The COVID 19 Vaccine and Inherited Metabolic Disease Webinar – What You Need to Know

This webinar has been organised by patient organisations working in the field of Inherited Metabolic Diseases (IMD). We have realised from talking to IMD patients and families that there is some confusion about the COVID-19 vaccines.

This webinar will bring together an expert panel to address questions and concerns relating to the vaccines, addressing misconceptions and myths, and providing practical advice and information. If you have questions relating to your specific condition or your clinical care, please contact your metabolic team direct. Your specific patient organisation may also be able to offer support.

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COVID-19 and its impact on inherited metabolic diseases webinar

The following webinar focuses on how those affected by inherited metabolic diseases may be impacted by the recent coronavirus (COVID-19) outbreak.

Many thanks to all speakers for sharing their valuable time and experience to our community today.

The webinar was organised by patient organisations working in the field of Inherited Metabolic Diseases (IMD), and was open to patients and families affected by IMD in a bid to address questions raised by the outbreak of novel coronavirus (COVID-19). We are pleased now to share the recording of the webinar, for those who were unable to attend.

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LSD Collaborative 2018 WORLD poster

On Tuesday 6th February at WORLD the LSD Collaborative will be displaying the poster titled

Collaborative working to advance standards of care and the well being of lysosomal disorder patients and families in the UK

A version of the poster can be viewed below or downloaded here.

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Newborn Screening Expansion in the UK

The number of diseases newborn babies to be tested for to increase from 5 to 9 following pilot, but still low compared to US and European countries

Save Babies UK, the charity that supports families in the UK and Ireland affected by Krabbe Disease, today welcomes the UK National Screening Committee’s decision to expand newborn screening to nine rare genetic disorders from five, but also calls for swift and concerted action to bring the UK closer in line with its international peers.

Newborn screening is a simple blood test, commonly called the heel prick test, where a spot of blood is taken from a baby’s heel within a few days of birth. From this blood sample, a baby can be screened for many diseases. Early diagnosis and immediate treatment can save a baby’s life or prevent a seriously limiting medical condition.

Following a 12 month pilot programme in Yorkshire and other parts of England between July 2012 and July 2013, the UK National Screening Committee has taken the decision to increase the number of diseases currently screened for from five to nine, although the pilot programme screened for an additional 5.

Although Save Babies UK welcomes the progress made by the UK National Screening Committee, it notes that the UK lags far behind other countries across the world. In the USA, there is a legal requirement to screen for a minimum of 30 diseases, with some US States already testing for between 40 and 60 conditions, while New Zealand screens for 28.

Equally, the UK is far behind many European nations; for example, Austria screens for 29 diseases, closely followed by Iceland, Spain, Portugal, the Netherlands and Germany, all of which screen for more than 20.

While not one of the diseases currently screened for, Krabbe Disease – a rare genetic disorder affecting the nervous system – affects approximately 2 to 3 children each year in the UK. Babies born with Krabbe Disease go undiagnosed at birth until they become unwell and generally die before the age of 2. Once a baby has presented symptoms, the child cannot be successfully treated. Early diagnosis therefore is critical.

Several US States screen for Krabbe Disease as part of their newborn screening programme.

Pat Roberts, Executive Director of Save Babies UK, comments: “While we welcome the fact that the National Screening Committee has decided to almost double the number of diseases that newborn babies will be tested for, getting this far has been very slow.

“At this rate, it will be decades before the UK’s newborn screening programme is in line with the US and many European countries, and in that time, too many children and their families will have to cope with life-limiting illnesses that could be treated or cured if diagnosed sooner.”

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