Today a friend sent me a link to a blog for a little girl with SMA (Spinal Muscular Atrophy). She is 5 months old, she has been given a life expectancy of less than 2 years old. SMA is a genetic disorder that has no cure, it's currently the #1 killer of infants. But nobody seems to know about it.
The blog brought two things to my mind. I'll write about the less pleasant part first (I guess if you ask me if I want the good news or the bad, my answer is usually to start with the bad... I like to end on the upside in life). I wonder if there was more genetic screening and then some genetics tests that could be done during pregnancy if that rate would change? It wouldn't change because they could do anything for that child, it would only change because parents would have the choice to avoid the pain associated with loosing that child. The pain that comes from walking an uncertain path with a defined ending.
That doesn't seem to be the parents reasoning for the testing, their focus in just on parents making choices (whether to use In Vitro instead of the old fashion way). Unfortunately most blood work is done after you already know you are pregnant (although there are those planners who probably do testing when they decide to start trying for pregnancy). But I feel certain that the reason SMA is the biggest killer is because when a chromosonal problem is known about during pregnancy 75-90% of parents choose to terminate the pregnancy (I've read that it's more specifically 85-90%). The parents only had a 1 in 6400 chance of having a baby with SMA. Trisomy 18 occurs in 1 of 6000 births. But that number is off if you consider the number of terminations.
My heart breaks for any parent that has to face the loss of their child. I think I'm getting a bit off of the point as I continue to ramble... so onto what I love about the blog.
This family has embraced the days that they have with Avery. They have a bucket list for her. They post and focus on the items that she has crossed off of her bucket list (getting picked up by a firefighter is definitely a highlight :) ). It's great. The writing is upbeat and funny. I'm sure they face pain, I know they face sadness. I love that they are also choosing to let her really live and embrace her life. Here are some quotes from the blog:
Whatever I bring to life, because I don't have time to wait for life to bring anything to me.
Don't forget to share my story with everyone you know! But make sure when you tell people about me, you tell them I'm not dying, I'm living...and they should be too!
Such powerful and important words. I can't wait to apply those words to my life so often that they become a natural mantra. Thank you to Avery and her family for the important lessons.