It was me, but I'm still thankful!
Yep, it’s true. I, Sarah Kasner, am the one who gave Caleb & Duncan Duchenne Muscular Dystrophy. I am the carrier, and I had no flipping idea. Quick Genetics 101 lesson. I am a female who has two X chromosomes, and one of my X chromosomes has a deletion of exons 6-17 in the dystrophin gene, unbeknownst to me. I’m thankful I’m a woman, because my other X chromosome has stepped in to save the day. When I conceived my children with my husband (I know, too much for social media), I passed along one of my two X chromosomes and Dan passed along either his X or his Y chromosome. Upon conceiving both of our children, I passed along my mutated X chromosome (50/50 chance) and Dan passed along his Y chromosome (50/50 chance), making these children boy boys, with no back-up X chromosome.
Boys have one X and one Y chromosome. If a boy has a mutated X chromosome, he does not have a back-up to step in and save the day like I have. So those boys are forced to go through life with their mutated X chromosome. Enter Duchenne Muscular Dystrophy in it’s truest and most severe form. Enter Caleb & Duncan.
Caleb was diagnosed in April, 2018 and it never even occurred to me that he had this genetic disease because of me. Spontaneous mutations are real and common. But when Duncan was diagnosed, I knew I had no hope. The chances of both of my boys having spontaneous mutated x chromosomes resulting in Duchenne, slim to none. So here I am, the carrier of a fatal (to males) genetic disease that I had no idea I had.
The questions that have gone through my head are insane, even though I would never want anything other than Caleb and Duncan in this world. I would NEVER change anything about my boys. They are miracles and they are angels. They are my saviors and my loves. They are my night and shining armor that get me out of bed every single day. And they make me thankful. I gave a fatal disease to my two sons, but I’m still thankful, even though I’m saddened daily.
Because of me, these boys will have a life that is extraordinarily harder than everyone else around them.
Because of me, these boys may never play sports.
Because of me, these boys may never have kids.
Because of me, these boys may not outlive their mom and dad.
The list goes on and on, but all of that will just beat me down.
I’m thankful for these boys that may never play sports, have kids, outlive their parents and that are required to live a hard life just to survive.
Holidays are different now because we are fearful that our holidays won’t be what we want them to be in the future. We let the sugar fairies enter and they eat more sugar than they should ever have. We let them get a night off of bracing. We cherish the time we have together as a family.
So today I am thankful, for the family that I have. Dan, me, my step-boys (AJ & Ben), Caleb and Duncan. Isn’t it better to have kids that will be with us for a period of time than none at all? No parent ever wants to think that way about their children, but that is our reality. But our family will continue to live in the moment and embrace the now.
Thank you for all that are allowing us to embrace the now and for supporting Kasners Kick Duchenne. We couldn’t do this without you!