Being told that your child has a potentially life-threatening medical condition that will require life-long monitoring and treatment can be a huge shock. On top of that, the genetic nature of Wilson disease can add a certain amount of parental guilt, even though most parents have no idea that they are each carrying one abnormal copy of the ATP7B gene (one abnormal allele). It’s important to know that Wilson disease responds well to treatment, whether the manifestations are mainly hepatic or neurologic. Good response to treatment is most likely when Wilson disease is diagnosed early and adherence to effective medication is consistent.

All first-degree relatives should be tested. For most families, this means that siblings should be tested right away, since each will have 25% chance of inheriting the same two defective ATB7B alleles from their parents. Diagnosis in the asymptomatic phase permits pre-emptive treatment, which limits organ damage and prevents the development of symptoms.

Learn about copper conscious eating. The common foods with high copper content include shellfish, seeds and nuts, and chocolate. It is often best to adopt copper-conscious eating for the entire family. This may mean eliminating chocolate from the home pantry shelves, at least for 6-12 months after diagnosis. Anyone on a restricted diet, such as vegetarians, should consult with a dietitian for personalized dietary guidance. It is important to maintain a healthy weight. For those in the appropriate age-bracket, alcoholic beverages should be avoided because alcohol can increase hepatic damage caused by retained copper.

MRI scans may be performed to image the brain or the liver. MRI scans can take a long time and require more patient cooperation (staying still) than x-rays or ultrasound. For these reasons, a young child may need sedation or general anesthesia for an MRI scan. A liver biopsy provides a tissue sample for determining the copper content in the liver. Microscopic changes in the liver tissue may point to the diagnosis of Wilson disease or indicate how advanced the liver damage is. Obtaining a liver biopsy may be recommended even when the symptoms are mostly neurologic, or when the diagnosis has been made from blood tests, urinary copper excretion, and genotyping results. In general, liver biopsy is performed with a special needle and very effective local anesthesia, along with some sedation.

Zinc and the oral chelators (D-penicillamine, trientine) all need to be separated from food intake by approximately 2 hours. This is probably the hardest part for children and youth living with Wilson disease: timing their food intake around the medications they need to take every day and bringing their medication with them for the day. Parental or cellphone reminders and liaison communication with the school nurse will be key for success. Zinc typically needs to be taken three times per day, but the oral chelators can be taken twice daily, an easier regimen which tends to enhance adherence.

Neurologic abnormalities involving speech, handwriting and motor skills will impact school performance. Accommodations should be sought through the school guidance counselor to allow more time for tests and the use of a keyboard or computer as necessary for tests or note-taking. In some cases, finding a scribe may be advantageous. Speech therapy at school is essential if the child or youth has dysarthria or similar difficulty speaking. Occupational and physical therapy assessments may be needed as well.

As young adults move away from home, the key considerations involve independent self-care of Wilson disease and minimizing additional liver injury, such as that from fatty liver. Specific pointers include:

• maintaining a healthy weight by avoiding “junk food” and getting enough exercise
• avoiding vitamins and food supplements which contain copper
• limiting copper-rich foods
• avoiding alcohol
• taking medication consistently
• navigating new health insurance in countries without universal health insurance
• arranging medical follow-up and monitoring, which may involve navigating transition from pediatric to adult providers or to providers in a new geographic locale