A mum was left heartbroken after doctors informed her that her "bubbly" baby daughter had just one month to live. Orla Haugh says she felt like she was "hit by a bus" after being given the harrowing verdict regarding her little girl, Ellen, reports Belfast Live.
Orla and her husband, Andrew, welcomed their daughter into the world last year. However, sadly, the Belfast couple had their family their lives torn apart within a few short months, after their baby developed a cough.
On a trip to the hospital, they received the devastating news that their baby girl, who they lovingly called the Queen of Co Down, had a very rare hereditary condition called Gaucher Disease type 2. According to the Gauchers Organisation, type 2 Gaucher disease is a very rare, rapidly progressive form of the condition, which affects the brain (central nervous system) as well as the spleen, liver, lungs and bones.
Doctors then informed the parents that Ellen would likely pass away within a month. Their darling daughter passed away in September 2022 at just seven months old. Her mother says the news was excruciating, as just hours earlier she had been laughing and having fun with Ellen while they made their way to the hospital.
Orla said: "Two days prior to the devastating news we were on a holiday together in Canada and felt like everything was perfect and I can't believe how drastically things changed in the space of 48 hours. Ellen was the most beautiful and bubbly baby girl with a fabulous and nosey personality and even when we were driving to the hospital to have her cough checked out we had been laughing all the way there.
"We were actually just about to leave when I mentioned to the doctor that she had a very hard stomach at the time and they went away and did some tests and when they returned, I just knew we were about to get bad news, but I never could have imagined just how bad it was.
"We discovered that she has a form of Gaucher Disease, which is a hereditary condition that effects her nervous system, liver and other organs, and means she cannot process fats properly. It is an extremely rare disease and came from me and Andrew both having a gene that would give any of our children a one in four chance of developing the condition.
"Sadly, while there are cures available for type 1 Gaucher, there is not for type 2, although there is research ongoing into the treatments. Ellen's condition went downhill quite rapidly after that and we are very thankfully for all of the hard work of the doctors and nurses who helped her in her final days and made sure she did not suffer."
Orla hopes that telling her story can help raise awareness about the dangers of Gaucher and other hereditary and metabolic diseases. She says that ongoing research into gene therapy could be the solution to providing a cure for it and other conditions.
As part of their efforts to raise awareness, her husband and her brother are going to be running the Belfast Marathon. Andrew is wearing a 10Kg weighted vest in memory of his daughter, who would have roughly weighed that if she was still alive.
Orla said: "We just want to spread as much awareness about the condition as possible in the hopes that it can maybe help any other parents who are going through a similar situation. Sadly, there was nothing that could have been done to save Ellen, but if we can do anything to help anyone else in the future then we will."
The family are raising money for The Gauchers Association in order to support research into the condition, with donations being accepted via their JustGiving Page.
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