Kacie, 2, was diagnosed with Spinal Muscular Astrophy Type 1 at just six months old, leaving her unable to support her own head, sit independently, crawl, walk or even roll over. As her condition progresses, Kacie will need a tracheostomy, to support her to breathe and a Percutaneous Endescopic Gastroscopy, a peg into her stomach to assist her to feed.
Kacie’s parents, Nicole and Shaun’s routine is centred around their daughter, taking her to a chest physio at least three times per day to clear any secretions and focusing on her general needs as she finds her treatment very distressing.
Throughout the day Kacie loves to watch Mr Tumble J he really does make her smile! they very rarely get to go out as a family as in one word it is too “stressful” Nicole and Shaun worry incase she catches any bugs or if her lung plugs off when outside…in most cases by the time they are ready to go out after organising equipment etc…it is nearly tme for them to go back home for next lot of Physio! Such a lot of pressure for parents to cope with, Kacie can be a little chesty one minute, her saturations can drop, then she is blue lighted to hospital. These parents have never left their daughter….they watch her around the clock!
At night Kacie uses a BIPAP machine, this helps her breath, but every night is a battle as she hates the mask on her face. It can take up to 2 hours to settle her. Once Kacie is ready to go to sleep, her parents night shift starts as they need to turn her over up to 20 times through the night. They are physically and mentally drained….but they bless each day they have with their daughter and do whatever it takes to keep her safe.
Kacie needs 24/7 care, she has very little arm movement, is unable to move her positioning and her head needs to be supported like a new born. She is very prone to catching colds which very often leads to a chest infection then Intensive Care. Great emphasis is on protecting her immune system to keep her safe.
Kacie has a big sister Ava, Ava understands that her little sister is not well but she doesn’t understand that she will not be with them forever…the effect on the siblings is also so very hard. Ava spends a lot of time with her Grandma as her little sister is so very dependant on her Mammy and Daddy.
This family have not had any real “normal” family time since Kacie was born. Kacie is a very happy little girl, she understands what is going on, her Mammy wonders if this is a good thing, as things are going to get harder! 90% of SMA Type 1 children loose their lives before the age of 2.
Nicole, Kacie’s Mam commented: “It is so hard not knowing if she will see her birthday or Christmas, we are scared to plan anything, everyday we love her more”.