Learn How to Help Your Child Cope With Cerebral Adrenoleukodystrophy (ALD)

Cerebral adrenoleukodystrophy (ALD) is a genetic disease that happens during childhood. It happens when very long chain fatty acids (VLCFAs) build up in the tissues over time. Normally these VLCFAs are broken down (metabolized) by the body.

ALD can cause damage to nerve cells in the brain and spinal cord. Nerve cells help tell the body how to think and move. They're covered by a thin layer called myelin. When the myelin becomes damaged, the nerves don't work as well. This happens over time and can make symptoms worse.

ALD affects the X chromosome. Boys are affected more severely by the disease. Girls can be carriers. Symptoms can start when children are 4 to 10 years old.

There are many forms of ALD. Each case is different, and each child will have different needs for their condition.

The disease can be severe, and symptoms can get worse quickly. The disease is progressive. This means that symptoms get worse over time.

ALD can affect different parts of your child's body, including their brain, spinal cord, adrenal glands, and testes. Your child may have trouble with hearing, vision, thinking, and muscle control. Over time, they may also have trouble with walking, learning, and activities of daily living. The disease can be deadly if it's not treated.

Different symptoms result from damage to different parts of the body. Symptoms may include:

• Problems with attention, similar to attention deficit hyperactivity disorder (ADHD).
• Emotions or behaviors that happen without your child's control.
• Vision changes and loss. This happens with the way the brain works. There's often no problem with the eyes.
• Changes in your child's ability to understand sounds (auditory processing).
• Trouble understanding speech and language.
• Memory problems.
• Trouble forming thoughts.
• Trouble coordinating movement. Your child may seem clumsy.
• Trouble eating and swallowing (dysphagia).
• Too much muscle tone (hypertonia). This results in limited muscle movement and function.
• Fatigue.
• Problems with the gastrointestinal (GI) tract.
• Vomiting.
• Weakness in the legs.
• Seizures.

Treatment starts with early detection through screening programs.

Your child's treatment depends on their symptoms. Treatment may include:

• A hematopoietic stem cell transplant (HSCT). This can stop symptoms that begin in the brain (neurologic). This may be an option if it's found early.
• Medicines. Some may be used for the rest of your child's life.
• Physical therapy.

Your child will be treated by a diverse care team. This team may include endocrinologists, neurologists, geneticists, psychologists, occupational therapists, speech language pathologists, low-vision specialists, and dietitians.

Here are some tips for helping your child when they have ALD.

• Try to reduce visual and auditory load. This may include reducing physical clutter and background noise.
• Break tasks into smaller steps.
• Use contrasting colors.
• Give your child extra time to figure things out or complete tasks.
• Accept a variety of communication styles. Your child may speak, gesture, point, or write to communicate. Try to use what they give you.
• Help your child with range of motion exercises for each joint.
• Try offering your child smaller meals and snacks throughout the day.
• Get mobility and positioning aids for your child. These may include car seats, joint braces, splints, medical strollers, and wheelchairs.

Different members of your child's care team may be able to offer other tips for your child.