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.

Gracie's Angel Friends

Those mysterious pinwheels made a reappearance today when we went to visit two of Grace's angel friends, babies Lily and Elle. Two amazing little girls who were taken from this Earth far too soon, but they both made an astounding impact on countless numbers of people. I have been just awestruck looking at their pictures lately, the bright twinkle in their eyes and those sweetest smiles just warm my heart. They are pure and innocent, and possess the most happy and untainted spirits.

Brien and I had the pleasure of meeting these babies' wonderful and caring parents during our support group meetings last spring. We finally got a chance to visit both of their memorial sites today and were amazed at some similarities between their sites and Grace's. Baby Elle had a cute musical baby ball, it was one of the same toys that Grace had, only she never got opportunity to play with it. Baby Lily had a couple of pinwheels at her site which Brien and I immediately recognized from Grace's site. I wrote about these about a month ago, someone had left them at every baby's site in the cemetery where Grace was located. So maybe it was Lily's parents who left them...but we don't know for sure. Probably just coincidence, or maybe.....another sign. If not for Grace, we would have never met such wonderful people.

Perhaps, through these small coincidences, Grace was telling us that she is a dear friend to these sweet babies. In any case, we sure hope that babies Grace, Lily, and Elle are finding happiness together, "Forever Over the Rainbow!" God bless our little girls. May their spirits and kind hearts shine on through eternity.

Planning the Perfect Butterfly Garden

After a week of rain we finally had a break on Sunday to go visit Grace. Holly had picked up some fresh roses and I had my gardening bag in tow. Like many times we visit her, Holly will take the vase to a nearby table and start trimming the flowers and putting them in a vase. Meanwhile I use a little brush and water to clean all the nooks-and-crannies on her plaque. We take great pride in making sure her site is always clean and full of flowers.

When we were done we stood there admiring our work and thinking about our baby. I couldn't help but think about how beautiful the floral design is on her monument and all the flowers surrounding it. Then it dawned on me, we should start a garden in Grace's memory. But not just any garden, a butterfly garden. Holly loved the idea!

The notion of a living garden with butterflies that are so symbolic to us made perfect sense. Something we could create with a variety of flowers and whimsical garden fixtures seemed like a fitting tribute to our baby girl. Being part of something that would grow and evolve in her memory was just what we were looking for. It was also perfect timing since we had just been discussing where to put a Butterfly Bush our friends Jason and Alex had given us.

We had already planned to go to a nursery after our visit, so it was a good time to get started. We had been talking about getting a water feature for months. And we figured this would be a good start to our garden. After spending an hour at the nursery looking at different fountains and features we decided on this one. We really like the design and easy setup.

Since then I've been reading a lot about butterfly gardens and what it entails. There are dozens of local trees, shrubs, vines, perennials and annuals that attract butterflies. These types of plants are broken into two groups; nectar plants for butterflies to feed on and host plants for emerging caterpillars. And of course the types of butterflies varies by region.

So over the course of the next couple of months we're going to work on the plans for our garden. We don't want to put it in at our current house since we plan on moving soon. But as soon as we move we will probably start on it. In the meantime I will continue to work on my list of plants and design. We really hope this will be a labor of love and a place of happiness in memory of Grace.