Aiden and Aj's story - living with Hunter syndrome

Toni Ann is mum to Aiden and AJ, who both have Hunter syndrome. Here she shares their story, from their early symptoms, such as ear infections and speech delay, to receiving a diagnosis, and describes their family life together. Hunter syndrome or mucopolysaccharidosis II (MPS II) is a rare genetic disease that primarily affects boys, and is passed on via X-linked recessive inheritance.[1] It is a lysosomal storage disease caused by the deficiency or absence of the enzyme iduronate-2-sulfatase (I2S), resulting in the harmful accumulation of glycosaminoglycans (GAGs) in cells, tissues and organs throughout the body.[2] Early symptoms include: recurrent respiratory infections and recurrent otitis media, inguinal and umbilical hernia, and facial features including a prominent forehead, flattened nasal bridge, enlarged tongue and enlarged head.[1,3] Further symptoms that present over time include short stature, claw-like hands, macrocephaly, joint contractures, hepatomegaly, splenomegaly, cardiomyopathy, developmental delay, spinal cord compression, carpal tunnel syndrome and eye problems.[1,2] For more information on Hunter syndrome (MPS II), please visit www.huntersyndrome.info References: 1. Scarpa M et al. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet J Rare Dis 2011; 6: 72. 2. Muenzer J et al. Multidisciplinary Management of Hunter Syndrome. Pediatrics 2009; 124(6): e1228‒e1239. 3. Burton BK and Giugliani R. Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls. Eur J Pediatr 2012; 171: 631–639. The information found on this channel is not exhaustive, and is not intended to diagnose or advise in the treatment of any illness or disease. This information should not be used in place of advice from your general practitioner or other healthcare professional. If in doubt, please contact your doctor for advice. This video is intended for an international audience outside the United States. This video has been initiated and funded by Shire. Shire C-ANPROM/INT//2759 April 2018