Fianna McHugh is four-years-old – she loves Peppa Pig and shares bunk-beds with her older sister Molly.
She says her favourite thing is feeling the wind on her face.
On the surface, Fianna is like every other little girl but once you dig a little deeper you discover she is living with a rare condition called Prader-Willi syndrome.
Just 100 people in Ireland have PWS – the symptoms range from short stature, learning difficulties and low muscle tone. Later in life, another part of this illness is a chronic feeling of hunger that can lead to excessive eating – which is probably the best-known syndrome associated with PWS.
Today in Dublin, the first national survey on the needs of those with PWS was released. The Health Minister was among those who attended the launch of the report which found that the lack of services in this area has added considerably to the burden of families and carers with PWS both financially and emotionally.
Simon Harris says there is no size fits all solution but that the support will be there for those who so desperately need it.
Fianna currently attends mainstream school but the level of resources will depend on whether or not she continues there. Her mum, Jackie, said she worries about the challenges that lie ahead:
“We were so lucky in that Fianna was diagnosed at birth – she was floppy and her movements were very limited. But as a result, we got linked in with the system immediately. She wears a sleep apnea mask every night which her sister faithfully takes off her face each morning, she also gets a shot of growth hormone every day. The also have to focus on diet management. Currently, Fianna has no increase in appetite but the important thing at this stage is to establish a routine so three meals a day and two snacks. Obviously, parties are a challenge but we have great family support and people roll out the veggie dips instead of the jellies.”
The association which represents those with PWS recommended the development of a residential accommodation for adults living with the condition. 16 people with the illness will require accommodation in the next five years and an overnight respite care centre is also on their wishlist.
Jackie says the future for Fianna remains unclear:
“We are hopeful there will be breakthrough’s in medicine so that Fianna can live a long and healthy life. I worry about how it might impact Molly, her older sister in terms of care – I want her to be able to travel and not feel like she has to limit herself. Fianna will probably require some level of monitoring as an adult, but we are hopeful she will have some independence. She is a strong, amazing, funny little girl – she is more than just her illness”
If you would like more information you can contact the Prader-Willi Syndrom Association of Ireland
