Adam O’Shaughnessy is believed to be the only person in this country with Fibrodysplasia Ossificans Progressiva (FOP) The disease affects about one-in-every-two-million people.
The three-year-old, and his mother Antoinette, spent a week in Pennsylvania where he was seen by a leading specialist.
Antoinette, from Meagher Close, Prospect, said: “It was the first time we have met other families and children who have FOP. It was great to be able to share our experiences and Adam had a very good time with his new friends.”
With FOP, tissue progressively turns to bone, making it harder for Adam to move about.
While in Philadelphia, Adam underwent extensive medical tests by the leading world specialist in the field, Dr Fred Kaplan. Dr Kaplan is doing extensive research into FOP at the University of Pennsylvania.
Antoinette said: “They made a very significant breakthrough recently when they discovered the gene which causes FOP. This the first step in trying to find a cure.”
While Antoinette and Adam were in the US, dad Bernard remained at home with Adam’s brothers Aaron, 12 and Nathan, 6, along with sister Jessica, 13.
On arriving home Antoinette said the recent breakthrough with research in Pennsylvania had given them new hope.
Fundraising for Adam’s plight has taken place on both sides of the Atlantic.
“We are extremely grateful to everyone who has helped us. Every little bit counts. My aunt, Marie Carey who lives in New Jersey came up to meet us and she has also organised events in the States for us,” said Antoinette.
The O’Shaughnessy family are moving into a bigger house in Carey’s Road. Antoinette said: “We needed a bigger garden as we want to put in a hydrotherapy pool for Adam as the more time he can spend in a hydrotherapy pool, the less stiffness he will have.”
* To donate to Adam’s FOP appeal contact AIB, 106 O’Connell Street, Limerick, a/c no: 21206180, sort code: 93-52-47.