Ep. 58: Raising Awareness of ALD in English & Arabic with Riham

*This month in partnership with ⁠ALD Connect⁠* Our Carrier Connections program features a different X-linked condition each month with the goal to increase awareness of X-linked conditions and how they impact the lives of women and girls. This month, we are featuring adrenoleukodystrophy (ALD). ALD is a X-linked genetic disorder characterized by the deterioration of myelin, a fatty substance that serves to insulate the nerves of the brain and spinal cord. In individuals with ALD, this loss of myelin, also known as demyelination, occurs due to an issue with the gene ABCD1. Under normal conditions, this gene produces a protein essential for breaking down a class of fatty acids known as very long-chain fatty acids, or VLCFAs. When ABCD1 malfunctions, however, VLCFAs build up in the body, creating inflammation that causes myelin to deteriorate. Females with ALD have been known to present symptoms similar to males with AMN, with the exception being that these symptoms tend to manifest later in life. Rarely do females develop the cerebral version of the disease or adrenal insufficiency. The following symptoms have been documented in females with ALD: Bowel and bladder dysfunction Tingling in the hands and feet (peripheral neuropathy) Excessive muscle tone Sexual dysfunction Poor bowel and bladder control Abnormal muscle reflexes Gait disorders Walking and balance issues Today we are chatting with Riham. Riham, a 45-year-old Canadian mother of three wonderful boys—the eldest two are ALD heroes—has transitioned from a career as a civil engineer to a dedicated advocate for rare diseases. She enjoys planting flowers and is passionate about researching rare diseases. As a co-founder of "ALD Hope", Canada's first nonprofit organization for ALD, she assists individuals with rare diagnoses in both English and Arabic. If she spoke more languages, she would undoubtedly offer her support on a global scale. Carrier Connections is sponsored by Kyowa Kirin and Amgen. For more information about our organization, check out ⁠⁠rememberthegirls.org⁠⁠.