Boy That Was Not Easy!
Since Getty’s diagnosis and later the creation of Getty Owl Foundation, I have felt as though my heart has really been focused on SMA awareness and helping families. I want the world to know that what has graced our family can happen to any family.
1 in 40 are SMA carriers, which is roughly 11 million people in the US that most likely, are unknowing carriers.
SMA is the #1 genetic killer of young children.
1 in 6,000 births are to a child with SMA. 60% of those diagnosed is to the most severe type: Type 1. Getty is type 1.
SMA is a pan-ethnic disease and does not discriminate based on race, ethnicity, or gender.
So why aren’t people flocking to a genetic counselor to get tested to see if they are carriers? Why is SMA carrier testing not part of standard of care? I mean, did you see the statistic of 1 in 40? Isn’t that enough to raise an eyebrow of curiosity to see if you are a carrier or, in the very least, educate yourself, your family, and/or your children?
I naively assumed people would flock to get carrier tested. I am sure some did, but my guess is that most have not. If this gives you any indication to why I think more people are not is because our own family members have not gotten tested.
None of them.
SMA is genetic. It lies in my family as well as Mark’s family. It lives among all of us in certain regards, not just with Getty.
We receive lots of feedback in general since creating the foundation. We get lots of great questions and have an overall terrific dialogue about SMA.
There are a couple of common remarks that keep popping up that I wanted to share:
-I couldn’t be a carrier, I have healthy children.
-There is no family history, so there is no way I could be a carrier.
-Maybe I am a carrier because there is muscular dystrophy in my family.
-I am a super active person, no muscle weakness, I am not a carrier.
Let me offer responses to these comments to help dispel any misinformation.
-Having healthy children does NOT mean you are NOT a carrier. If both parents are carriers, you will always have a 1 in 4 chance of having a child with SMA. There is always a 25% of having a child with SMA with each child.
-We have no known family history either and in the vast SMA community, we know of only two families that actually knew of any family history. If you go back far enough there may be a misdiagnosed SMA case in a family without even knowing it. SIDS could easily be an SMA case. Again, had I placed Getty on her tummy overnight, Getty easily could have suffocated with her diminished lung capacity and could have become victim of SMA without even knowing that there was something bigger going on. Had Getty contracted pneumonia before diagnosis, the acute care that is needed for a child with SMA might have gone unnoticed and she may not have made it through a sickness.
-Yes you should be carrier tested, but having history of MD in the family linage does not mean SMA is or is not present. SMA is its own recessive gene.
-SMA carriers are asymptomatic. This means carriers have no SMA symptoms.
So where am I going with this, other than trying to convince more people to get tested?
During Getty’s MDA clinic appointment a few Monday’s ago we got a chance to meet with our family’s genetic counselor. They have been a terrific department to work with and they continue to help us with Getty’s ever-evolving dietary needs. In this particular meeting we asked about genetic testing.
I wanted to take the genetic carrier test offered through our health care provider by the company, Counsyl. This carrier test covers over 100 possible genetic conditions/diseases.
There were a few reasons I wanted to take the test. One was purely out of curiosity/education. If it came back that I was also a carrier of other genetic conditions, I could alert my entire family that they also might be carriers of each or all of them. Another reason is because Mark and I have not closed the book on possible other future children. The more education we have of our genetic make up, the more informed decisions we could make. Only I was tested, not Mark. He would have only been tested if something came back positive from my test.
We paid out of pocket; insurance did not cover it. This, however, does not mean that all insurances plan will not cover it for others; but ours does not.
Our genetic counselor got the test, registered the test in my name, and handed it over to me. It took about ten minutes to go from, “I would like to be tested”, to, “Here you go, I will get you the results when they become available to us.”
I brought the blue box home and was actually excited to get started. The home test involves just collecting your saliva in a vial and mailing it off to a lab.
Oddly enough, I ended up not doing anything. In fact, I left it in a room and ignored it for several days. I would pass by it once in a while and I started to question whether I wanted to do it or not. Then something hit me.
Is this why many people do not get carrier tested for SMA and/or other genetic conditions?
Is it better to just not know?
Is there comfort to be out of sight out of mind?
Is it too emotional to know that one might actually be a carrier of a genetic disease/condition?
Many of those emotional thoughts did run through my head. One of the tests was for SMA. So I knew for a fact that I was a carrier to at least one, but what if I was a carrier of more? What do I do with this information, other than letting those in my family know that I am?
So after staring at the test for a week, I finally took it. I mustered up enough saliva to fill a tiny vial. I mixed two solutions together in the vial and packed it up in a pre-paid Fed Ex package to be easily shipped out.
Then the wait began.
I got the call yesterday and the Counsyl test showed I am not a carrier of any genetic diseases/conditions on the list, except SMA.
I was relieved.
I am glad I took the test. I am glad I know more about what lies in my genetic code, or rather, does not. This can only help educate my family linage.
There is an emotional aspect to getting tested. The phrase, “ignorance is bliss” seems to hold some weight I think in this department. I mean here I am, a known SMA carrier, with a child with SMA, and I even stared at that box for a good week before I just “went for it.” But now that I know, I feel empowered, and now I can educate my family. Education does feel powerful.
But boy that was not easy.
Because of your story and sweet Miss Getty, I went ahead and did the Counsyl test (mine was a blood test) when my husband and I began seeing a fertility specialist. It cost $99, but that’s worth it for me to know that I won’t be passing on any dangerous genes (that I know if!) to any children we will eventually have.
That said, part of my choosing to do so was because it was offered to me by my doctor. Had we not needed help conceiving, I don’t know that my regular OB/GYN would have given me any information about genetic testing, as we’re not high-risk for the “big” genetic issues like Tay-Sachs and sickle cell anemia.
More doctors need to be talking to their patients about genetic diseases, and insurance companies need to be more forward-thinking about their coverage for screening tests. I think that’s the only real way to make SMA carrier screening as common as it needs to be.
Thank you for your comment. From our experience with our health care provider there seems to be a disconnect between doctor and patient. We are trying to work with them to bridge that gap to at least offer a test, whether it is paid for or out of pocket.
I like your comment of forward-thinking. Let people have the option have the option to choose for themselves, but at least offer the education.
I hope in the near future we can bridge that gap on our end. I hope.
Kate – as always, you are such an inspiration with your tireless efforts to help other families even as you’re so busy caring for your own beautiful family. And your message is such a critical one.
Within the Jewish community, there is higher awareness of genetic testing given the prevalence of genetic diseases within the population (for example, Tay Sachs – 1 in 30 Ashkenazi Jews is a carrier; Canavan Disease -1 in 40 Ashkenazi Jews is a carrier) As a result, many of my Jewish friends underwent genetic counseling and testing prior to conceiving just as I did. To my surprise, I learned I was a carrier of the devastating Canavan disease. Thankfully my husband was not also a carrier. However, as a result of my testing, my brother and sister were also tested and learned they were carriers which we may have all passed on to our own children.
My hope is that with efforts like yours, the broader population will understand the importance and ease of getting tested.
Sending lots of love to you all and special kisses to sweet Getty. xo
We send our love to you and your entire family.
Thank you for such powerful education on concerns within the Jewish community. I was not aware of how high the odds were just within a community.
BTW, Getty loves her lady bug book. However, she gets a little upset with “her” when she stops moving. 🙂
Lots of love!!!!!