SMA 1 is the #1 genetic killer of children under 2. There is currently NO treatment or CURE!
Princess Chloe came into the world on 9/03/06, full-term and weighing 6lbs 14oz & 18-1/2 inches long. There were no indications of anything being wrong with her until we noticed she wasn't meeting some milestones such as holding her head up or rolling over.
We were referred to a Neurologist who confirmed the diagnosis of SMA type 1 with a genetic test. 1 in 40 people carry the gene that can cause SMA but both parents must be carriers (99% of the time) to have a 1 in 4 chance of having a child with SMA. 1 child out of every 6,000 - 10,000 children born (around the world) are born with it. There are several types; Type 1 being the most extreme.
Spinal Muscular Atrophy is not curable or treatable. It affects the voluntary and involuntary muscles in her body (in layman's terms) her muscles shrink and die and she will get weaker and weaker with time- and will never improve. She cannot swallow (aspirates everything including saliva), cough, eat, move, talk, play or breath on her own.
SMA DOES NOT AFFECT HER COGNITIVE ABILITIES. Most Neurologists have confirmed SMA children are actually SMARTER than average- which makes it 'fun' to keep these angels entertained!!! ;)
She is on a ventilator 24/7 (complete respiratory failure since she was 7mos old), eats through a G-tube, has breathing treatments every 4-6 hours with a cough-assist machine, albuterol treatments and a suction machine where I have to suction all the saliva that she is aspirating constantly and I suction her as needed throughout the day.
We change her position throughout the day and night since she cannot move (at all) to keep her from getting sore. She has O.T., P.T., Speech Therapy, Playgroups amongst other regular follow ups .
MOST Important facts are SHE LOVES to be read to, watch Elmo, is a Noggin Head, loves to interact with her eyes and LOVES being LOVED!!!!
We love her very much and are determined to do all we can to keep her here and happy. She is a quiet, sweet-tempered angel who has changed our lives- to the extra-mile and she is teaching us what LOVE is!
Thank you for reading my story and maybe you will tell someone about SMA type 1 and if more people are aware then maybe one day there will be a treatment or a cure!
God Bless You and thanks again for reading about our precious Chloe!
I have terrible news. Tonight, shorty after her bath, Chloe got a plug in her trach. It's something that she normally snaps right out of, but tonight she crashed and I couldn't get her back. She died around 8:30pm.
Thank you, everyone, for the support you have given us. Chloe did not live a long life, but she received enough love for a thousand lifetimes.