Living with a genetic condition
When Annie was diagnosed with Type C Niemann-Pick Disease aged nine, her family was told she was unlikely to live until her teens. Her mother Kait tells us what it’s like living with this degenerative genetic condition…
“At first we noticed Annie was having problems with her school work, kept falling over and asking the same questions over and over again. She was sent for lots of tests. Eventually an eye consultant found she was having problems moving her eyes up and down and she was then diagnosed with Niemann-Pick Disease.
Being told Annie had a genetic degenerative disease where she would gradually lose her ability to talk, walk and do things for herself was heartbreaking for all of us. We were told that it would be unlikely that Annie would live to her early teens, but she is now 15 and doing well. Although we worry when she gets a virus as it takes her longer to get over it and seems to make her condition worse.
Only six months after Annie was diagnosed she started having epileptic fits. It was a real shock. We knew it could be one of the symptoms of the disease, but we weren’t ready for the 20 fits a day that Annie experienced. She went from being a bright and healthy young girl to having seizures day and night.
Annie’s father Norman and I took it in turns to sleep in Annie’s room as it wasn’t safe to leave her. We were exhausted from lack of sleep and worry. It took 15 weeks for the epilepsy medicine to build up in Annie’s system and begin to work. It was a terrible time.”
“We went on a family holiday around the time the medicine started taking effect and it was a great opportunity to rest, catch up on sleep and enjoy our time together as a family, without worrying that Annie might collapse.
We now go to Manchester for Annie’s annual check ups. The last check up showed that the liquids are going down the wrong way when Annie swallows and as a result she will have to have a gastrostomy tube. This news was a real blow to us and was yet another big dip in Annie’s life.
I gave up work to be Annie’s full-time carer, which is emotionally draining. I wouldn’t want it any other way but I am constantly thinking about what Annie needs next.”
Our support network
“Annie’s condition has brought the family closer together and we’ve been overwhelmed by the support from family, friends and strangers. Annie is very close to her brother Robert, 20. He treats her like any normal younger sister and teases her a lot – but Annie gives as good as she gets. We try and keep life as normal as we can.
We first heard about Sparks after a family friend, Tracey, took part in a 2011 Kilimanjaro climb for the charity. Medical research is so important for finding better treatments and cures for diseases like Niemann-Pick.
I know they won’t find a cure in time for Annie but I hope they do find one to stop other families going through the same experiences we have.
Sparks funds important medical research and so many people are oblivious to the cause. We want to thank Tracey and Sparks, and would like to help the charity get the recognition and support it deserves in order to help others in the future.”