It’s been a little over a year since we received Sophie’s diagnosis, or “d-day” as referred to in the SMA community.
As we reflect back on how we got to that dreadful day, we often come back to the same thought… one that has been described by many other families in the SMA community: No parent should find out that they are a carrier for SMA for the first time at the moment when their child receives the diagnosis.
What do we mean by that? Well, for those new to SMA:
· It is recessive hereditary disease – meaning that parents who carry the ‘abnormal’ gene that causes SMA do so unknowingly unless they have been tested.
· Sophie had SMA because both of us are ‘carriers’ for the disease – meaning we each have one normal, and one abnormal, SMA related gene (SMA only impacts a person if both of their genes are abnormal). However, we were never offered ‘carrier screening’ before or after Sophie was conceived, and each of us unknowingly passed the abnormal gene to Sophie.
· If both parents are carriers for SMA, there’s a 25% chance any child from them would have SMA.
As highly effective carrier screening tests have been available for over 10 years:
· Adults should be tested to see if they are a carrier for SMA (and other recessive diseases such as Cystic Fibrosis) either pre or post conception.
o Testing is available through a local OB-GYN or genetics group.
o The female is typically tested first - if she has one abnormal gene, the male is then tested to see if they are both carriers.
o Baby can also be tested early in the pregnancy.
· Post conception testing is very important if both parents are carriers: (i) If baby has SMA and pregnancy is continued, a care plan and resources can be lined up before birth; (ii) If baby does not have SMA, parents are now aware of the risk of SMA and options for future pregnancies.
So, given that effective carrier screening is available – even if it is not well utilized by the general public due primarily to a lack of awareness of SMA amongst the general public and medical communities (a disappointing reality that we’re focused on changing) – this means:
· A parent should find out that they are a carrier for SMA when they are tested… not when it’s too late and they have a child who has been diagnosed with it.
· SMA is nearly 100% preventable. That’s right, preventable.
· ~1 in 40 people are carriers for SMA. This means there are likely a number of carriers in your own neighborhood, workplace, grocery store, etc. Do you know if you are a carrier?
For those who are new to SMA, here are a few links that provide more information on Sophie’s Journey and SMA:
· Initial entry to our blog after receiving Sophie’s diagnosis that explained more about SMA and our approach for Sophie’s care: http://sophies--journey.blogspot.com/2011/05/sophie-our-beautiful-daughter-sophia.html
· Claire Altman Heine Foundation website, which provides not only basic information on SMA, but also terrific information on carrier screening: http://www.clairealtmanheinefoundation.org/
How can people help raise awareness for this terrible disease and the availability of carrier screening option?
· See link for a one page summary on Sophie’s Journey, SMA, and carrier screening: https://docs.google.com/open?id=0ByfQMyWzNQU-aV9DU0dhYnhhd0E
· Please pass this attachment (and/or broader message) along to your friends, family and anyone expecting or considering having children. Increasing awareness for the disease is crucial to increasing the number of carrier screening tests that will be performed, which will directly help prevent other babies from suffering from SMA.
· Please discuss SMA with your OB-GYN during your next routine appointment (or sooner!) and encourage them to discuss carrier screening options with the general public.
o While the American College of Medical Genetics and Genomics recommends SMA carrier screening for everyone, others in the medical community (including some OB-GYNs) are not as aware of SMA, its devastating impact on children, and the carrier screening options that are available. Please help us change that!
· Please let us know if you have any questions or ideas to help increase awareness for SMA and the carrier screening options.
Thank you for all of your continued support!
- Liz & Mike TerHorst
This is a great, informative post. Thank you for sharing Liz!!
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