.

Causes of Stickler Syndrome

The syndrome is brought about by mutations in some genes responsible for the formation of collagen. Collagen is one of the connective tissues’ building blocks. The type of collagen that is commonly affected is the one that is used in the production of vitreous jelly within the eyes and joint cartilage.

The complications associated with stickler syndrome include the following;

  • Breathing or feeding difficulties. This may happen to children born with cleft palate, small lower jaw and tongue that tend to drop back towards the throat.
  • This can happen if detachments in the retina are not promptly corrected.
  • Ear infections. The facial structure anomalies make the children with this syndrome more susceptible to ear infections compared to normal children.
  • The loss of hearing may become worse over time. This makes a small number of patients go completely deaf.
  • Heart problems. Some patients may suffer from heart valve problems.
  • Dental problems. Small jaws reduce the room for complement adult teeth. This may necessitate braces or dental surgical operation in some cases.

Where to Go for Stickler Syndrome Treatment

There are many hospital facilities in the United States where parents with children suffering from stickler syndrome can seek medical treatments. These facilities have the necessary equipments, staff, medications and technology to provide comprehensive care to patients. Among the best of these hospitals include the following;

  • UCSF Benioff Children’s Hospital

UCSF Benioff Children’s hospital has assembled a team of medical experts and support professionals to offer the best treatments for children suffering from stickler syndrome. If you are looking for the best facility that can provide your child with comprehensive care for the syndrome, UCSF Benioff children’s Hospital is the facility to travel to.

Treatment of Stickler Syndrome

To diagnose stickler syndrome, medical history assessment and physical examinations are necessary. Additionally, other tests are required to make an assessment of the seriousness of the condition and help determine the right treatment options. These may include the following;

  • Imaging tests such as X-rays to see abnormalities in the spine and joints
  • Eye examinations. This can detect problems with vitreous, as well as check for glaucoma and cataracts.
  • Hearing tests. This tests the ability to hear different frequencies and volumes of sound.
  • Genetic tests. Can assist diagnosis in some instances. Can also be used in family planning and genetic counseling.

Treatment of this syndrome is aimed at addressing the signs and symptoms. This is because the disease does not have any cure.

Therapies

These therapies are aimed at correcting or addressing the difficulties that the child is experiencing. They include;

  • Hearing aids. These help in addressing the loss of hearing ability.
  • Physical therapy. This is to assist with mobility. Sometimes, braces, arch supports and canes may be required.
  • Special education. Vision or hearing problems may cause difficulties in the learning process in school. Special education is therefore required.
  • Speech therapy. If loss of hearing is interfering with the learning to pronounce some words.

Surgical Operations

In some cases of stickler syndrome, surgery is required to correct the deformities. These operations include the following;

  • Cleft palate repair. This is to cover the hole in the mouth roof.
  • Ear tubes. This is the insertion of plastic tube in the eardrum to reduce severity and frequency of infections in the ear.
  • Jaw surgery. This is to lengthen the lower jaw by inserting a device that will slowly stretch the jawbone as it heals after being broken.
  • This is creates a hole in the throat so as to help the new born to breathe. This is reversed later in life when the airway is no longer blocked as a result of small jaws and displaced tongue.

Home and Lifestyle Remedies

These remedies are aimed at reducing pain and preventing further complications. They include the following;

  • Pain relievers
  • Avoiding contact sports to prevent joint stress and retinal detachments.
  • Seeking educational help. The child teachers in school should be made aware of the child’s special needs due to hearing and sight problems.

Risks Associated with Stickler Syndrome

The only known risk associated with Stickler syndrome is a family history of the disorder. The child born of an affected individual has at least a 50% chance of having the condition too.

Who Can Go for Stickler Syndrome Treatment

Children showing signs and symptoms of stickler syndrome should be treated for the condition even before they leave the hospital after birth. Those parents with the condition should go for genetic counseling before pregnancy and have their child properly examined before and after birth. Individuals with a family history of the disease should also have genetic counseling and have their children properly examined at birth.