Just Diagnosed With Adrenoleukodystrophy, Now What?

Just Diagnosed With Adrenoleukodystrophy, Now What?
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A new diagnosis of a rare genetic disorder such as adrenoleukodystrophy (ALD) for your child or yourself can be frightening. Here is some information that may be helpful in understanding ALD and how it could affect your life if you or your child have just been diagnosed with the disease.

What are the different forms of the disease?

There are three main types of ALD: childhood cerebral ALD (CALD), adrenomyeloneuropathy (AMN), and Addison’s disease. They are classified based on the age of onset and the severity of symptoms.

All three types involve mutations in the ABCD1 gene, which resides on the X chromosome. The ABCD1 gene contains instruction for the production of a protein that helps breaks down very-long-chain fatty acids (VLCFAs). Mutations cause this gene to not produce the correct protein and results in the accumulation of VLCFAs in different tissues of the body.

The effect the mutations have on the body varies between the three disease types. It is, therefore, important to learn more about the particular type of disease that affects you or your child.

Our website contains information that may be of help. Also, information from governmental sites such as the National Institutes of Health or patient advocacy group sites such as The ALD Foundation may be helpful.

Where can I get support?

It is important to find support that can help you physically and/or emotionally. Family members can be helpful and so can friends and neighbors.

Finding a support group that can provide you with advice and inspiration also is important, particularly if you or your child have just been diagnosed. Patient organizations such as The Stop ALD Foundation, ALD Connect, and The ALD Foundation may be able to provide information about local or online support groups.

How will symptoms affect my/my child’s daily life?

Symptoms of the disease and the age of onset will vary depending on which type of ALD you or your child is diagnosed as having.

CALD can lead to behavioral and neurological symptoms that can have an effect on children both at home and at school. These symptoms may include an inability to focus during school, seizures, aggressiveness, difficulty coordinating movements, trouble swallowing, and fatigue.

Patients with AMN often develop difficulty walking, muscle spasms, pain, and tingling in the hands and feet, called peripheral neuropathy, as well as possible bowel and genital problems. Some forms of AMN also affect the brain and can lead to behavior changes and trouble with thinking.

Addison’s disease, which comprises around 10% of all ALD cases, primarily affects the adrenal glands. So, patients with this type primarily experience adrenal insufficiency and possibly fatigue, darkening of the skin, and pain.

How will this diagnosis affect my/my child’s mental health?

Being diagnosed with a rare genetic disorder can lead to feelings of anxiety and depression, especially in those with AMN. Since AMN occurs later in life, it can cause patients to mourn for the loss of their previous life after being diagnosed.

If you or your child have feelings of depression or anxiety, it is important to connect as soon as possible with a mental health professional who may be able to help.

Can ALD affect sexual function and reproduction?

There are several ways ALD can affect sexual function and reproduction.

People with ALD often experience delayed puberty and decreased sex hormones. This can be treated with medication if it is causing distress or other problems.

The increased amount of VLCFAs can damage the testes in males and reduce the amount of testosterone and the size of testicles, as well as lead to low sperm counts. The VLCFAs also can cause damage to nerves, which can lead to muscle weakness and erectile dysfunction.

What treatments are available?

Available treatments vary depending on the form of ALD you or your child has and the symptoms you or your child experience.

If you have Addison’s disease, your doctor may prescribe corticosteroid replacement therapy to make up for the decreased hormonal output of your adrenal glands.

Younger patients with ALD may be candidates for stem cell therapy, which involves taking bone marrow or umbilical stem cells from a donor that will become blood cells. The new cells secrete enzymes that can help break down VLCFAs to slow the progression of the disease. Researchers are still investigating stem cell therapy in clinical trials.

Another treatment called Lorenzo’s oil is sometimes used to help prevent the onset of neurological impairments. Lorenzo’s oil is a mixture of oleic acid and erucic acid, which can inhibit the production of VLCFAs. The efficacy of Lorenzo’s oil has not been shown in a randomized controlled trial, however.

There also are a number of experimental treatments under development, including antioxidants, anti-inflammatories, and upregulators of the ABCD2 gene, which has a similar function to the mutated ABCD1 gene. Gene therapy also is being investigated to potentially reprogram a patient’s own cells to correct for the mutations.

How will ALD affect my financial situation?

A chronic, progressive disease such as ALD can lead to an increased financial burden. As the disease progresses, you or your child will have more doctor visits and may require more treatments.

The progressive loss of neuromuscular function also can lead to a lack of independence and to increased disability. This can make it hard to earn money, even as your or your child’s need for caregivers and assistive devices increases.

All of these factors can increase expenses while decreasing income, leading to possible financial burdens. You may want to speak with a financial professional to discuss your options.

 

Last updated: Oct. 21, 2020

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Adrenoleukodystrophy News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

Brian holds a Ph.D. in Biomedical Engineering from Case Western Reserve University and a Bachelors of Science in Biomedical Engineering from Georgia Institute of Technology. He has co-authored numerous scientific articles based on his previous research in the field of brain-computer interfaces and functional electrical stimulation. He is also passionate about making scientific advances easily accessible to the public.
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Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.
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Brian holds a Ph.D. in Biomedical Engineering from Case Western Reserve University and a Bachelors of Science in Biomedical Engineering from Georgia Institute of Technology. He has co-authored numerous scientific articles based on his previous research in the field of brain-computer interfaces and functional electrical stimulation. He is also passionate about making scientific advances easily accessible to the public.
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