Beckwith-Wiedeman Syndrome. Heartfelt appeal for help

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AN IRISH family has issued a heartfelt appeal for help in getting their eight-month-old son to the US so his rare genetic condition can be treated.

Noah Drake-Brennan was born with Beckwith-Wiedeman Syndrome (BWS) and his parents, Emma and Philip, hope a €30,000 surgery in a specialist Missouri hospital will help transform his life.

BWS was originally known as EMG-Gigantism given that those born with the syndrome suffered from over-sized physical features. These can range from over-sized organs to limbs.

Genetic

The syndrome is a genetic disorder and Noah was born with an over-sized tongue.

The danger for the little Carrigaline, Co Cork boy is that his tongue poses the risk of blocking his airways. Noah was born 10 weeks premature and had to be placed on a respirator for his first three months.

“Surgery will eliminate this [breathing] risk and allow us all to sleep peacefully for the first time since he was born,” Emma explained.

“As a baby he would regularly stop breathing in his sleep which is a terrifying situation for any parent.”

The Missouri surgery will see Noah’s tongue reduced in size.

The surgery has to be carried out while Noah is young to prevent any possibility of facial or jaw distortion. Children who do not have the surgery completed in their first 18 months have problems with jaw distortion and can even have their teeth gradually pushed out of place.

In some extreme cases, the children’s speech is even affected by the size of their tongue.

Once Noah has recovered from the procedure he should be able to feed himself. Emma and Philip and their friends have already raised €15,000 towards the cost of the surgery but need another €15,000.

The couple are now in a race against time because the surgeon who specialises in the procedure is due to retire and Noah’s case is one of the last he is scheduled to handle.

The little Cork boy’s surgery is provisionally scheduled for October 25.

“Noah is such a happy and easy-going baby – we hope and pray that Noah will be able to achieve the same things as other children in spite of his condition,” Emma added.

The couple have set up the Baby Noah Trust with full details on their Facebook site.

Donations can be made to BNT at AIB Carrigaline, Cork A/C No 18162083 and Sort Code 93-43-13.

Source: Herald

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