Our story is a short one so far as our wee Charlotte was only diagnosed with Spinal Muscular Atrophy in April this year at 18 months old. So this is the start of our journey with her.
When Charlotte was born in October 2016 there was no indication of her illness. We started to notice slight tremors in her arms and hands at about 4 months old but put that down to her being excited as this is what her dad used to do as a baby. Charlotte’s milestones of crawling, sitting, standing and walking in the walker were only a month or so behind. When she wasn’t walking after 1 we weren’t too concerned but then she got to 16 months old and was still not walking unassisted. Her knees would also collapse and she had a funny hip walk when walking assisted.
We were referred to a Pediatrician. Charlotte had some blood tests done, a genetic test being one of them. Eight long weeks later with results in, the rare genetic disease Spinal Muscular Atrophy was diagnosed.
We were sent to see a Paediatric Neurologist who diagnosed Charlotte with type 2+. There are 3 childhood types and type 4 are adults.
Spinal Muscular Atrophy for her affects the muscles in her legs. She has been put on medication to put some ‘fire’ in her muscles and we have noticed an improvement which is exciting as getting around can be tough and very tiresome at times for her. She is not walking at 21 months.
SMA also affects her lungs. She had Pneumonia at 6 months old before her diagnosis. She has no breathing or eating problems for which we are grateful as there are many babies/children with SMA that do have such problems.
Despite all that, Charlotte is one very bright, smart little girl with a very sparkly sassy personality!!
There is no cure for SMA..There is a drug being made available for Type 1’s coming to New Zealand which has been shown to improving lives of these babies all over the world, it has not been approved for 2,3, or 4 yet…
We are so lucky to live in Auckland and have the Starship Hospital and the best doctors for her right on our doorstep. Charlotte has a little brother due next month he has a 25% chance of having SMA, 25% chance of not having it and 50% chance of being a carrier.
1 in 40 are carriers. 1 in 11,000 babies are born with Spinal Muscular Atrophy.
Thank you Cure Kids for caring about our babies/children, we as a family will do our utmost to help raise funds for a future for our precious children 💜
– Janine, Charlotte’s Nana