Saturday, April 30, 2011

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.

Sunday, April 17, 2011

Remembrance Gathering

Last week Holly and I attended a Remembrance Gathering put on by Kaiser Permanente. It’s something they do for families who have lost a child. It gives families an opportunity to see the healthcare providers who cared for their children again. For many families the bonds they made with their child’s doctors and nurses were very strong. This is the 13th year they’ve been doing it.

When we were invited a few weeks ago they asked us to send them some pictures of Grace, which I did. The pictures were for a slide show during the event and for them to create a Remembrance page for Grace. At first I wasn’t sure if I wanted to participate. But after talking to Holly I decided to do it. So I sent six or so pictures of her to the coordinator.

We arrived at the event about 15-minutes early. After following a few signs to the conference room we walked down this long hallway where stood a woman. As we approached she smiled, extended her hand and said “Hello, I’m Grace and welcome to the Remembrance Gatherings.” Holly and I no longer need to look at each other when things like this happen, we already know what the other person is thinking. She ushered us into the conference room and showed us around.

After excusing herself, Holly and I circled a table full of scrapbook pages of all the children that were going to be remembered that night. Obviously we were touched to see Grace’s page their as well as Sara, the daughter of Carol who was in our support group. Its funny how after spending 8-weeks together we’ve come to know each other’s children. At the end of the table were scrapbooks of all the previous children who had been remembered before. I took my time and went through each one, seeing children of all ages. Some looked like normal kids while others were ravished by disease or cancer.

A short while later Carol and her family arrived. It was comforting to see a warm and familiar face. It was also the first time we got to meet her husband and other daughter whom we had heard so much about in group.

The guest speaker that night was Beverley, a Hospice nurse at UC Davis and who was also Grace’s nurse. The first time we met her was the day we were taking Grace home. She came to Kaiser to meet us and do a little paperwork. The next day she arrived at our house to see Grace. She has such a sweet comforting aura about her. I told Holly once she reminded me of a missionary, a genuinely good person who cared about people.

It was the first time we had seen her since Grace’s funeral. So it was nice to see her and catch up. She talked fondly of Grace and how she touched her, which made us feel good. Beverley was also Sara’s hospice nurse.

Beverly’s talk that night was very touching. She talked about losing her father in her arms when she was 16. And that is why she got into nursing. Afterwards they did the slideshow. As people sat quietly they began seeing pictures of their children appear on the screen. I was so touched at the loss of so many innocent lives. It’s really a weird experience to see so many pictures of children playing and being happy knowing they are no longer with us. It’s such a great injustice to see children taken from us so early in life.

As the night came to a close they invited us up one at a time to get a rose in remembrance of our lost child. As Holly returned to her seat with the rose I couldn’t help but look at the clock and wonder if we could make it to the cemetery before dusk, when they close. That’s when Holly said, “do you think we can go to the cemetery?” We gathered our belongings, said our goodbyes and hurried out to the car. I think we hit every green light on the way and made it just in time. It was the first time we had ever been there in the evening. It was very quite and peaceful. I refilled her vase with fresh water and we put the rose in. It was nice to be able to do that after such a wonderful night.

I’m grateful Kaiser put on the Remembrance Gathering. It made us feel special and not forgotten, which is so important to us. They took wonderful care of Grace while she was with us and extended that care to us afterwards.