This website is intended for audiences outside the United States.

HUNTER SYNDROME

Dr Auray-Blais on MPS and the Future of Rare Metabolic Disease Therapy

We get the latest thinking from the renowned Dr Auray-Blais on the different methods of testing and diagnosing Mucopolysaccharidoses (MPS).

Get news, stories and updates straight to your inbox

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.

SSIEM Building

What is MPS?

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

Learn more about Hunter syndrome

How important is early diagnosis?

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:

“If we have the means to detect a disease early and the means to treat the disease, then we have no reason not to aim to detect patients as early as possible with newborn screening.”

Dr Auray-Blais

HUNTER

Dr Auray-Blais

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.

How do we optimise the testing of MPS?

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.

And looking ahead?

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.

Related articles

quote_grey

My aim was to connect affected families, so that we could all support and help each other.

Desislava's Quote

Hunter

Desislava

Have you got a story?

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.

Tell us your story

Rare Diseases Newsletter

Get news, stories and updates straight to your inbox