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DNA Test
I met with a genetic counselor last week, who said that I needed to get retested for SMA. They found the results of my genetic test from 1996, but need to know how many SMN2 copies I have. I’ll let you know when I hear back about the results!
Have you ever taken a DNA test for SMN2 copies?
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7 Replies
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I had to do the same to get Spinraza. Turns out I indeed have SMA as I have 0 SMN1 and 3 copies of SMN2.
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They had to search for mine, I had never been given a copy. 0 SMN1 more than 4 SMN2. The genetic test results were rather crude as they were run in 1996, but it was determined that they were “good enough”.
I was diagnosed in 1976. When I was diagnosed there was no DNA test, biopsy was king. I had that done twice with no anesthesia either time. The first time I was put into the hospital for the night, the second I drove myself there and drove home after, still have both scars.
Until I had the DNA tests most of my doctors considered my diagnosis wrong because I wasn’t following a typical pattern of loss.
The good news for all kids being diagnosed is that the DNA is pretty simple now.
How long do they expect them to take Brianna?
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Similar to the comments above, I had a DNA test when I embarked on my Spinraza journey. My diagnosis came through a biopsy as well in 1991. I have 0 SMN1 and 3 copies of SMN2.
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I had a biopsy in about 1990 that came back inconclusive. I was just diagnosed with general muscular dystrophy or limb-girdle MD, but I never quite fit the symptoms. I went to a new doctor when I moved to Boston in 2000 and he was like “I think you have something else we can do a simple blood test for” and he did the DNA test that showed I had SMA. I have 3 copies of SMN2 as well (and 0 SMN1 obviously). I’m kinda surprised you all have 3 or more copies too since it seems like you’ve had much more severe SMA than I’ve had and I always thought that was a good indicator of severity.
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Lupe, I’ve heard the quality of the copies makes a difference as well. I don’t think there’s a way to tell how the quality is though.
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I was originally diagnosed in (she whispers behind her hand) 1968, so it was done by biopsy. At that time (age 5), they said I had Werdnig-Hoffman (what they used to call Type 1 before SMA), but to explain why I wasn’t severe enough, they said it was “arrested.” It wasn’t until I was a Junior in high school, that they came up with SMA Type 2 b/c I had “the look.” I quit going to the clinic and any neurologists when I turned 18 and started college. Thank goodness for Facebook groups where I learned about Spinraza.
When Spinraza came out and I was considering it, I learned they would have to do genetic testing to “prove” what I’d been living with all my life. I decided I didn’t want to do that particular drug, so there wasn’t any need to get the test. But then came Zolgensma and finally Evrysdi! So, I gladly succumbed to the vampires. It was an easy blood test, and I finally had confirmation that it was indeed SMA Type 2 with 0 SMN1 and 3 SMN2 copies.
I guess I took too long to say you have to worry about the test anymore than you would a normal blood test.
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Thanks for the comments, y’all! The test was super easy – they sent me a saliva kit in the mail. I just got a voicemail from the genetic specialist, so hopefully I’ll find out soon!
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