Yesterday was International Rare Disease Day, which has been celebrated in Ireland since 2008.  Deputy Broughan consistently raises the issue of rare diseases and access to medicines and treatments for various rare diseases in Dáil Éireann.

According to the HSE website “A ‘rare disease’ is defined in Europe as a life-threatening or chronically debilitating disease affecting no more than 5 people per 10,000. There are an estimated 6-8,000 known rare diseases affecting up to 6% of the total EU population, (at least 30 million Europeans), and perhaps up to 300,000 Irish people during their lives.  Conditions such as Cystic Fibrosis, Haemophilia and PKU are familiar to many. There are many other rare and ultra-rare conditions. The biggest bulk, however, of the presenting conditions are accounted for by about 350 conditions. Approximately 80% of these conditions are genetic and although a high proportion present in childhood, many also present for the first time in adulthood”.

Yesterday, the 28th of February, Deputy Ó Caoláin of Sinn Féin held a briefing in Leinster House of people with Spinal muscular atrophy (SMA) and parents of children with SMA.  The matter was then also raised during Leaders’ Questions by both Sinn Féin and Fianna Fáil.  The briefing was very emotional, as was the briefing hosted previously by Deputy Lisa Chambers.  Deputy Broughan was very disappointed to learn of the HSE’s wrong decision not to fund access to Spinraza announced last week.  Deputy Broughan believes that if Fine Gael officials had been at either of these briefings and met with the people and families affected by SMA and helped by Spinraza the Government would not delay in ensuring that this essential treatment is made available immediately.

Personal testimonies yesterday showed that Spinraza would be life changing and life prolonging for the people with SMA.  We also need to ensure that the HSE is negotiating for all cohorts of SMA and not just children.  The articulate 21 year old student, who spoke at the briefing today, is deteriorating year on year and this will worsen rapidly without Spinraza.

Deputy Broughan says “I understand that there are conflicting priorities for limited funds but, in the overall scheme of the Health budget, this is a tiny amount that will make a huge difference to the lives of people with SMA, in fact it will literally save lives.  We cannot put a price on people’s lives.  Pharma companies have a responsibility to price medicines affordably and fairly and not use the lives of young children as negotiation tactics.  Similarly, Government cannot allow people to die because the HSE are not negotiating effectively, especially when other European countries, such as Scotland, are providing treatment to the smaller cohorts of children and people with rare diseases.”