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Mum hoping to treat son's rare illness in US slams waiting list here

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Megan O'Callaghan with her son Tommy, one of only five children in Ireland with the syndrome known as 49,XXXXY

Megan O'Callaghan with her son Tommy, one of only five children in Ireland with the syndrome known as 49,XXXXY

Megan O'Callaghan with her son Tommy, one of only five children in Ireland with the syndrome known as 49,XXXXY

The mother of a one-year-old boy with a rare syndrome says she is taking him to the US for treatment as the waiting lists in Ireland are too long.

"We have been told it could be months or even years before Tommy can see an endocrinologist," said Megan O'Callaghan.

Tommy, who is the younger brother of Teegan (4), Ella-May (6) and Laura (19), was born four weeks premature, but doctors knew there were problems before he was born.

"From 29 weeks I was seen weekly when I was pregnant and Tommy has fought to survive from the minute he was conceived," Megan said.

"He was admitted to the special care baby unit when he was born and the first time I held him, I knew that he was special."

An ultrasound revealed Tommy had cysts on his brain and Megan and husband Thomas thought he could have cerebral palsy.

However, in January they were told that he was one of only five children in Ireland with the syndrome 49,XXXXY - which also includes a deficiency in testosterone.

Pneumonia

His condition means he has very poor muscle tone, could have an intellectual disability, is at constant risk of choking and catches infections all the time.

"He has had double pneumonia three times since November and gets very sick very quickly," Megan said.

Tommy has just celebrated his first birthday and Megan said there is no doubt who is in charge at their home in Drogheda, Co Louth, saying: "We call him the boss baby."

Megan and Thomas have researched how quickly they can get Tommy the treatment he needs and a specialist in the US has emphasised how important it is that he receive injections of testosterone.

He needs them monthly for three months and then another as he approaches puberty.

"There is a doctor in Baltimore who can see us within weeks and although we have a medical card and Tommy has got early intervention here, we will be waiting months if not years for an appointment with an endocrinologist and for a genetic specialist."

They have set up a fundraising page to cover the €3,500 cost of flights and accommodation for an appointment.

"Time is key here. Our son does not have months or years to wait to see an endocrinologist in Ireland," Megan said.

"We will do what is best for our boy and I would feel like I have failed him if I let this go.

"We have been overwhelmed with the support we have got so far. People in our town and community are fantastic."

Donations can be made via Facebook, and the couple hope to hit their target and see the specialist before the summer.


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