At last year’s Society for the Study of Inborn Errors of Metabolism (SSIEM) conference, we were fortunate enough to speak to Dr Auray-Blais, Director of the Quebec Provincial Mass Urinary Screening Program for hereditary metabolic disorders. Having worked in this field for more than 35 years, Dr Auray-Blais is one of the world’s leading MPS experts – and here she shares her opinions on the different methods of diagnosis and testing.
MPS is short for Mucopolysaccharidoses, a group of seven diseases that includes MPS II, also known as Hunter syndrome. Those with MPS do not have enough, or any, of an enzyme that is needed to break down complex molecules. So, these molecules build-up over time and harm different areas of the body.1
MPS diseases are potentially debilitating so it’s hugely important that they’re detected early. Newborn screening is one of the most effective ways of detecting MPS, as Dr Auray-Blais describes here:
She also has the same stance on pedigree analysis as this can diagnose several members of one family at once. Early diagnosis is key to treating any rare disease so it’s great to know that Dr Auray-Blais is promoting the advantages of newborn screening and pedigree analysis.
Dr Auray-Blais shared her fantastic work on optimising the testing involved in diagnosing MPS. She explained how dried blood spot samples have a role in testing and diagnosis, but urine samples are preferable because they are less invasive.
Dr Auray-Blais’ work also looks to combine several rounds of testing into one so as not to overly stress parents and children by inviting them back again and again for tests. This welcomed consideration is definitely a positive step for the rare disease community.
Dr Auray-Blais feels there’s lots of work to do in raising awareness amongst physicians regarding the tests and treatments available. She suggests country-wide reference networks and educational activities to do this, and we couldn’t agree more.
Everyone living with a rare disease has a story to tell. Whether it affects you directly or you’re a friend, colleague, family member or healthcare professional, we all have our own challenges and ways with dealing with them.