Posted 6/5/2013 4:23 AM (GMT -6)
I would like to introduce you to ALD Life. We are a patient support group and registered charity for patients and families affected by Adrenoleukodystrophy (ALD) – a rare genetic disorder that affects mainly young boys.
We provide emotional and financial support to patients and families, raise awareness of the disorder and fund medical research. You can find more about us here: www.aldlife.org.
Through our many years working with endocrinologists and medical professionals, we have found that there is a lack of awareness of the disorder, as well as its link to Addison’s disease and adrenal failure. ALD is one of the main important causes of adrenal failure in males.
However, ALD is a terminal disorder, leaving young boys to become fully dependent and in a semi-vegetative state within a matter of months. As such, we feel it is imperative to raise awareness of the link between ALD and adrenal failure.
Below is a statement from Dr Colin Steward, Consultant in Haemopoietic Stem Cell Transplantation for Genetic and Metabolic diseases at the Bristol Royal Hospital for Children explaining why it is important to have those with adrenal failure tested for ALD:
“Adrenal failure is a common feature which predates or accompanies two neurological diseases caused by mutation of the ABCD1 gene: Adrenoleukodystrophy (ALD) and Adrenomyeloneuropathy (AMN). The disease is X-linked, meaning that females are carriers (and can be symptomatic in later life) but it is males who develop the major forms of the disease. In some families there will be a history of adrenal failure, nervous system disorders or early death - including sudden unexplained death - in males linked through the female side of the family.
ALD is a potentially devastating disease. It affects approximately 40% of males with ABCD1 mutations and often follows a rapid path of deterioration in childhood or adolescence following onset of the first obvious symptom. Signs of deterioration include hyperactivity, withdrawal, emotional instability, worsening school performance, memory problems, disturbances of gait, speech or coordination, and impaired vision or hearing. AMN has later onset, usually in the 20s to 50s, and is characterised by spinal cord dysfunction which can cause problems with walking, leg stiffness, bladder or erectile dysfunction.
Adrenal problems often predate the onset of neurological disease, meaning that early diagnosis can have important implications. Studies suggest that 50-80% of all boys presenting with adrenal failure will have underlying ABCD1 mutations on testing and 10-35% of adolescent/young adult men (described in detail in this free article: http://www.ncbi.nlm.nih.gov/pubmed/11861237). A minority of patients have isolated adrenal problems and never develop neurological disease.
Early detection of adrenal presentations allows boys to be screened prospectively for brain changes by serial MRI scanning, allowing early intervention with haemopoietic stem cell transplantation or gene therapy. This can arrest disease before significant neurological handicap develops or reduce the eventual severity of problems. In addition cascade testing can be performed in families by biochemical or genetic testing, identifying other affected family members or carriers and opening up avenues such as antenatal diagnostic testing.
The disease is easy to exclude in young males with adrenal failure, involving identification of elevated levels of very long chain fatty acid (VLCFA) level in blood. ALD Life can advise on how to access testing.”
If you have any questions or queries, please do not hesitate to get in touch: firstname.lastname@example.org. We would really appreciate it if you could help us spread the word of the link between ALD and adrenal failure.
Thanks for the support,
ALD Life team