Family Photos

Simple family tasks that are usually fun and rewarding seem to be a very daunting for us. I can't speak for other families who have lost a child, but for us, it has been a battle to get family photos done. We struggled for a long time because we neglected to get a family photo while Drew was alive. We kept putting it off thinking "we have plenty of time." We were also trying to be careful with money because I was not longer working. All the normal excuses in the book lead to a major regret.

More excuses came over the past year and a half, braces, money, time...excuse, excuse. Finally, after my braces were taken off and I found a fabulous deal on Groupon for a portrait package we decided it was time. We struggled on and off with how to represent our whole family in a photo. It felt so wrong to get pictures done without our handsome baby. We decided that having him in the photo by using one of our favorite pictures would satisfy our need to have him represented in our family enough to get them done.

We are a very finicky family...mostly just Robert. We spent an entire night out shopping for the "perfect" picture frame. Personally I didn't care what the frame looked like because the only thing I would look at was his face.

Here it is....we love it!

We were also very lucky to have a good friend who is also a member of our ward take our pictures! She did a fabulous job and was very patient with us.

Moral of the story...don't let silly things get in the way of making and capturing beautiful moments in your families life. Excuses are just excuses...you can always work around them.

After we got the pictures back, I pulled out the last family photo we had done....BIG DIFFERENCE!

We look like a completely different family...reality is...we are.

Last Tests

We got news this week that the second set of genetic tests were completed. This was the test that they did on the dried blood sample from Drew when he was born. They were searching for what genes he inherited from Robert and I.

It turns out that he inherited both the mutated gene that causes Cblm G and Cblm F disorders. This is something that has literally NEVER been discovered before. What caused his disorder was two mutations located on two separate genes that are involved in the same metabolic cycle. Our genetic counceler and the genetic testing researchers are currently rushing to get this news published in the medical community because it will drastically change how metabolic disorders are looked at and tested for.

The sad part about this testing is that we will never really know what would happen if we were to have another child with the same disorder combination as Drew. Because no one has ever seen this before, it is unclear if we began treatment early on, whether that would make a difference in the prognosis of their life. I was secretly hoping that they were going to discover that he had inherited two sets from either Rob or myself (the same way a child gets Down's Syndrome). That would mean our chances of having another child with Drew's disorder would be less than one percent.

Now that the genetic testing is over and we have the information we have been searching for I feel like I am back at square one with the grief process. It has been a very difficult couple of days. The most difficult part was telling Robert. I could tell he was instantly heart broken. The big question that now sits in our minds constantly is whether we will have any more children. Tough pill to swallow.

Memorial Tree Dedication

  Robert, Alexis and I attended a memorial dedication today at Golisano Children's Hospital where Drew was cared for while he was sick. We have always been incredibly grateful for the staff and doctors that took care of Drew, but today really showed us that each child that dies in their care is remembered and touched their lives. It was a beautiful ceremony and was very well organized. There was a large tent set up in the parking lot outside the hospital and each family was given a beautiful medallion to commemorate the event.

The memorial is called The Memorial Tree in remembrance of all the children that died since the children's hospital opened in 2009. The tree has been bare until they added leaves with each child's first name and the year they died to it today.

The leaves are fastened to the tree and will be left there to remember them.

As you can see, there are a lot of leaves already on this tree.







When we first arrived to the site, we went first to find Drew's leaf on the tree. I circled the tree twice but couldn't spot his name on a leaf. It was a sunny day which made it difficult to look up and find the names as the sun light reflected off each metal leaf. I had a moment of sheer panic because I worried that they had forgotten his name. But as I made another turn around the tree, I found his name high at the top of the tree.

There is his leaf. It is high on the tree, on a branch stretching toward heaven.
There was a beautiful ceremony conducted by the chaplain at the hospital. She is a wonderful woman who came to visit us many times while Drew was in the hospital. She brought of sweet messages of hope and love. She gave Alexis and Drew matching elephant stuffed animals that they could keep when they were apart. Alexis still has her elephant sitting on a shelf next to a picture of herself and Drew.



They lit three candles, each one symbolizing a step in the journey of grief. The first candle represented our memory of the children we had lost. The second candle represented our hope as we face the future and the third candle represented the peace we seek in our lives. At the conclusion of the ceremony they read each name that was represented on the memorial tree, while a woman played a harp. There was not a dry eye.

It was a really beautiful experience. It warms my soul to know that Drew will continue to be remembered through this memorial. I find myself drawn back to visit that tree and a place where we can go to remember him.

Research Article

We received news today that the organization that completed the genetic testing on our family wants to write a professional research article about our family...specifically Drew. They want to describe how our genetic testing was done and the implications to this new form of testing so others can benefit from it. We are thrilled. It was always a goal of Robert and mine to share as much as we could with others. In conjunction with our genetics team, they will explain Drew's clinical presentation as well as the process that took place to do the genetic testing. Because this organization is writing this article they have agreed to pay the cost for the rest of the genetic testing from here on out!!! Drew's clinical diagnosis and our families genetic implications have now become open research. 

In addition to not having to pay for the next series of genetic tests on Drew's dry blood spot, they have also said it shouldn't take as long because now that it is on their research docket they can proceed much quicker (compared to being a clinical patient).

Another incredible answers to our prayers. I have been so worried that something would happen to the sample from Drew that I have been praying constantly that it would be watched over and protected from human error. The organization is currently working to acquire the sample immediately instead of waiting 2 months. It is imperative to their research now to have this sample and I know they will take every measure to ensure that.

The test results are in....

I have been waiting for the day when I could post some news about the genetic tests that were started in March of this year. I feel the need to share all of these updates with you because it is through all of your generosity and support that we were even able to go through with this testing in the first place. While the company was incredibly accommodating by lowing the price of the testing several thousands of dollars and fighting our insurance for coverage, it was still incredibly expensive.

We met with the two doctors that oversaw the treatment of Drew while he was at Golisano's Hospital. Before I tell you what we were told, I want to put our this process into context so you understand the decisions we have had to make regarding these tests. First, we had to decide which form of testing to do. While this form of testing is brand new,  has never been done this way before, and costs overwhelmingly more than the traditional method, both Robert and I felt 100% sure that it was the path to take after we prayed and fasted about it. Second, we were told that we should expect nothing. They were so unsure of wether we would get any information that they told us there was a very good chance we will get a large summary of genetic mutations that mean absolutely nothing to the scientific community....not all mutations have been discovered. We have spent the last month milling over our decision and praying that we would get even a little bit of information to explain Drew's sickness and death....we got more than just a little.

Robert is a carried for the subtype CblF disorder. (Cobalamin disorders have 8 current subtypes based on the location of the mutation). This genetic mutation is a frame shift mutation located on the LMBRD1 Gene in Chromosome 6. I am a carrier for the subtype CblG disorder; a change form mutation. Instead of a Proline amino acid there is a Leucine amino acid. It is located on the MTR Gene on the 1st Chromosome. Both mutations are common for this rare disorder and are no doubt disease causing mutations. This is where it gets a little tricky....Normally, parents carry the same subtype for this disorder. We however, do not. I have no disease causing mutations that would cause CblF and Rob has no disease causing mutations that would result in CblG. 

The result of these tests, as conclusive as they were, now lead to a slew of new questions and theories. Here is the best part. Becuase they were able to determine with incredible accuracy that we are carriers for these types, they were able to secure a dry blood spot from the New York State New Born Screen lab that they preserved from when Drew was born. The same lab that performed this genetic analysis is currently calibrating a new test to use that dried blood sample from Drew and test which mutations he received from us! This is incredible news. There is a very high chance that we will be able to pinpoint exactly what happened to cause his disorder.

Because of the complexity of our situation (being carriers for two different subtypes) there are basically three theories they will be testing Drew's DNA for:

1. Drew received both mutated genes from Robert and I from the MTR gene and LMBRD1 Gene in what is called Digenic Inheritance. If this is the case, it will be the first reported case of a cobalamin disorder that occurred in a digenic inheritance pattern-a disease caused by co-inheritance of mutations at two distinct genetic loci or two different genes! This theory will prove true if they find Drew received both mutated copies.

2. During conception and the first division of cells, the two chromosomes from either Robert of I carrying the mutation did not split and resulted in having three of the same chromosome in the divided cell. In order to avoid a problem, that cell would have "kicked" out the third chromosome and left the two copies of mutated chromosome-eliminating the healthy chromosome. It is basically the same process that occurs for children with Down's Syndrome expect the third set is kept. This will prove true if Drew's sample indicates two sets of the same mutation. In that case, the chance of having another child with this disorder decreases to less than 1%. This is called uniparental disomy.

3. Drew received either the mutated gene from Robert and I, and an alteration occurred at the moment of conception, in the exact same gene as one of the other mutations. 

I know this is a lot of information. You can imagine how it must have felt hearing all of this from them today. In some ways it was miraculous because we could see the Lord's hand in our life and in the decisions we have made. At the same time, we have to wait longer. We are halfway to the answer we are seeking. We do feel incredibly grateful because in all honesty, neither of us thought we would get this far. We fell to the bottom of a dark pit in the last year wondering about what our future would hold. I think we are both hoping and praying that we get the genetic confirmation from the dried blood sample they were able to obtain from Drew. Of course it would be miraculous if this circumstance ended with us having less than 1% risk with another child.

To close, I want to bring you back to the decision we made to do these tests. If we would have chosen the traditional method of testing each subtype separately, they would have never detected the mutations. We would have gotten the answer "we are sorry, but we don't know what caused Drew's death." I am so incredibly thankful for the Lord's hand in this simple decision that could drastically change the outcome of our future, both individually, as a couple and a family. We love you all!!

A Year In Review

It amazes me when I sit down and actually think that it has been a year since Drew passed away. Robert and I have struggled through the month of August, reliving each moment with Drew throughout his sickness...culminating in his death. It has been a roller coaster ride as we retrace decisions, remember sweet moments and remembering horrifying moments. I can say one thing for sure. I am truly blessed for the support that has surrounded me throughout the past year. I am especially grateful for the group of righteous women who met every Tuesday afternoon to have lunch. It was such a healing experience for me to be surrounded by other women and mothers who experience trials of their own. We learned from each other, we laughed together and we cried together (although I am pretty sure I was the one doing most of the crying). I am grateful to my family for understanding when I don't pick up the phone to talk because it is just one of those days.

Today Robert and I spent the morning at the Palmyra Temple. It is the one place that I can truly say that I feel Drew's presence around me. From the moment he was born I could feel his beautiful and powerful spirit. We participated in temple ordinances from 8:30-12:30 and it was fantastic. We did a group of family names that I had submitted about three months ago. This evening we watched our home videos of Drew. Mostly of his birth but a few others that are cherished memories.

In one of the videos that was taken just a few days before he was admitted to the hospital for the first time, he was smiling and very "talkative". We froze a few of our favorite frames and I thought I would share them with you. Seeing pictures like these reminds me of all the beauty in Drew. Often times my memories are drawn to him on a ventilator with several IV's in his little body and dozens of monitors beeping in the background. I struggle to remember him as a vibrant, healthy little boy because for weeks, doctors showered us with negative news concerning our son. I remember thinking and I believe I even said it out loud a few times..."But don't you see him....he is beautiful, aware, smiling...how can all of that be wrong?" It was a frustrating realization.

Thank you all for the support you have shown us through this difficult time. We hope and pray that as our family continues on this journey we will continue to find peace where there is sadness and grief. Thank you for the text messages today, for the flowers, for the messages on face book and your prayers.

Drew's Birthday Remembrance

The month of May proved to be a difficult month for our family. It has been a month of remembrance, healing and a whole lot of grief. We were able to have a reverent Mother's Day going to church as a family. My grandparents came to visit for the weekend from Pennsylvania. Along with my mother, we all enjoyed a great breakfast (made by Robert and Alexis) and went to church. It was difficult to feel worthy of the title "Mother." I tried to focus on showing my love and respect to my grandmother and mother.

On May 18, 2011 we welcomed our beautiful baby boy into our family. On May 18, 2012 we spent the day remembering the beautiful memories we made a year ago. We planted a yellow lily in remembrance of him and ended the day by sending off Chinese Sky Lanterns. I thought I would share a few photos with all of you.