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Steven’s story: Living with adrenoleukodystrophy

January 2019

Steven believes that all men with adrenal insufficiency where the cause is unknown (idiopathic Addison’s disease) should also be tested for adrenoleukodystrophy (ALD). Here is his story.

Adrenoleukodystrophy is a rare, genetic condition that causes progressive deterioration in young boys, eradicating their ability to walk, talk and eat unaided. The majority of those with ALD also have Addison’s disease, yet a diagnosis of idiopathic Addison’s disease often does not prompt testing for ALD in adults.

Steven’s story

In his teenage years Steven was often ill, with his symptoms attributed to gastroenteritis. He was finally diagnosed with Addison’s disease in December 2002. It prevents the individual from producing certain hormones in the adrenal glands. Steven must take medication for the rest of his life, increasing the dosage in periods of illness or stress to prevent life-threatening adrenal crises.

Although able to control symptoms of his Addison’s disease, Steven’s friends noticed he had developed a limp. In 2009 Steven went back to his doctor with these issues and with urinary retention, which proved so severe that he was catheterised – an unusual decision for such a young man. Doctors and endocrinologists began to consider the cause, suggesting adrenoleukodystrophy (ALD) as a possibility.

Family history

When the condition was described to him, Steven saw comparisons with the life of his brother, Leigh, who experienced similar symptoms before passing away in 1982, aged just 12. This connection to his family history prompted testing for ALD, including checking levels of Very Long Chain Fatty Acids (VLCFAs). People with ALD are unable to metabolise VLCFAs, so it is often used as an initial diagnostic test for ALD. Steven’s high VLCFA levels and a further genetic test confirmed the diagnosis. He was given devastating news: his doctor said his ALD meant that he had just 5 years to live. He had two young daughters who, according to Steve’s doctor, were likely to lose their father before reaching their teenage years. ALD is inherited through the X chromosome, meaning Steven’s daughters, as all daughters of affected men, are carriers of ALD.

Steven and his family were shocked and devastated. Terrified by the short time he had been given and his worsening symptoms, Steven left his job.

Moving forward

Steven’s and his family found ALD Life, an organisation that put them in touch with others in the same situation. It became apparent that his symptoms were consistent with adrenomyeloneuropathy (AMN), a form of ALD present in adults. AMN has serious effects on the individual’s ability to walk, as well as effects on bowel and bladder movements. The condition is painful, restrictive and without cure, but ultimately does not present such a devastating prognosis as ALD: the news that Steven would live just 5 more years was inaccurate.

Despite being diagnosed with Addison’s disease 8 years earlier, the connection between this and ALD or AMN had not been explored. The majority of ALD and AMN patients have Addison’s disease, and while testing children with Addison’s disease for ALD is common practice, this does not seem to be the case with adult males. In many cases this testing could save lives. Steven is determined that this become standard procedure.

Although Steven now has an accurate diagnosis, with a longer life expectancy than he had feared, he still suffers the painful effects of AMN. Attempts at pain relief have proved largely unsuccessful: today he takes Vitamin D to ease increased pain and muscles spasms of the winter months and Botox injections to the bladder to help him to sleep through the night.

In addition to these concerns, Steven and his family fear worse is to come: 1 in 3 men with AMN go on to develop cerebral ALD. Steven has regular MRI scans to detect signs of this. A few years ago, these scans showed lesions on his brain and he was recommended for more thorough, frequent scans with gadolinium, a dye used to improve the quality of MRI images to detect inflammation. Any inflammation around these lesions would indicate the onset of cerebral ALD.

So far, no changes have been detected, and Steven feels somewhat reassured by the advances in bone marrow transplants to treat adults with ALD.

In the meantime, Steven has become an active member of the ALD Life community, connecting with others to share advice and seek support through an online platform and regularly attending Community Weekend events. It was at an ALD Life Community Weekend that Steven learned of a new clinical trial, for which the pharmaceutical company were looking for participants with AMN.

Steven applied to take part and was accepted on to the trial, hopeful that it will bring some relief to his condition. Hope brought by the trial and knowledge and peer support driven by ALD Life have helped Steven to become more positive about his AMN, his symptoms and his future.