Next Monday is Rare Disease Day, the main objective of the campaign is to raise awareness among the public around rare diseases and to make an impact on people who suffer from them.
Tuesday’s show had a segment focusing on people living with rare diseases.
RTE Journalist Brian O’Connell spoke to two people with rare conditions who have been able to gain access to pioneering treatment in Ireland.
It comes as Cappagh Hospital has been struggling with funding and The Minister for Health Stephen Donnelly has said he is making an extra €19m in funding available for children who are in need of orthopaedic surgery.
Cappagh Hospital has been allocated part of a €19 million funding package for healthcare.
Brian met with guest Ella, 13, a secondary student from outside Bandon, Cork, who was born with a condition called Achondroplasia, a condition that describes people of short height.
In Ella’s case, she is 4ft 2, and treatment options are usually aimed to improve the quality of life in patients. But treatment options were quite limited.
Brian discussed with host Philip how specialist care and surgery at Cappagh Hospital meant life has been changing for Ella.
Speaking to Brian, Ella discussed her condition and said: “To make my arms and legs longer, so I would be able to reach things, instead of using a step, they put a rod inside your leg, and it stretches the bone, I grew 12cm in my legs.”
Ella’s mam Kay filled with emotion spoke to Brian: “We started our journey in 2018, we met with Conor Greene, he spoke at length with Ella, saying ‘why’ did you want this surgery, it’s not something we rushed into.”
The surgeon with who Ella had a consultation prior to surgery, asked her to make a list of reasons ‘why’ she wanted the surgery.
Kay described Ella making out a list for the consultant on reasons she wanted the surgery, “Ella wanted to be able to reach things, she wanted to be independent, as she gets older as a female, she wants to be able to do things for herself.”
The proud Mam added: “He marked her leg where she would have scars, he told her to go off and think about it, after a year we went back, and she said she wanted to do this.”
“Ella is living in a world for average-sized people a little person isn’t thought of, so everything is at a higher level.”
“To hear your daughter laugh when she can reach the light herself, she turned on every light just because she could,” she said.
Brian stressed that one drawback for the family, or any family is having to travel up to Dublin for specialist treatment, taking a day off work, something that is just unavoidable.
Second guest John Purcell, is an international referee with FIFA for 20 years, has a lifelong condition that has created issues for him throughout his life.
John thinks he inherited the hand condition from his grandmother who was born in 1875 with a rare hand condition.
Some relations of his family have the same hand condition, including his son.
John got various medical opinions over the years, he was told “Sorry, we can’t do anything”.
A chance encounter with a Consultant Orthopaedic Surgeon, Grainne Colgan, who specialises in hand and trauma surgery, led John on the path that has changed his entire life.
John described how he has a new pair of hands, he said: “I’m 72, and I’ve just got myself a brand new pair of new hands”
“I was born with what’s called short tendons, as was my brother, Grainne Colgan thinks there are only 12 families worldwide that have this condition.”
“I couldn’t open my hands to shake hands with someone, or to lift a pint of Guinness, or to salute or high-five someone,” he said.
He described 2 years ago when he was accompanying his daughter for an MRI scan appointment in Cappagh Hospital, he joked with his daughter’s surgeon, “you don’t do hands, Noelle, do you?”
His daughter’s surgeon said, “I don’t, but I know someone who may help you, Grainne Colgan.”
The surgeon came back instantly and said she could help John.
Ms Colgan opened his hand up, took out 5 tendons, took an inch of each tendon, she joins the tendons with microsurgery, puts them back in and attaches them.
John filled with emotion said: “I look at my hands after 70 years, I’m gobsmacked to think it’s never been done anywhere in the world, to think I can clap, at 70, I just can’t tell you the difference, it’s jawdropping.”
It sounds very straightforward, he got various medical opinions, he thought he might get surgery in the 80s, it was such a rare condition that it stumped the medics.
Now John’s son can schedule the surgery with the surgeon Grainne Colgan.
The surgery completely changed John’s life.
Presenter Philip said: “Imagine going 7 decades without being able to use your hands, then suddenly getting used to them.”
Brian spoke with Connor Green, the paediatric orthopaedic surgeon at the children’s Temple Street hospital and Cappagh Kids.
Connor had been before the Oireachtas committee after the issue of scoliosis had been raised, he had been looking for the past few years for additional surgery, to increase the number of surgeries being performed at Cappagh.
He felt he could increase surgery by 400% depending on the required funding. It would be scheduled, and not acute care.
Mr Green told Brian about the various surgeries that can now be performed for children like Ella.
“The techniques developed in Russia in the 80s and 90s have spread through Italy, America, to Ireland, we can now lengthen these children's legs over a number of procedures, it’s about giving a child the best function we can.”
He added: “It’s a really rare condition, most children with Achondroplasia, or below average height, they may never meet another child like them, with those children we are able to lengthen their arms between 14 and 15cm, we draw the scars on, we introduce them to other families.”
Speaking on the funding, Connor said: “It’s a really positive engagement from minister Donnelly, we’re not looking to solve all the problems, we’re going to focus on two groups, scoliosis, and spina bifida group. What’s really nice is part of that 19 million funding is going to be given directly to Cappagh.”
We are going to be able to make a significant change in the treatment of children with Spina Bifida and Scoliosis.
In Temple Street, there has been funding allocated for a protected ICU bed too.
Due to waiting lists have been creeping up. The Children's ombudsman has a person dedicated to just scoliosis due to the volume of complaints.
The 19 million packages are going to have a huge impact on healthcare for children and paediatric waiting lists.
Last April saw a new orthopaedic ward has opened at Cappagh Hospital. “Cappagh Kids” has 16 beds and will help alleviate waiting lists for surgery and day care.
The public is encouraged to show solidarity with people suffering from rare diseases next Monday or Rare disease day by posting a photo on social media and using the hashtag #rarediseaseday.
