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.

Sweet Moments Caught By A Six Year Old

Alexis has her own kid proof digital camera that she got as a present for her birthday years ago. She will randomly pull it out to snap pictures of her favorite toys or when we are going somewhere fun. We were downloading the pictures off her camera tonight and I had a wonderful surprise. While I usually get irritated when she gets six inches from my face to take a picture, I was incredibly grateful for these sweet moments caught by a six year old.

 This one was taken when I was well into my pregnancy with Drew. I don't have many pictures of me pregnant. In fact this is one of about 5.

Here is a close up she took of my belly. I loved being pregnant with Drew.

There were a few more pictures that are a little too precious to me to share. One of them is of me and Drew snuggling in bed. I am sure Alexis snuck in one morning to take it...but I was all smiles with my little boy snuggled close to me!

Sweet memories caught by my wonderful six year old. I hope one day I can truly express my gratitude for her persistence to capture her pregnant mom and little brother on film. Love you!

Sacred Grove

On our way to our ward temple trip a few weeks ago we had a few moments to stop at the Sacred Grove before our session began. We weren't entirely sure if was going to be such a good idea because that is and still remains a precious memory to us. We had many wonderful memories as a family of four and a walk through the Sacred Grove is among one of my favorite. In fact, the Sacred Grove is the location for many treasured memories....

The first was when Robert purposed to me.  We were headed to the Palmyra, NY pageant and Rob wanted to go early so we could walk around Sacred Grove together. We were meeting some friends who were going to save us a good seat so we didn't feel like we had to rush. It was a beautiful day...except it rained most the time we were there. Thankfully, the trees are so dense that it doesn't really bother you when you are there. Robert purposed to me in front of a "witness tree." There are several witness trees in the Sacred Grove that were said to have been there when Joseph Smith had his first vision about the Book of Mormon. We walked for what seemed like forever and when we finally found one...there was a group of girls sitting on the bench next to it. To make a super sweet and long story a little shorter, we waited till they left and when we walked over he knelt down in the mud and asked me to marry him.  (I said "yes")

We had visited the Sacred Grove many times while we have lived in Upstate New York. Each time, Alexis learned a little more about why it was so special. We visited with Robert's family from Utah and went with our friends on several occasions. Not one memory of our visit is short of a wonderful experience. I love that when you walk through the grove you can see the temple through the trees.

The Sacred Grove is also the place that we were as a family for the last time before Drew had his first seizure and ultimately left our family. We were headed home and despite Robert's usual sense of direction, he took us a little off course and consequently we drove right though Palmyra. We loaded up the stroller and had a wonderful walk through the Sacred Grove that day as a family. We even went back to the witness tree. It was the first time we had shown Alexis where Robert had purposed.

It was a wonderful moment as a family that we were able to share together before our lives were turned upside down. 

I guess the witness tree has witnessed many miraculous things...

FINALLY!!!

I titled this post for two reasons...

First, I FINALLY have found the motivation to starting writing on my blog again. I suppose I had to take a small break from all social media including this blog because I lacked motivation to read about other peoples lives (I know, selfish right?!?) But I am also having a hard time formulating a post that didn't entail an extreme about of negativity and sadness. The past few weeks have been a serious struggle for me. I have been having a hard time in social situations because I often find myself unable to cope with any measure of pressure, anxiety, stress...even joy. I find peace and joy in being home, reading and going about my rather boring life.

Second, We FINALLY got an appointment with our team of geneticists to start the genetic testing! It has been very frustrating waiting for our insurance to give any indication of whether or not they would help us pay for the genetic tests we need to get to better understand what took Drew away from us. To no one in particular's fault it is just an incredibly slow process. I was also beginning to feel like I was being cut off from blessings of any kind or any type of communication with God. I suppose I thought that maybe he wants to throw me out and see how I do after all the guidance he has provided for me and Robert over the last few weeks.

Here is what happened to get to where I am today!

I met with one the members of our Stake Presidency several weeks ago. He was just checking on me to make sure I was doing OK. I told him what I was struggling with, and he shared an amazing piece of insight with me that has been incredibly true in my life, especially right now. He shared with me this scripture from Joseph Smith History:

After I had retired to the place where I had previously designed to go, having looked around me, and finding myself alone, I kneeled down and began to offer up the desires of my heart to God. I had scarcely done so, when immediately I was seized upon by some power which entirely overcame me, and had such an astonishing influence over me as to bind my tongue so that I could not speak. Thick darkness gathered around me, and it seemed to me for a time s if I were doomed to sudden destruction.

But, exerting all my powers to call upon God to deliver me out of the power of this enemy which had seized upon me, and at that very moment when I was ready to sink into despair and abandon myself to destruction--not to an imaginary ruin, but to the power of some actual being from the unseen world, who had such marvelous power as I had never before felt in any being--just at that moment of great alarm, I saw a pillar of light exactly over my head, above the brightness of the sun... (v15-16)

I could finally understand how God gives us blessings...right at the moment when we feel like we will absolutely self destruct and can't handle life anymore. But here's the trick. We have to go to Him!! This is such a powerful scripture to me. I can think of this example in my life dozens of times in just the last few months since Drew got sick and passed away.

I have also been reading a fabulous book called "Divine Signatures" by Gerald N. Lund. He is a descriptive and inspirational author. This book is focused around our communication with God and how He makes it apparent that blessings are given in a way that we can know with a certainty that they came from Him. Sometimes when we receive a blessing, God wants us to know that it comes specifically for you because of the timing of the blessing. It comes at a time when you know there is no way it could have happened that way out of coincidence.

I have been slowly digesting this book and pondering what President Richards taught me in that meeting when an absolutely amazing experience happened. I hope you aren't disappointed because I didn't see angles. No one descended from Heaven. But this experience has extreme power to me.
I was sitting at my desk at work when I received a call from one of the genetic counselors. I feel like I have talked to him so much in the last few weeks that I could recognize his voice out of a crowd! He told me that Ambry genetics got back to him about our insurance and he had good news. According to our insurance policy they decided that genetic tests are covered at 80%..........I was blown away. I was standing in an empty classroom and I started crying. What a huge blessing. Although we have the money set aside in a trust fund for the test (giving our insurance company wouldn't pay for any of it), we now have a window to help others! We went from having a test cost $14,000 to just over $2500!
Here's the most incredible part. I was having an excruciating day. I felt like I could burst into flames because I had so many emotions running through me. When the genetic counselor called, it was exactly six months since Drew died. As I was pondering this significance after I got home, I heard a small voice enter my heart... "This is from Me!!" I knew exactly what that meant!

Our Goal

I am so excited to announce that the Memorial Trust set to help our family get genetic testing has reached it's first huge goal. I say first because the fight will never really be over...whether for our family or another one. We now have the needed $14,000 to get the genetic test through Ambry Genetics, with the hope that they will be able to pinpoint a genetic mutation that was likely to cause Drew's disorder. From there the road could be long if it is a mutation that has never been seen in a human before.

I owe this big feat to my husbands family. They embarked on the task to help us raise the final $5000...through a fundraiser in Utah! They did more than raise that...they raised a total of $6000! It truly brings tears to my eyes to think that individuals who live on the other side of this country would be that generous to our family.

Drew was the most beautiful and special little boy. When I held him, I felt a deep sense of peace and joy from being his mother. I have to admit that I frequently hogged him because it was so hard to put him down. The one person I shared him with openly was my husband, Robert. He is still so proud to be his father.

Thank you everyone....Aunts, Uncles, Nieces, Nephews....for making the sacrifice of time to raise money for our family. I know that Drew is proud of the family he was born into. We all are making him proud.

Baby Tress and Garden Stones

This year we tried to establish a small tradition that we know we can follow through with and do ever year. We decided to have a small evergreen tree in our home for Drew. I know this doesn't seem like much but the baby tree we bought was real and planted. We bought a real tree because there is an old folk tale from a group of early settlers to America. They were amazed at the Evergreen tree because during the harshest of winters, it remained green and beautiful! They called them immortal trees. Due to their nature they would gather branches of these trees and put them in their home during the winter to remember the loved ones they lost and to decorate during the most difficult months. Our baby evergreen tree is a tribute to our baby Drew and his immortal soul! His body may not have stayed with us very long but his spirit will be apart of our family forever!

We plan to eventually plant this tree when the ground defrosts and we hope by then we can put it in the yard of our own home!

For Christmas one of my very best friends gave my daughter and I a fantastic present. She is an OT at a preschool and by nature she finds awesome project kits! She gave us a kit to create a garden stone. It had beautiful stained glass and stamps to write a message in the stone. I gave Alexis the option to create this stone however she wanted. She was very excited when she woke up over break and I asked her if she would like to try to make the stone. She replied "yes!! And I would really like to make it a Drew stone that we can put in a garden someday with our baby Drew tree!"

She loves and misses her little brother so much. At these moments it reminds me that she is mourning too. It makes sense but I forget. She is a smart little girl! I am so grateful for her.