Making people aware of rare diseases

By Aideen O'Flaherty

THE family of a young woman with an incurable and rare genetic disorder met President Michael D. Higgins in Áras an Uachtaráin on Saturday for an event marking Rare Disease Day.

Serena O’Neill (25), from Ellensborough in Tallaght, met President Higgins and his wife Sabina with her sister Natasha (14) and her parents Sandra and Noel.

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Serena O’Neill (third from right), meeting President Higgins and his wife Sabina, with parents Sandra and Noel and sister Natasha

Serena was diagnosed with adult metachromatic leukodystrophy (MLD) – which typically has a slow progression and can present as progressive dementia – in July 2018, and her younger brother Dylan was diagnosed with the condition shortly afterwards at 20 years of age.

Both Dylan and Serena travelled to the Manchester Royal Infirmary last year to prepare to undergo bone marrow transplants, a pioneering treatment for the condition which doctors hoped would slow the progression of the disease, but Dylan sadly passed away last October following the transplant.

Serena, who is a past pupil of Coláiste de híde, returned home from Manchester last December, and now attends a number of hospitals around Dublin as doctors continue to monitor her condition following the transplant.

The Rare Disease Day event in Áras an Uachtaráin gave the O’Neills, and many other families from around the country, the opportunity to highlight rare conditions and to advocate for ways to slow the progression of MLD, and to get earlier detection of the disease.

“The day was very nice,” said Noel. “Michael D Higgins was an absolute gentleman and he spoke very well when he gave a speech.

“The way it was all handled was very good. We all went into a room with the President and his wife Sabina and we all had five to ten minutes to talk to him where he spoke to us personally.

“Serena, Dylan and Natasha all went to a gaelscoil, so Serena and Natasha spoke to the President in Irish.”

Explaining the importance of the day, Noel said: “We just want to get it out there and make people aware of MLD and other rare diseases.

“There are different forms of MLD, and one in five million people have it. With children’s MLD it’s more treatable, but with adult MLD the prognosis wouldn’t be as good.

“What Les [Martin, a father of two boys with MLD] is campaigning for is early treatment, so every child will get tested for MLD.

“If Serena and Dylan had been tested when they were children, they could’ve been treated then and we wouldn’t be having this conversation right now. They would’ve had a better chance of survival.”

Serena underwent a bone marrow transplant last September, and her family were told that it could take up to six months afterwards for it to start having an impact.

The young woman currently needs 24-hour care, and uses a wheelchair, but her family has seen some improvement since the transplant – and Serena is keeping upbeat through it all.

“Physically, she can’t do many things for herself,” said Noel, “but she is getting stronger, and hopefully if she gets enough physiotherapy she’ll keep getting  stronger. We’re hoping she will be stabilised.”

Noel also wanted to take the opportunity to highlight the importance of blood, platelet and bone marrow donation, and the difference it can make to the lives of seriously ill people.

“Without donors, lives can’t be saved,” said Noel. “Serena’s donor was a 17-year-old male.

“Dylan’s donor, a 30-year-old Swedish male, put himself forward twice to try to save Dylan’s life.

“It’s very important that people know this, so they can make themselves available to save lives.”

To find out more information about blood, platelet, and bone marrow donation, visit Give Blood.

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