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.

A New Lead and New Hope for 2012

As 2011 comes to an end, we have new hope for 2012. A few weeks ago Holly and I were talking about our future family plans. With so much uncertainty we have yet to make any definitive decisions as far as having another child. I asked Holly to take the research reins and continue where I left off. I felt as though I had reached my breaking point and couldn't mustard up the energy to continue the research. The mental and emotional fatigue the research has taken on me was too much to continue. Plus I thought a new set of eyes and renewed energy could help propel us into a new direction. I don't think people realize how overwhelming and difficult it is to research diseases that are so rare. And sadly, it's really up to Holly and I to continue the fight.

Holly went back and revisited emails, lab results and medical records. She started to identify a rare cause to EMEE that we were unable to pursue. It's called Sulfite Oxidase Deficiency. I can't even thoroughly explain what it is as we barely understand it ourselves. But essentially it is a metabolic disorder that has very similar symptoms to what Grace had. There were some abnormalities to Grace's urine tests early on that in hindsight could be bringing us closer to this diagnosis. It is a condition brought on by a gene mutation in which Holly and I could both be carriers. Unfortunately, we were in the process of getting enough urine from Grace for the test when she passed away. So we were never able to test for it.

Holly has been in touch with Grace's geneticist, Dr. Lipson, who is seeing if we can test for it via DNA, but best of all, using only our DNA. Meaning Grace's DNA samples that we recently stored would not be needed. We've really been wanting to find more testing that Holly and I could do and not use Grace's precious samples and this could be it. Dr. Lipson has been in contact with Duke University, where they test for Sulfite Oxidase Deficiency to see if testing can be done with our DNA samples. If so, this could lead to a definitive cause of Grace's disorder and subsequent death. It would also tell us the likelihood of having another child with the same disorder.

I am incredibly grateful for Holly taking over where I left off. When I felt I had reached my breaking point it's nice to know my partner is there to take over. The next few weeks could be very telling for us and give us the answers we need.