The school taxi had dropped me off at my familiar stop. The wooden yellow mailbox by the side of the road, covered with first snow of October, crispy air which indicated the long winter was on its way. From the main road you could almost see our big yellow house, which in the afternoon twilight looked warm and welcoming, all that was left was the last few skips and a curve and I was home. At school that day I had barely kept my cool, all we had talked about was my 7th birthday – and who was invited. I remember wishing my mom a birthday cake – bananas and strawberry jam with whipped cream, which she had promised to bake. I rushed the last few steps, opened the front door and found my mom crying in the kitchen. “Your little sister has gone to heaven” she whispered quietly, as the tears ran down her face.
It was only 2 years prior that my other little sister was taken away from us way too early. Back in those days, (1970s) the prognosis to this extremely rare neuromuscular, genetic disorder now known as SMA (Spinal Muscular Atrophy) was very severe – the child would pass away before the age of 1. Both of my sisters carried the type 1 SMA, the most difficult of the disorder. What makes SMA so devastating is the fact that usually the child is born without any symptoms – perfect – as did both of them – it is only after a few weeks or months when the first signs of the disorder appear. As the name suggests – spinal muscular atrophy – it is a disease that steals the physical strength by affecting the motor nerve cells in the spinal cord; by taking away the ability to walk, eat, or even breathe. I have no memories of my other sister who passed away when I was 5 – except my mother and fathers grieving as they were now faced with another loss – and my confused, 7th birthday state of mind as I gently tried to comfort her and tell my school friends were coming over and we were gonna play outside in the first snow.
Somehow we managed to pull off the birthday celebrations. Somehow my mom managed to serve the kids with cake, treats and other goodies – and to this day, that birthday will remain the biggest mystery of my life. It was a day when life, death and unfortunate genes collided. It was a day that pointed the long path my parents embarked on, by starting support groups for parents who had lost their children. Were my sisters alive today, they would be severely disabled, wheel chaired and in need of 24/7 care.
SMA is a genetic disorder so in order to occur, both parents must carry the genetic defect. Even then, the chances of SMA are approximately 25% when the child is born. In our family´s case, 2 of us 5 siblings have now passed away to this rare, genetic disorder. There is still no absolute cure for SMA but new findings and research are well on their way – and hopefully in the future (as the gene science and gene therapy progress,) we are able to treat this disorder through medical technology.
If you are more interested reading and researching about SMA, please visit these websites for information:
Thankyou for reading this far. I am sincerely wishing you all an amazing rest of the year, thank you for reading our blog and hoping you will get to spend your Christmas´ with your most loved ones <3 <3