No mutation found

A couple months ago Holly wrote a blog entry about a genetics test we were trying to do. The test looks at the STXBP1 gene, which is associated with Ohtahara Syndrome. If a mutation were found it would have meant Grace had Ohtahara Syndrome. However, only about 5% of children with Ohtahara Syndrome have a mutation on the STXBP1 gene. So it doesn’t necessarily mean Grace didn’t have OS either.

As it is, her seizure type (Myoclonic) alone is not what is typically seen in infants with Ohtahara Syndrome. So the test results could have been a definitive answer and not a diagnosis based on signs and symptoms, which didn’t fit her completely.

Anyway, it took us a couple months to locate enough blood from previous labs to do the test. About three weeks ago we found a sufficient amount of blood at Baylor University to perform the test. We were expecting the test to take 4-6 weeks to complete. However, on Tuesday we were told the test results were in and no mutation was found. Which may sound like a desired result, but it’s actually not what we were hoping for.

By not finding a mutation on the STXBP1 gene means the root of Grace’s EMEE is still unknown. If a mutation were found on the STXBP1 gene the reoccurrence rate would have been virtually zero. This is probably most relevant in our decision to have another child or not. Without an identifiable cause it means there is still a 1:4 chance of having another child with the same disorder.

As you can imagine this really bummed Holly and I out. I likened it to being hit in the stomach and having the wind knocked out of you. It’s just so deflating to be hoping for answers to only find disappointment.

So at this point there is no additional tests to run. All we can do is try and preserve whatever blood is remaining for a future genetics sequencing tests. Our geneticist is contacting all the labs to find out what exactly is remaining.

Once we know what blood and DNA samples are remaining we will be sending them to the Oregon Health and Sciences University for long-term storage. Since the storage of such samples isn’t covered by insurance we’ll be paying for this out of pocket. But it will provide piece of mind knowing all of her remaining samples are stored together in a facility designed for long-term storage. So be it in a few years or a few decades, we will have samples saved for future tests that could give us the answers we’re looking for.