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A Selfless Gift

From Kate:

It is a very tricky subject to approach your parents to take an SMA carrier test. On one hand there is an extremely emotional aspect to it. Part of me wanted to not ask my parents to do the test. I thought, “what is done is done, why put them through this?” My original thought was that since Getty had SMA, the likelihood of another family member having a child with SMA is slim to none. I didn’t want either of my parents to feel the burden of knowing that they had in fact passed down the SMA carrier gene down to me. I didn’t want them to feel an sense of discomfort. All I knew at the point Getty was diagnosed was that Mark and I were both carriers and WE were the ones that transferred SMA to her. It was on us.

Then I started to read more. I started to really understand the situation and it became very clear to me that I was going to ask one of my parents to take the carrier test. There was something in me that was leaving the emotional attachment and thinking more logically and practically. I do care if this gene delineation passes along throughout my family line. I do want to know whether it came from my father’s line or my mother’s. Why you may ask? Because of this.

I would like to thank Jadon’s Hope Foundation and B4SMA Productions for creating this awesome statistic chart. It hit me like a ton of bricks.

If you have a parent who is a carrier, you have a 1 in 2 chance of being a carrier.


If you have a brother or sister who is a carrier, you have a 1 in 2 chance of being a carrier.


If you have a niece or nephew who is a carrier, you have a 1 in 4 chance of being a carrier.


If you have an aunt or uncle who is a carrier, you have a 1 in 4 chance of being a carrier.


If you have a first cousin who is a carrier, you have a 1 in 8 chance of being a carrier.

I would greatly appreciate if everyone reading this blog post could take a second to let this all sink in. I am not only speaking to my entire family, I am speaking to the world at large. Spinal Muscular Atrophy not only affects our family, but it has the potential to affect anyone’s family.

Here are the facts of my side of the family:

-Either my father or my mother passed the carrier gene down to me.

-Or they are both carriers and had a 1 in 4 chance of having a child with SMA and my brother and I were not affected, but I am a carrier and the likelihood of my brother being a carrier is 1 in 2 chance.

-There is no prior history in my family with SMA.

-My great-great grandmother had 12 kids, only one survived infancy.

So that is what I know. Little to no history to grab from and say beyond a shadow of a doubt, “yes that is where the SMA came from”. Perhaps some other people might be in the same boat.

1 in 40 people are carriers. That is a fact! SMA does not care what nationality you are, what race or gender. It simply seeps into your family genetics and pops up at will.

I got a chance to meet some incredible people a few months ago that run a organization called JScreen. They focus on genetic testing and then they take to another level. I can’t tell you how often we get emails that simply ask us (Getty Owl Foundation), “how do I get tested?” “I don’t know where to start.” I hope this is not sounding like a sales pitch, but JScreen is where I send people now. They do everything for you, except for the actual saliva specimen for the test. 🙂

Last week I went on their website and requested a carrier test for my dad. They asked some medical questions, you pay a small fee, they get in touch with your doctor and the test is sent to your home. Done and done!

We find out next week whether my dad is the SMA carrier. If he is not, then it would be my mom. Regardless of who it is, what we will now have is a wealth of information for my immediate family as well as my extended family. I am so proud of my dad. He is such a special person in my life and for him to selflessly take the test for me was such a wonderful gift.

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  • Nicki says:

    Thank you for sharing this post. It truly is a gift when I family member offers to get genetic testing. So far, the only one is my Mom and we’re still awaiting her results. I will look into this JScreen. It sounds so simple compared to all the genetic counselling we’ve had to go through just to get tested.

  • Alejandro Mojarro says:

    This was very interested. I never really thought about it because my thought was just, Diego has it and now it’s just to move forward. I don’t have communication with my bio dad ad he left us when I was 2 yrs old but I am not sure how to ask my mom to do it. She is a very sensitive person and I definitely don’t want her to feel like it was she who passed it to us. I will think about a way to ask her. Thanks for sharing

  • BJ Mirabile says:

    did insurance cover your dad’s carrier testing?

    Thanks for all this info, it’s very helpful!

  • Shannon says:

    To everyone reading this – use endsma as your coupon code when you order your JScreen test. If we can get enough Getty Owl Foundation will receive a donation.

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