So not much has changed personally for us since our last update, but if you're keeping up with the news at all, you will know that a lot has changed for SMA.
Avery, a little girl diagnosed with SMA type 1 on Good Friday this year, and her family created a blog called Avery's Bucket List. Within weeks, they were able to break through the media bubble and gain awareness that SMA families have tried for years to achieve.
I was shocked to learn that just days after appearing on CNN, Avery suddenly passed away from a collapsed lung which sent her into cardiac arrest. I was stunned and couldn't believe that her life ended so abruptly. My heart goes out to that family and my prayers are for peace and comfort to surround them. Obviously I don't know what the future holds and I am not God (or Heaven would already be here on Earth so we could all be free from suffering, death and sorrow). However, it was amazing to see the plans for Avery's life and death - and their impact on the SMA community.
Just days after Avery left this world, people have come together to donate $154,000 as of this evening to fight SMA through gene-therapy research - plus it will be matched by an anonymous donor up to $500,000!!! Families of SMA has also pledged up to $750,000 to the gene therapy program. Big things are happening and as I said on facebook, we are extraordinarily grateful to Avery and her family for getting things moving full steam ahead. SMA families around the world have been working for years and years to raise awareness and funding - hopefully this will be the momentum we needed.
There is a push for funding for the gene-therapy research and for SMA research in general since it is the genetic disease closest to a cure (according to the NIH). Also, there is a big push for SMA carrier screening for women who plan to be pregnant.
My OBGYN's office is currently offering the testing. I am so thankful it is being offered to women in the planning stages, but I am sad it is being offered to pregnant women. The reason I say that is because it leaves a woman (and spouse) with a terrible decision of killing the baby in the womb or giving birth only to know the baby will die early and the road ahead is rough. I know you can start treatment sooner, and it does give the family time to prepare and start learning, but my personal preference would be to have it happen exactly the way it did for us.
I had an amazing first pregnancy and delivery. My pregnancy was full of joy, excitement and love. My delivery was painful, natural and wonderful. Skylar was beautiful and we could enjoy every second as carefree ignorant parents when she was welcomed into this world. We still had hope for a healthy baby girl and big plans for her future. It was my only pregnancy that I will ever have. I am so thankful that I had a good one.
I would have been so sad to have my first and only pregnancy ruined by SMA. The worry, grief and anxiety might have taken over. I probably wouldn't have been as excited to buy things for the nursery, let alone push her out of me to enter into the world where she would slowly be taken from us.
All that to say, there is a petition that you can sign to get SMA carrier test screening as a standard for OBGYN offices. I have signed it because I don't want another parent to have to go through holding their child as they die in their arms from SMA - a disease that can be prevented through the knowledge of you being a carrier or not. Unfortunately, this petition also allows pregnant women to be tested as well. My prayer is that if a woman did find out she was carrying an SMA baby, she would have it, love it and learn from it. I can't imagine my life without Skylar. I am a better person because of her and our journey with SMA. I know for a fact my life would not be near as full as it is now (despite it feeling empty from missing her).
Sign the Petition!
As always, thanks for keeping up with the blog! Peace.
Avery, a little girl diagnosed with SMA type 1 on Good Friday this year, and her family created a blog called Avery's Bucket List. Within weeks, they were able to break through the media bubble and gain awareness that SMA families have tried for years to achieve.
I was shocked to learn that just days after appearing on CNN, Avery suddenly passed away from a collapsed lung which sent her into cardiac arrest. I was stunned and couldn't believe that her life ended so abruptly. My heart goes out to that family and my prayers are for peace and comfort to surround them. Obviously I don't know what the future holds and I am not God (or Heaven would already be here on Earth so we could all be free from suffering, death and sorrow). However, it was amazing to see the plans for Avery's life and death - and their impact on the SMA community.
Just days after Avery left this world, people have come together to donate $154,000 as of this evening to fight SMA through gene-therapy research - plus it will be matched by an anonymous donor up to $500,000!!! Families of SMA has also pledged up to $750,000 to the gene therapy program. Big things are happening and as I said on facebook, we are extraordinarily grateful to Avery and her family for getting things moving full steam ahead. SMA families around the world have been working for years and years to raise awareness and funding - hopefully this will be the momentum we needed.
There is a push for funding for the gene-therapy research and for SMA research in general since it is the genetic disease closest to a cure (according to the NIH). Also, there is a big push for SMA carrier screening for women who plan to be pregnant.
My OBGYN's office is currently offering the testing. I am so thankful it is being offered to women in the planning stages, but I am sad it is being offered to pregnant women. The reason I say that is because it leaves a woman (and spouse) with a terrible decision of killing the baby in the womb or giving birth only to know the baby will die early and the road ahead is rough. I know you can start treatment sooner, and it does give the family time to prepare and start learning, but my personal preference would be to have it happen exactly the way it did for us.
I had an amazing first pregnancy and delivery. My pregnancy was full of joy, excitement and love. My delivery was painful, natural and wonderful. Skylar was beautiful and we could enjoy every second as carefree ignorant parents when she was welcomed into this world. We still had hope for a healthy baby girl and big plans for her future. It was my only pregnancy that I will ever have. I am so thankful that I had a good one.
I would have been so sad to have my first and only pregnancy ruined by SMA. The worry, grief and anxiety might have taken over. I probably wouldn't have been as excited to buy things for the nursery, let alone push her out of me to enter into the world where she would slowly be taken from us.
All that to say, there is a petition that you can sign to get SMA carrier test screening as a standard for OBGYN offices. I have signed it because I don't want another parent to have to go through holding their child as they die in their arms from SMA - a disease that can be prevented through the knowledge of you being a carrier or not. Unfortunately, this petition also allows pregnant women to be tested as well. My prayer is that if a woman did find out she was carrying an SMA baby, she would have it, love it and learn from it. I can't imagine my life without Skylar. I am a better person because of her and our journey with SMA. I know for a fact my life would not be near as full as it is now (despite it feeling empty from missing her).
Sign the Petition!
As always, thanks for keeping up with the blog! Peace.
Hey Ashley,
ReplyDeleteI saw this story online a few days back and I had debated sending you the link. Of course it made me think of you, Kyle, and Skylar. I was sorry to hear a few days after that, that Avery had passed away. It is so terribly sad.
At the same time, I'm amazed at how someone so small could have such a powerful impact on the world.
As always, you and Kyle are in my thoughts. Love and hugs to you both.
xoxo Amanda