Ella O’Keeffe is a brave little four year old girl from Swords, who is waging a courageous battle against a rare life limiting medical condition.
Ella, from Holywell in Swords is suffering from Neurofibromatosis (NF), a genetic condition that causes tumours to grow in various types of nerves, affecting 1 in 3000 people in Ireland.
To support people affected with NF, the association launched, the NF Fighter Campaign. The aim of the Fighter Campaign is to raise awareness of the condition and also asking people to nominate their ‘NF Fighters’, or family members for a well deserved award. Ella’s mother Louise wants to nominate her son Lee who helps his sister every day and explains why she thinks he should be chosen for the ‘NF Fighter Award.
Louise told the County Leader, “Lee doesn’t get as much time with me as he would like. A lot of my time is taken up with Ella between therapies and hospital appointments. This is why I’ve nominated him for the ‘NF Fighter Award’, because I would like to see him get some recognition for his amazing help and support. He is only 9 and most kids his age would not have the responsibilities that he has.”
“Ella was born with a rare, more severe form on NF which presents itself in many ways. She has a form known as ‘micro deletion’, whereby a chromosome is missing which causes the NF. Aside from the regular NF mentioned above, Ella’s conditions range from autism to curvature of the spine, severe gastrointestinal issues, multiple allergies, hyper mobility syndrome, joint abnormalities and significant motor delays.”
She contuinued, “Ella needs to attend specialists in each department for all the conditions she has, she also needs regular occupational therapy and physiotherapy. This is all hugely important in helping her to progress. Ella is now finally starting to use some words, as she attends a specialised autism play school called Jonix in Kinsealy, which has been fantastic for her.”
The Neurofibromatosis Association of Ireland (NFA) provide a comprehensive range of services including a 24-hour Helpline, but its primary aim is to inform sufferers and their families of the disorder and supporting them.
In light of Ellas’s initial lack of supports post diagnosis, Louise and another parent Laura Egan, came together and formed a support group called ‘RARE.’
“There is very little support available to parents post diagnosis. Not enough is known about rare conditions by many professionals and getting appointments with specialists can be difficult. I did however contact the NFA and within a couple of days, had the information I needed. She concluded, “We are providing family fun days out and more importantly offering support and raising awareness as much as possible. You can
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