Sisterly love

Back in college, I met Amy, who became my heart sister in the Zeta Tau Alpha Fraternity. Like many of us, we lost touch after graduation, she went on to law school in Chicago and I ended up in grad school in Reno. Luckily, through Facebook, Amy and I were able to connect again a few years ago. She was living in L.A. and working her dream job as a lawyer. I became a speech pathologist and was running a business in Sacramento. Our paths crossed for a brief visit in the Summer 2008.

Then, in 2010 I was so happy to learn that Amy was engaged and later, even more excited to learn that we were both due to have babies that year! We exchanged gifts and chatted about our hopes and dreams for our little ones. She even sent me my first baby picture frame, for our ultrasound of our little growing girl. When Grace was born in July, I shared my labor story with Amy and told her not to fear the epidural!

Amy's precious boy, Jake Ryan was born just two and a half months after Grace. A short month later, we lost our precious Grace and were completely devastated. Many of the weeks after that are distant blurry memories for me as I think the trauma was just too much to bear. In early Dec 2010, even though little Jake was not even two months old, Amy flew out to visit us for a weekend. I can't imagine how difficult it was for her to part with him for those few days, but my sister knew that I needed her. I didn't have to ask, she just knew, and she was by my side when I needed her most. Amy knew in her heart what I needed, and I guess that is the true meaning of a heart sister.

Amy and her fiancé, Mike, postponed their wedding plans to focus on baby Jake for a while. I think everyone who attended their wedding this past weekend would agree that it was worth the wait! It was a beautifully planned wedding with great attention to details that made sure all guests had a great and memorable time. For Brien and I, the best part was seeing Grace's name in their wedding program on a memorial page. Amy wrote some very touching thoughts about our dear girl and how Grace was Jake's angel baby friend.

I don't know why Grace's life had to end shortly after Jake's life began. It doesn't seem right or make any sense at all. I thought that Amy and I would be sharing baby firsts and toddler stories together, but we're not. It helps though to see Jake and how well he is doing, he was a big hit at the wedding and is really developing a unique little personality. Amy told me once a long time ago, when Jake was an infant that he often laughed and smiled in his sleep. She thought he was dreaming of butterflies or playing with Gracie. Today, Amy tells me that she sees some of Gracie's spirit in Jake and believes that they started out as angels together.

Even though Amy and I lost touch for some time, I have no doubt that we will continue to be connected now and in the future. Sharing her special time has helped give me hope for the future, which for Brien and I is not always easy. I am so blessed that through Amy, I have discovered the true meaning of a heart sister!

Blank Pages

Last July, for Grace’s first birthday, our friend Renee gave us a beautiful scrapbook filled with wonderful pictures and memories of Grace. She put so much thought, time, and effort into it and we couldn’t have asked for a more beautiful tribute to our precious angel. Renee left some of the pages blank so that we would be able to add our own memories as well. It’s taken some time, but finally, last weekend Brien and I trucked down to Hobby Lobby so I could find some materials to finish the blank pages.

I’ve never attempted any type of scrapbooking activity before so the whole idea was quite overwhelming! Hobby Lobby had probably about five isles dedicated to scrapbooking supplies so it was tough to know where to begin. Luckily, I took some pictures of the blank pages before we left to try and match up some of the colors of the pages that needed finishing. Even more overwhelming were the emotions that overcame us while looking at all of the precious baby themed scrapbooking items.

Looking through all the stickers, I found some cute yellow ducks and bath time bubbles. I turned to Brien and asked if he would like to see a bath time page in her book. He didn’t say anything but I saw the tears instantly well up in his eyes. Bath time was his favorite time with Grace and she loved to have him hold her while floating freely in the water. I immediately felt bad for bringing up the subject because I didn’t want to upset him. Later, I realized that what I felt during that moment must be what other people feel when they ask about Grace or mention something about her that may make us tear up. What people don’t know is that we really don’t mind becoming tearful and we’d rather have this happen then for people not to mention her at all. Not talking about her would be like leaving those pages blank rather than taking time to fill them with the wonderful memories that we will cherish for a lifetime.

The Road to Resolution

On Monday, I received an email from a researcher with The Manton Center for Orphan Disease Research informing me Grace qualified as a study participant. We have been talking with them for a couple months now. The only reason Grace wasn't immediately enrolled in the study was because they required a direct blood draw. However, after some internal meetings they changed the eligibility criteria to accept banked DNA which cleared the way for Grace to be enrolled.

This isn't the first research study we've participated in, but it is the most comprehensive and advanced study we've been involved with. Let me start with a little background about The Manton Center for Orphan Disease Research. An "orphan disease" is defined as any disease, syndrome, or disorder that affects fewer then 1 out of 200,000 people, mostly children under the age of 2. Statistically speaking, less than two-dozen newborns a year in the United States have an orphan disease.

In 2008, Children's Hospital Boston received a $25 million grant from the Manton Foundation to establish the world's first and only center for research on orphan diseases. Children's Hospital Boston in conjunction with Harvard Medical School is home to the world's largest pediatric research facility. With 1,100 researchers and support staff, The Manton Center is the nexus of arguably the world's richest concentration of research talent.

The study will start with a Whole-exome Sequencing of Grace's, Holly's and my DNA and possibly Gabe and Brendle's. It will be done using the most cutting edge technology today. Simply put, there is nothing in 2012 more advanced then what we're doing. It will analyze every single gene 10 to 75 times each. The testing will take 3-months to complete. However, the results could take years to completely analyze. If a mutation or error is found that gene will go through additional testing to confirm the findings. The testing will also look at the genes associated with Sulfite Oxidase Deficiency which I talked about last month.

Holly and I have been very protective of Grace's remaining DNA samples. We had very specific requirements before we'd use any more DNA for testing. Not only does the Manton study meet those requirements, it exceeds them.

They will also be doing some comparative testing with another family. In December, Holly wrote a blog title the 12 Days of Christmas Continued.... in which she talked about Sadie and Art. Sadie emailed me back in September after finding Grace's blog doing research on EME. They had a daughter, Eva, who was born in August 2010 and passed away in October 2010. She too was diagnosed with EME. Due to the extremely rare nature of EME/EMEE we were probably the only two families in the country caring for our daughters' with the same disorder at the same time. Being in Massachusetts they were fortunate enough to have Eva cared for at Children's Hospital Boston. The Manton Center has DNA and tissue samples of Eva that they want to compare to Grace. We feel so fortunate to have met Sadie and nothing would bring us greater joy to have our babies find the answers together. It would be the greatest gift they could give us.

We're very confident we're taking the right road. Even if no immediate findings are discovered, our participation will be in the hands of the world's finest researchers for years to come.