Sarah and Matt lost their beautiful baby girl to SMA; Rowan was just 18 months old and her story can be read here. Sarah contacted me through twitter to offer to share her thoughts on the introduction of carrier screening for SMA and I am only happy to share them here. If you want to share your thoughts, please get in touch with me.
"I could not imagine having to go through again, what Matt and I went through when our daughter Rowan was diagnosed with SMA type 1b and subsequently died of the condition in November 2012 at just 18 months old .
There are thousands of people walking around the UK who are carriers of SMA and they have never even heard of the condition.
Although I would never be without the special time we had with our beautiful girl I also would not put myself, my family or a baby through the heart ache and pain of dealing with such a cruel genetic condition.
Like Downs syndrome if SMA carrier testing was done on mums to be in the early days of pregnancy they could make an informed choice about continuing with the pregnancy or making the difficult decision to terminate if the baby was found to have SMA. At least this way they are informed . Being told your baby has a life limiting condition is truly devastating and I would not wish it on anyone.
Every woman in the UK has the option of having their pregnancy tested for some chromosome abnormalities some that cause significant disabilities and health conditions however none are as severe as SMA which is the UK biggest genetic killer of under 2’s. So why is prenatal testing so readily available for those and not for SMA?
Carrier testing would be a stepping stone for parents; if they were found not to be a carrier then great, things carry on as normal. However, if parents are found to be carriers at least something can be done and options explored.
Being given a diagnosis of SMA is a death sentence to a baby and so difficult to deal with. Carrier testing would help parents to make informed decisions and not have to go through the pain that unfortunately Matt and I and many parents of SMA babies have had to go through."