In September 2016, we had the pleasure of attending the Study of Inborn Errors of Metabolism (SSIEM) conference where we listened to, talked about and shared ideas and knowledge on inherited metabolic disorders.
In the lead up to the event, we were lucky enough to have the opportunity to speak to Gaucher disease expert Professor Ari Zimran, head of the Gaucher Clinic at the Shaare Zedek Medical Centre in Jerusalem. He gave his take on diagnosis and emphasised the urgency of diagnosis.
Gaucher disease is a rare and genetic disorder caused by the absence of an enzyme in the blood.
Professor Ari Zimran talked to us about two methods of diagnosis. Firstly, he covered newborn screening, explaining how it’s vital when treatment is available and when diagnosis can make a difference between a normal life and a disabled life.
“Society should be able to cope with the high cost of newborn screening as it may eventually lead to less expenditure on healthcare and welfare, and ultimately prevent misery, allowing people to fulfil their lifetime dreams.”
However, Professor Zimran highlighted one downfall of newborn screening – it may detect a lot of newborns with Gaucher who won’t actually experience symptoms or need treatment. His answer? Screening should be for mutations only associated with severe symptoms.
Secondly, he discussed pedigree analysis, a method where family members are plotted on a family tree so the probability of inheriting a genetic condition can be calculated. Professor Zimran said this is essential when diagnosing Gaucher. It’s a very valuable technique as it doesn’t require the same level of resources as newborn screening and has higher returns because if one person in the family has the disease, there is a high probability of finding another patient in the same family.
We’d like to thank Professor Ari Zimran for taking the time to talk to us and for sharing his valuable knowledge on both newborn screening and pedigree analysis with the rare disease community.
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.