Still Searching for Answers

Six months have now passed since we lost our precious baby girl. Eerily enough, around this six month date, I received an email from Grace's geneticist, Dr. Lipson with Kaiser. He had recently attended a lecture about infant epilepsy, specifically the myoclonic type that Grace had. He talked with the presenter about Grace and the presenter mentioned one of the tests that had not been completed was testing for a mutation of the STXBP1 gene. Mutations of this gene are often associated with Ohtahara Syndrome (also known as EIEE). Brien and I remembered that Grace's neurologist had said she presented with EMEE not EIEE, however upon further investigation we are learning that the differences between the two disorders can be very blurry and there is much overlap between the two. Thus, we cannot say for certain which one she had for sure.

Then, we had to ask ourselves, why is all of this of any importance? According to Dr. Lipson, if her epilepsy was caused by a mutation in the STXBP1 gene, the recurrence risk is essentially zero. This genetic type of myoclonic epilepsy is always due to a new occurrence of a mutation in the affected infant. So, our risk of having another child with EIEE would be essentially zero, which is great news. Now the bad news.....the lab is not sure there is enough blood sample left to run the test! So, we continue to play the waiting game and keep praying that by some miracle they will be able to run this "last hope" test, so to speak.

As frustrating as all of this may seem, there have been a lot of positive things happen due to this latest information. Even after several months of what we thought was essentially closing her case, we are so grateful that Dr. Lipson still thinks of Grace and has gone the extra mile in continuing this investigation with us. We also learned that although she may not have had Ohtahara Syndrome, there is an online support community out there for children with this disorder, and it appears as if many, many of them presented with very similar problems as Grace. It has been wonderful to hear from other families who have been through such similar struggles as us and to see many pictures of these infants so similar to Grace. One thing we have found striking is that many of them have pictures with that same euphoric type smile that Grace had. That smile is what gives us hope for the future, while still searching for answers of the past.