03/06/2013
For those who have not seen it yet, this is a brief story about a little girl with SMA type 1.
"'Nevertheless, I will bring health and healing to it; I will heal my people and will let them enjoy abundant peace and security.” Jeremiah 33:6
Today is National Rare Disease Day which brings to perspective one of the founding reasons for this page…to raise awareness for Spinal Muscular Atrophy. Through Charlotte’s story, struggles, trials and tribulations, we can increase knowledge and understanding of SMA and its devastating effects. SMA is considered a “common rare disease." Common, because globally 1 in every 40 people are carriers of the SMA gene. Rare, because less than 200,000 people in the U.S. are living with SMA. Mainly, because as the #1 genetic killer of young children... many never get the chance to grow up. 90% of children diagnosed with SMA Type 1 do not live to see their 2nd birthday, with 80% dying before their 1st. 1 in every 6,000 live births worldwide are affected by SMA and there are 7.5 million Americans who carry the gene, however most have never heard of this devastating disorder. Charlie and I hadn’t and never imagined we had a 25% chance of having a child with SMA when we joyfully celebrated our 3rd pregnancy. When Charlotte was diagnosed, we committed to join the fight along with so many other strong, courageous families, against this tragic disorder. While we watch our brave little girl struggle against the tyrant that will keep her from ever rolling over, sitting up, crawling, walking or running with her sisters, we cling to the hope that a cure CAN be found. Charlotte needs a machine to cough for her, suction her, and feed her and she will eventually be robbed of her ability to breathe on her own but she continues to persevere. While, SMA robs her of so many abilities, it cannot steal her joy. Our little girl radiates with a happiness and pure exuberance that renews our faith every day. We vow to fight with her, but we cannot do it alone. We need activists, advocates for our sweet baby and the 13,000 sweet souls that are lost every year to this horrible condition. Share Charlotte’s story, tell others about Spinal Muscular Atrophy, spare another family from the surprise of such a nightmare, and help us realize the dream of a cure.
