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Dublin: 4°C Sunday 28 November 2021

Family marks Rare Disease Day by remembering late daughter Saoirse

The Heffernan family, who set up the Bee for Battens charity, lost Saoirse to Battens disease when she was just five.

Liam Heffernan with his father Tony (right) and mother Mary, and Shay Kinsella from Share a Dream (left)
Liam Heffernan with his father Tony (right) and mother Mary, and Shay Kinsella from Share a Dream (left)
Image: Tony Heffernan

IT IS RARE Disease Day today, an event that aims to raise awareness of the many unusual diseases that can affect people around the world.

One Irish family that knows a lot about this subject is the Heffernans: parents Tony and Mary sadly lost their daughter Saoirse to Battens Disease in 2011 at age five.

Her brother, Liam, now five, was also diagnosed with Battens Disease aged two and has just outlived his sister Saoirse by one week.

Tony and Mary set up the Saoirse Foundation in their daughter’s honour and in the honour of those currently living with genetic and rare diseases in Ireland and beyond.

The charity aims to highlight Battens Disease through the Bee for Battens project, and also supports people living with other rare diseases around Ireland.

Rare diseases

There are over 7000 known rare diseases worldwide, and in Ireland, between 6 -8 per cent of the population will be affected by rare disease.

Up to 70 per cent of those affected are children, 30 per cent of whom will not live past the age of five.

Tony Heffernan described National Rare Disease Day as “so important to keep the public aware of rare diseases affecting people from every parish in Ireland”.

These diseases can sometimes affect only one or two people in Ireland; however they still need attention and funding as much as the more common diseases. We will be marking National Rare Disease Day by spending the day with Liam as a family. This is what is important to us right now and nothing gives me more joy than spending time with Liam and Mary.

The Saoirse Foundation recently launched the BUMBLEance to transport sick children to and from their appointments.

The family also hope to open Liam’s Lodge, a dedicated respite centre, in Co Kerry. They will be lodging formal planning permission with Kerry County Council in March.

Testing children for rare diseases

Today, new genetic tests that will speed up diagnosis of rare diseases in children are being launched by researchers at Crumlin Children’s Hospital and University College Dublin (UCD).

The tests are also to help avoid the need for invasive procedures on children.

According to Dr Sally Ann Lynch, a Consultant Clinical Geneticist at Crumlin Hospital:

‘These new tests will make a genuine difference to the lives of babies and infants affected by a number of rare diseases including infant liver failure, anophthalmia, a condition where children are born with small or absent eyes, and a DNA repair disorder that causes debilitating endocrine and haematological illness.

Previously, infants may have had to undergo many months of complex investigations, but the results of these new blood-based tests will be available within four weeks.

The gene tests, which are available from the Molecular Genetics Laboratory at the National Centre for Medical Genetics in Crumlin, will also avoid the need for invasive procedures, like liver, muscle and skin biopsies.

They will benefit children and families, but will save the health service money as the tests will eliminate the need for surgical investigations, said the researchers.

Read: BUMBLEance: The ambulance specially made for critically-ill kids>
Read: Parents concerned over hours of HSE care for dying son>

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