Genetic Disorders – Niemann Pick Disease
Alexis was a normal, happy baby until aged 3 months when her weight plateaued. After 6 months of medical tests, her parents received the heartbreaking diagnosis, Alexis had Niemann Pick Disease, a rare and fatal inherited metabolic disorder.
Alexis was born September 2007 and as far as we knew was absolutely perfect, there were no signs at all that anything was so terribly wrong. As she approached 3 months old she stopped putting on weight, I tried everything thinking that my milk was gone. Shortly after, we noticed she wasn’t progressing as other kids her age were; she could hold toys but never made any attempt to roll or sit up, even when supported.
At 6 months we took her to a paediatrician who admitted her to Sydney Children’s hospital for testing. After a month in hospital and more tests than I could count we were sent home without a diagnosis; at the time we took this as good news.
Alexis was fed via naso-gastric tube all night but never made it out of the ‘failure to thrive’ category. Every week we went back for a new test until Alexis was 9 months old and we recieved the news, Alexis had Niemann Pick Disease. We were told that Alexis would not live past age 3 and there were currently no treatment options available.
After hours on the internet and countless tears we let the rest of the family know that our beautiful baby girl was slowly dying and there was not a thing we could do about it. Niemann pick is a genetic disease passed on from both parents, because it is so rare the disease has never shown up in either of our families before.
Alexis is now 21 months old, she never learned to sit or stand and has now lost the ability to use her arms and legs, she has never eaten food and has not drunk anything herself since December 08.
My beautiful girl cannot smile anymore and this breaks my heart; her time is running out.
On Jeans for Genes day I am having a picnic to raise money for CMRI because as a mother I hope I can spare even just one other mother this heartache.
For many years Huggies® has supported Jeans for Genes® and to help encourage everyone, including babies and toddlers, to get involved. By purchasing Jeans for Genes merchandise you help us to raise awareness for Jeans for Genes Day and help to find a cure for genetic diseases.
Find out how you can get involved with Jeans for Genes.
Huggies would like to thank this mum for bravely, and generously sharing her story. We sincerely wish our best to you all.