Cornelia de Lange Syndrome

The first time we met with the geneticist, when Ellie was 2 months old, he spent about half an hour assessing Ellie and asking us questions about her and our family histories. At the end of our meeting he pulled out a big thick book that appeared to be some type of genetic disorders dictionary. He flipped to a page and read us a paragraph that described our unique little baby to a T. He told us he thought she had Cornelia de Lange Syndrome, also known as CdLS. He ordered a broad spectrum genetic test called a SNP microarray as well as specific testing for CdLS to be sent off. There are three specific gene mutations that have been identified as causing CdLS, but only 60% of individuals with CdLS test positive for them. Others who display the clinical presentation and features of CdLS, but do not have any of the known gene mutations, can be given a clinical diagnosis of CdLS. The geneticist told us it would take 4-6 weeks to get the results back, but we immediately began researching everything we could about CdLS. The first thing we came across was the website for the CdLS foundation which is an incredible resource for families and providers and has pretty much all the information that is available on CdLS in one place. (Sidenote: Scott and I dream of starting a foundation and website for trisomy 4p one day). We found out that CdLS is very rare, only occurring 1 in 10,000 live births. To give you something to compare that to, the rate for Down Syndrome is somewhere around 1 in 500 live births. As we read about the classic features and medical problems associated with CdLS including short stature and below average in weight (so small in fact they have their own growth curve to measure growth on), long eyelashes, upturned nose, thin down turned lips, low-set ears, high-arched palates, incurved fingers (clinodactyl), proximally placed thumbs, upper limb abnormalities including missing fingers, faulty/nonexistent tear ducts, and severe reflux - to name a few characteristic that Ellie displayed - we felt like Ellie definitely fit the mold for a mild case (you can read more about the characteristics of CdLS here). So you can imagine our surprise when a few weeks later the geneticist told us the microarray results had come back showing a chromosome abnormality and we received her diagnosis of trisomy 4p accompanied by the only two articles available on it. All of the sudden 1 in 10,000 births didn't feel so rare and we would have given anything to have an organized foundation with a team of experts doing research and finding out best practices for our kiddos. We realized there was a lot of overlap between CdLS and trisomy 4p, but then again there is overlap between a lot of genetic disorders. We embraced and moved forward with Ellie's trisomy 4p diagnosis and didn't give CdLS much more thought until our follow up appointment with the geneticist six months later. The doctor walked into the appointment and asked me what we had talked about the last time we met. I was confused what he what he was asking and replied, "Ummmm, that my daughter has trisomy 4p?" He asked if anyone had talked to us about the CdLS test results. I told him the results hadn't come back yet when we had last talked, but since we found a definitive answer in the microarray no one really bothered to check the results of the other tests. He said he hadn't looked at them either until he was reviewing her chart prior to this appointment and saw that her test had shown a mutation in the NIPBL gene which is one of the genes reported to be causative for mild Cornelia de Lange Syndrome. Ellie was given kind of a secondary diagnosis of CdLS. By this point in our journey, Ellie getting a new diagnosis meant very little to me. It didn't give us any more answers than we already had (in fact it just created more questionsf), it didn't change any of the problems we were currently facing, but it did give us a larger community of support. I was excited to have access to all of the resources for CdLS, but I hesitated to fully jump in because I still wasn't really sure where Ellie fit into this diagnosis since Trisomy 4p was still her primary diagnosis.

Back when I was originally researching CdLS I came across a blog (Life on M Avenue) of an incredible mom, Maria, who shares her journey through CdLS with her completely lovable daughter, Ella. One of the first posts I read was her post To the Mom Just Getting a Diagnosis. I can't even put into words what a turning point this was for me. For the very first time in more than two months since Ellie had been born I realized I wasn't all alone. There was someone out there who understood the challenges I was facing and maybe, just maybe, I wasn't the world's worst mother for feeling the way I did. I honestly believe that it was no coincidence that this post was written just days before Ellie was born, but that it was an inspired post that was written just for me. Seriously. I love reading Maria's blog. She is so honest and real about the struggles they face, but always leaves you feeling optimistic and hopeful. You can imagine my excitement when I realized that little Ella and her family live in Nebraska, just two hours away from Omaha, where we would soon be moving. I contacted Maria and she told me about a CdLS family gathering that would be taking place in Lincoln during the summer. This casual little gathering of a few families was nothing compared to the huge national conference that is put on by the CdLS foundation biannually where hundreds of families come together for an organized conference weekend where they can receive free head-to-toe consultations with experts in a range of medical and educational fields; attend workshops on legal concerns, educational issues, and medical/behaviors challenges; and have opportunities to meet other families facing similar challenges. Scott and I were already planning and saving so we could attend the 2016 national conference in Florida. But this little eastern Nebraska get together was more than we could ever dream of in our 4p group where there are only a couple of us that have ever had the chance to meet another 4p family in person. So you can imagine my delight at being able to drive less than an hour away and meet other parents who I could talk to about the local doctors and resources that I was still navigating and other kids that shared so many of the unique challenges Ellie faced.

14 month old Ellie and 3.5 year old Ella

Meeting Ella and her family was definitely the highlight of the gathering. I felt such a bond with them even though I had never actually met them before. Ella was even more adorable and captivating in real life than she is on her mom's blog. I will never forget the way she came running up to us with her squeaker shoes on and did the sign for baby when she met Ellie. Watching Ella was one of the moments I remember being so excited for Ellie's future. I want to thank Maria for the very sweet post she wrote in honor of Ellie on her blog. You can read it here.

I have gotten a little ahead of myself, though, because the gathering was not actually the first time we met a CdLS family. Back in March my mom's neighbor and a close family friend mentioned that her niece, Jennifer, had just had a baby that was having a lot of the same problems Ellie had experienced when she was born. She even felt like little Elisabeth looked a little like Ellie. A few weeks later she told us that they had just been told that Elisabeth had Cornelia de Lange Syndrome. I couldn't believe that of the limited number of people who had CdLS we had a personal connection to one of them! A few weeks later I had the privilege of meeting Jennifer where she met Ellie and I got to hear all about her sweet little Elisabeth, who was still in the hospital.

Jennifer and I have stayed in close contact over the last six months. I have watched in complete awe as Jennifer has made every sacrifice necessary to care for Elisabeth. Last week Elisabeth had the exact same procedure as Ellie to place a GJ tube through a previous G-tube site. The procedure went off without a hitch and Elisabeth was thrilled to have a face free of tubes and tape.

Only 24 hours after this picture was taken sweet Elisabeth experienced a perforated bowel, septic shock, cardiac arrest, resuscitation, and emergency surgery. She is currently in the ICU fighting for her life. Once again, I am reminded that there is no such thing as a simple procedure in these complex kids. They are just so prone to complications. Sometimes it feels like there are no good options and that no matter how hard you try to make the best choice, something is bound to go wrong and then you have to live with all the regret and wondering what would have happened if you had made a different choice.
This whole situation has hit way too close to home for me. I have spent the last three days reliving Ellie's final moments and death over and over in my mind. I cannot bare the thought of someone else experiencing the same loss we have. Please pray for Elisabeth. She is slowly improving, but still has a long way to go. I know that she can do this because she is a fighter and she has her CdLS sister as a guardian angel watching over her.

Toddler Talk

The last week or two I have become painfully aware that Miles is now my baby and that every stage he passes through will be my last time to experience it as a mother. Kind of cool in regards to things like potty training and car seats, but super depressing in regards to everything else.  The days that I can squeeze Miles into the classification of a toddler are numbered and in no way is this more apparent than with his speech. Listening to this kid learn to talk and expand his vocabulary is the best part of my day. He uses so much expression and enthusiasm while communicating that it is impossible not to fall in love with him. I want to write down some of my favorite things about Miles' toddler talk before it is all a distant memory.

He says "I are ..." for everything and I'll admit I rarely correct him because I never want him to stop doing it.

For months he used who, what, where, when, and why interchangeably.  I think he has finally has them straightened out now.

He is definitely the third child and catches me off guard when he repeats things he hears his brother and sister say. For example:

• He asked for some chips and when I only placed two in front of him he covered his face and said, "You've got to be kidding me!"
• I was struggling to get his shoes on and he muttered under his breath, "This is so annoying!"
• When he gets in a particularly grumpy mood he will start yelling, "Stop touching me!" or "Don't look at me!" even when no one is around him.

hangerber = hamburger

melon melon = watermelon
Mc n' donalds = McDonalds
lasterday = yesterday
hopper copter = helicopter
moonkey = monkey and a monkey says ookie aakie ookie aakie

He has mastered the broken record approach to get what he wants. The child literally will not take no for an answer. He will ask for something and if he doesn't get the answer he wants he will ask again, and again, "cam I?"...no..."ahhh, cam I?"....no..."ahhh, cam I?"... you see where this is going. He will not stop until a) he gets what he wants b) he is distracted by something he wants more instead. It's both hilarious and exhausting.

Miles is very complimentary of others. It is not uncommon for him to praise me with comments like, "Mom, you are a good wiper" as I am wiping the counter after lunch. Sometimes they may not sound like compliments like when he says, "You sure are heavy to being carrying a big boy!" as I carry him up the stairs. My favorite was when Ellie was in the hospital and Miles reported to me over the phone, "Dad has been a good helper today."

He loves to read books and has come up with his own titles for some of his books. My personal favorite is his name for There's a Wocket in my Pocket which he enthusiastically calls "Somebody jumped in my PAAAANTS!" (look at the cover of the book if you are wondering why he calls it this.)

I know there is so much more that I can't think of right now and I'm sure I will be coming back to add more over the next few days as I think of more of his classic words and sayings.

Grandma to the Rescue

Anyone who knows me personally or has followed this blog at all knows that I have a very close relationship with my mom and I think she is absolutely amazing. As I look back on the 29 years she has been my mother, I cannot think of a single time she has let me down -- not one. And believe me, there have been plenty of times that I have not been deserving of the unconditional love and support she has given me.
Quick story. When I was 14-years-old I got a job working in the snack shack at the city baseball fields. One day I got off work and walked out to the parking lot where my mom was supposed to be picking me up. She wasn't there. This was extremely unusual because she was never late. Since this was before the days of cell phones I had no way to get a hold of her so I just sat down and waited. I didn't know what had happened, but I knew she would be there. As I watched the road in the direction she would be coming I noticed someone approaching on a bike. As the biker got closer I realized it was my mom. She pulled up out of breath on my bike and explained that the car wouldn't start and she didn't want to leave me waiting so she just jumped on my bike and road as fast as she could to pick me up. I hopped on the bike with her and we pumped all the way home.
I am not claiming that my mom's mothering style is perfect, because I know it has it's faults, but I couldn't have asked for a better example than she has given me of how to love and serve your family. The ultimate example of her love and sacrifice was shown during Ellie's life. I could fill a novel if I started listing all of the things she did for my family that made it possible for us to not only survive, but to make the absolute most of the time we had with Ellie. When we found out Ellie would need a trach, my mom immediately volunteered to be trained along side us so she could help with Ellie's care, even though it pushed her incredibly far outside of her comfort zone. Words cannot adequately portray the love with which my mom cared for Ellie and oh, how that little girl loved her Grandma! Every single time my mom helped with Ellie, she would thank me for giving her the privilege of caring for Ellie.

Before  my mom had even left from helping us move and get settled at the beginning of the summer, she had already booked her next trip to visit in August. It had only been two months with almost daily Facetime chats, but boy were we all excited to have her back. She timed her trip so she would be there when Mason and Brynn started school so I'd have some extra help while I got the kids settled into their new routine. We got all the final errands and preparations for school done and even had some time to play before the first day rolled around.

Grandma took Brynn and Mason on a special date roller skating. They had an absolute blast!

We took a trip to the Children's museum which was a lot more enjoyable for everyone with a 3:4 adult/child ratio rather than the 1:4 we had been doing all summer.

And Scott and I squeezed in as many dates as possible and were so appreciative of the uninterrupted sleep we got while my mom offered to spend each night in Ellie's room.

My mom insisted on doing all of Ellie's care both day and night to give me a much needed break, but wouldn't you know I didn't get a single picture of her and Ellie together while she was here. It's at the top of my list of regrets. I'm so glad that my mom was able to be with Ellie in her prime. She got to see her developing personality and new tricks first hand. I'm so grateful she came to visit when she did.

The time to take Grandma to the airport came much too fast, and even though we knew we'd see her again in two months, it was hard to say goodbye.

Unfortunately, her return to Omaha was much sooner than planned.  A week after she left, Ellie was admitted to the hospital and my mom was ready to jump on the next flight to come help, but I insisted that we needed to do this on our own. After all, we were the ones who decided to move away and we couldn't expectd my mom to drop everything and run to our aid every time Ellie got sick. Plus she was already coming out in October to help when Ellie was scheduled to have surgery and would be in the hospital for a week. She stayed home but was ready to board the next flight the moment I said I needed her. That time came when I called my parents as I drove to the hospital on that horrible Sunday morning. They both packed their bags and immediately headed to the airport. They arrived a few hours later and despite their own grieving swooped in and took care of everything while I was hardly functioning. Those first few days were the hardest days of my entire life and I don't know how we would have survived them without my mom and dad there.

Fast forward six weeks and my mom came out to visit for the kids' Fall Break.

As always, her stay was filled with fun adventures including Vala's Pumpkin Patch, a return visit to Skate Daze, eating out every night, walks to the park, and plenty of games played.

As I have previously mentioned, she did most of this while Scott and I were getting some projects done around the house. I don't think I ever would have been able to take down Ellie's room without my mom there with me.

Probably the highlight of the trip was Grandma's traditional Halloween party. All of the kids have been devastated that we wouldn't be in Utah for the cousin Halloween party, so Grandma brought it to us. Mason was so excited the night before he couldn't sleep. It was worse than Christmas Eve. He woke my mom up at 2 am asking if it was time for the party yet.   

The party included making Grandma's witches brew, zombie sugar cookies, spider Ding Dongs, brain cupcakes, and of course following a spider web around the house to find their Halloween prize.

Once again, the time came to say goodbye to Grandma, and confirmed yet again how much we hate living away from family.

Now we are all counting down the days (55) until we go to Grandma's house for Christmas. 

Thank you, Mom (and Dad) for all the times you have come to my rescue throughout my life. 

I love you!!

Halloween

Happy Halloween from the Murrays.

Mason the Zombie whose latex zombie make-up - while being totally awesome in giving the appearance that his flesh was rotting off - turned out to be a little stiff and prevented him from smiling or making any facial expressions all night long. He didn't mind.

Brynn who joined the hoards of little girls dressed up as Elsa.

Miles the very excited and animated dinosaur. Anyone who mistakenly called him a dragon was quickly corrected with "I are NOT a dragon, I are a T-Rex!! ROOOAAR!!" He picked out his own costume (from the box of old costumes I gave him the choice from) and spent all month practicing his fiercest roar. What can I say, he was the highlight of my Halloween!!

This year as I walked around the neighborhood Trick-or-Treating with my kiddos it became very apparent that we have officially entered a new phase of life. There I was, with three kids and my hands were completely free. I wasn't pushing a stroller or carrying a diaper bag. I was simply strolling along after my kiddos as they ran from house to house collecting candy while Scott was at home dressed up in an Afro wig handing out candy. I step back and look at my life and think how in world did I get here? How is it possible that my babies aren't babies - or even toddlers - anymore. They are just a bunch of little people now. Crazy.

Fall

Out of all the seasons of the year, Fall is one of my favorites. Definitely in the top three. Okay, so really the only season I don't absolutely love is winter, but those cold winter months that force me to bundled up and stay inside help me fully appreciate Spring, Summer, and Fall when they come around again. I'm so grateful that Omaha has the same four distinct seasons I am used to. Our first Fall in Omaha has been pretty good to us. Last week we experienced the most amazing fall weather. The leaves had changed color and were starting to fall and with temperatures in the 70s we spent every second we could outside soaking it all in. On Saturday, all the kids from the neighborhood assembled in our backyard with their rakes in hand and made a big leaf pile at the bottom of our slide. They spent the next hour sliding head first into the pile. It was a wonderful afternoon! I have a feeling this will become a new fall tradition at our house.

Speaking of fall traditions, we have taken a picture of our kids playing in the leaves under our Maple tree in Orem every year since Mason was born (you can see past pictures here, here, here, and here). I was so sad to think this tradition would end after we moved, and decided we would have to continue it under the trees in our new yard. Unfortunately, it is still really hard for me to take pictures of "all my kids" together because it feels so incomplete. I just couldn't bring myself to take a picture without Ellie in it, so we took individual pictures instead.

After I originally posted this post, my mom sent me this picture of Ellie's grave that is beautifully covered in leaves right now. I guess she got a leaf picture after all. Thanks Mom!

This week the temperatures have steadily been dropping and have given us a reality check that winter is right around the corner. We are crossing our fingers that our first Omaha winter will be a mild one.

Funny Guy

Mason has been on a joke telling kick lately. His repertoire consists of jokes picks up along the way, but he also throws in quite a few Mason originals as well. His jokes keep us laughing pretty hard, although not always for the reason intended. But I must say that sometimes I am actually impressed with the material he comes up with. Here are a few of my personal favorite Mason original jokes.

Q: What do you call a Royal Cow?

A: Burger King

Q: What do you call a canine with a PhD?

A: A Dog-ter

Q: What day of the week are eggs afraid of?

A: fry-day

Q: Why did the boy pick his nose when he was dancing?

A: He wanted to do the boogy.

He could definitely have a future writing jokes for laffy taffy wrappers.  

My Ellie Corner

Last weekend I completed the most difficult remodeling project I've ever had to do. I took down Ellie's room, painted the purple walls gray (a painting project I have wanted to do since moving into our house), and filled it back up as Mason's new room. 

In two days it went from this...

to this

We did this much sooner than I anticipated we would, but it was time. From the day I came home from the hospital without Ellie, her room no longer felt like the room I knew and loved. Ellie's room was a place of constant activity. Even in the dead of night when everyone was sleeping, her room remained alive with the whirring and humming of her machines. Without Ellie, her room fell still and silent as if it had died right along with her. Then the awful day came when they picked up most of her machines. I had dreamed of the day I would watch the truck drive away with all of those big, obnoxious machines, but never once did I imagine it would be under these circumstances. It felt like the truck was backing out over my heart as it pulled away. Once her machines were gone it no longer looked or felt like her room at all. I've read stories of couples who have lost a child that leave their room set up for months or even years and it is a place where they go to remember their child. This was not the case for me. I couldn't even step foot in her room without feeling myself start to hyperventilate as I tried to fight off the flood of anxiety that hit me. It was such a real and painful reminder of the hole she left. Not to mention that Ellie's room happens to be prime real estate in our house and Mason, who so desperately wanted his own room, has been using the office on the main floor as a bedroom. It was actually working out really well, but a couple weeks ago he very sensitively said to Scott, "You know, I've been thinking....since Ellie isn't using her room anymore, I was wondering if maybe we could switch her and my rooms so I could be upstairs with the rest of you."  We knew that we would eventually move Mason up to her room, but since we weren't really going to switch their rooms, how were we supposed to go through and just box up all of Ellie's things and put them in storage? We weren't ready to do that yet. More than any other piece of furniture in her room, Scott and I were not ready to put away the changing table. That changing table felt like the essence of Ellie's room. Many of our sweetest interactions with Ellie took place while leaning over her on our little work station. I knew I wanted to have Ellie's hand and foot molds somewhere in our room and was looking for the right table to display them on until one day, a light bulb went off in my head. I could move Ellie's changing table into our room and fill the shelves with all of the items from her room that we weren't ready to put away yet. We have a little reading nook in our room that has always been one of my favorite places in our house and I knew it would be the absolute perfect place for it. We moved our bookshelf and reading chair to the now vacated study and brought in the changing table and chair from Ellie's room to make what is now my Ellie corner.

It turned out perfectly and I absolutely love it. It has all of the wonderful and happy memories of Ellie's room without the big empty void that her room carried with it. Some things might seem odd or random, but each and every detail has a special meaning in my heart. I have already spent many hours curled up in my Ellie chair reading books, watching shows, or writing posts for this blog. It is a healing place for me.

I couldn't have done this without the help of my mom who came to visit us for fall break and kept the kids entertained for two straight days while I worked. Scott took a day off work to be there as I went through the slow and emotional process of sorting out Ellie's things. We took down the crib that has been used in our house for 7 1/2 consecutive years knowing that we will never use it again. We went through her drawers of clothes picking out all of our favorite Ellie outfits to keep. We went through the many boxes of supplies we had and packed them up to donate to families in our community who need them. It was all very hard to do, but now that it is all done I feel much more at peace in our house. I have been able to keep little reminders of Ellie throughout the house, while eliminating a lot of the pain. It is just another step forward in our grief.