Wilson’s Disease

January 24, 2022
Janelle Thomas MSN, RN
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Wilson’s Disease is an extremely rare condition that affects how the body gets rid of copper in vital organs. In fact, Wilson’s Disease has only been diagnosed in 2,000 to 3,000 cases in the United States. The disorder is usually identified in older children and adults under 35, but it can be found in younger and older people as well.

In the most serious cases of this condition, copper can accumulate to a severe and possibly life-threatening level. The good news is that Wilson’s Disease is often treatable and people generally are able to lead a normal life after receiving a diagnosis.

If you are the parent or other caretaker of a child with Wilson’s Disease, learning more about this condition can help you reach your care goals. Take some time to read this brief and easy-to-understand guide for a better understanding of risk factors, causes, and treatment options.

What causes Wilson’s Disease?

Wilson’s Disease is so rare because it is an inherited condition, and people must inherit the defective gene from both parents. This is known as an autosomal recessive trait, and if you receive it from only one parent, you will become a carrier but not develop symptoms.

Wilson’s Disease Risk Factors

As a genetic condition, children whose parents, siblings, or other close family members have the condition are at the highest risk. The condition is often discovered due to genetic testing.

Copper is an essential mineral to our health, helping to regulate skin, nerve, and bone health. In normal cases, we absorb copper through our food and secrete excess amounts through bile produced in the liver. With Wilson’s Disease, the genetic defect disrupts this process and causes copper to build up in our body.

Because copper is a trace mineral, it can take years to build up to dangerous levels. This is why it can sometimes not be diagnosed well into adulthood.

Wilson’s Disease Symptoms

Symptoms of dangerous copper buildup in the body include:

  • Chronic fatigue
  • Loss of appetite
  • Abdominal pain
  • Buildup of fluid, often in the legs and abdomen
  • Eye discoloration
  • Muscle stiffness and spasms
  • Difficulty swallowing
  • Speech and physical coordination problems

Diagnosing Wilson’s Disease

The earlier Wilson’s Disease is diagnosed, the easier it can be to treat. If left untreated, the continuing buildup of copper can lead to liver scarring, neurological problems, and potentially fatal organ failure.

To confirm a diagnosis of Wilson’s Disease, Doctors will usually take the following steps:

  • Review of patient and family medical history
  • Genetic testing
  • Liver biopsy
  • Lab tests, including blood and urine analysis
  • Eye examination

Wilson’s Disease Treatment

The first goal of treatment is to encourage the body to release the excess copper into the bloodstream so it can be filtered through the kidneys and flushed out in the urine. Medications known as chelating agents accomplish this by binding with copper in the body.

Next, patients will begin taking medications that will help prevent the buildup of copper, such as zinc acetate. Many patients suffer from the side effects of chelating agents, and managing these side effects can become a part of the treatment process. Patients are also encouraged to avoid foods that are high in copper, including:

  • Liver
  • Chocolate
  • Mushrooms
  • Nuts
  • Shellfish

In the most serious cases, surgery, including liver transplant, may be needed.

Caring for a Child with Wilson’s Disease

For children diagnosed with this condition, there can be considerable specialized care needs. From managing medication and side effects to helping with recovery from surgery and transplant, it is important to ensure your child has the help and positive environment they need. In many cases, pediatric home care can be a highly beneficial part of the treatment picture.

Contact Care Options for Kids for Home Health Care in Florida

It can be hard to balance your time between work, home, and caring for a child. That’s why our team of professionals at Care Options for Kids is here to help. We have been enforcing precautionary measures and following the Centers For Disease Control (CDC) guidelines for COVID-19 to ensure the safety and health of our clients and employees.

Our home health care services offer support in the comfort of your home. We refer loving and competent nurses to provide customized care for families — from a few hours a day to around-the-clock supervision. Contact us directly to speak with a home health care professional or request a free in-home assessment. Together we can determine the best plan of action to keep your loved ones happy and healthy.

If you or a loved one are considering Pediatric Home Health Care Services in Florida, contact the caring staff at Care Options for Kids. Call today at (888) 592-5855.