A Day of Grace

Tomorrow would have been Grace's 1st Birthday. As you can imagine, this has been weighing heavily on Holly and I lately. We've been reflecting a lot about what she would look like now or what milestones she would have achieved. I know deep down inside that's not healthy, but you can't help but wonder.

I remember this day one year ago like it was yesterday. It started with an 11:00 am pre-natal appointment at Kaiser. We met with a new nurse practitioner that morning. She proceeded to examine Holly to see if she was dilated. Being two weeks before her due date I didn't think she would be so I was surprised when she said she was 1-2 cm dilated. I remember afterwards teasing Holly about the nurse's man-hands. She had the hands of mechanic not a nurse.

After the appointment we walked downstairs to the health center to buy our breast pump. We waited until the last minute since the 1-year warranty starts from the date of purchase. As we drove home Holly kept saying she was cramping up. We figured this was due to the invasive exam and it would stop after a while... but it didn't.

Later that afternoon I suggested Holly get into the pool. I thought the neutral buoyancy might help. As Holly floated in the pool I sat at the patio table reading the 10,001 baby names book. I hadn't cracked it open since we got it and figured now was a good time. We had already been leaning towards the name Grace but we hadn't decided on a middle name yet. As I read through the book I would toss out names to get Holly's opinion. When I got to Elizabeth we both really liked it and no other names after really mattered.

By 5:00 pm we were tracking the contractions that were coming more regularly. We called Kaiser and kept them abreast of the developments. Finally they gave us the go-ahead to come in. We were already prepared so it was easy to load up the car and head out.

When we got to the hospital they whisked us away into the exam room. The nurse checked Holly who was at around 5 cm at that time. The nurse smiled and said we're going to have a baby. So Holly was admitted and we were transferred to her delivery room. It was a very spacious room with all the modern instruments you'd expect to find.

Within a couple of hours Holly had the epidural and was no longer in pain. At that point it was a long waiting game with occasional checks on how dilated she was. By around 5:30 am Holly was dilated to 10 and it was game time.

After maybe a dozen or so good pushes Grace came into this world at 6:00 am. We were so overwhelmed at the time. My immediate concern was Grace's lack of crying. I knew this wasn't normal but I wasn't overly alarmed at the time. The nurses continued to fiddle with her trying to get her to cry. After about 30 minutes they started to bath her and then she started to cry a little. Obviously in hindsight this lack of crying was more serious then any of us knew.

All we did know was we loved this precious little baby so much. She was so pure and innocent. We were honored to be able to hold her and take care of her. It was such a joyous time that we wish would have lasted a lifetime. Unfortunately our journey took an unexpected turn in the weeks to come.

Our Rest Stop

As many of you now know, Holly and I have sold our house. It was a very difficult decision and comes with great sadness. We have so many fond memories of our house from all the remodeling we did to our wedding reception to the 4th of July parties with our neighbors, and of course all the memories with Grace.

The memories of bringing Grace home are so bright and happy. We were so proud of the nursery we created and were exciting to finally be able to use it. Those first few weeks when we thought everything was OK were great. But after her diagnosis our house became a hospital of sorts with regular visitors from hospice nurses and therapists to weekly deliveries of medical supplies. Then that dreadful rainy Saturday morning in October when she passed away while we all knelt around her crib and cried. The pain is still so deep and raw.

In the weeks and months that have passed we have maintained her room as it was on that day, sans the medical equipment and supplies. It has been a sanctuary to enter and connect with Grace. A place we could go pray and cry peacefully. To this day I always say good-morning to her as I open her blinds and good-night as I close them. I can't help but want to believe her spirit is still in her room and she can hear me and feel my presence. And for me that is probably going to be the hardest thing about moving. The thought her spirit could still be here and we're not.

I know Holly and I have come up with some ideas to bring Grace with us and keep her close to us. We have purchased a Hope chest to keep personal mementos in and we are going to put in a Butterfly Garden when we find another house. But we will never have her room again...

So over the next two weeks we're going to start packing up our house and moving things into storage. Unfortunately, we haven't been able to find another house yet to buy, so we're going to stay at a friends house in the meantime. I know going through her belonging and packing them up is going to be very emotional for us. Especially since next week would have been her 1st Birthday. We have already been feeling the effects of that pending date.

As much as it pains us to move I think in the long run it'll help with the healing. By not walking by her room everyday and having that constant reminder of our loss will help us heal. We will never forget Grace, but maybe living somewhere else will help ease the pain.

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.