One Year Medical Update

Ellie ready and waiting for tubes to be put in her ears

Ellie has definitely been living up to her title of a medically complex child lately. With our move out of state fast approaching, all of her doctors have wanted to see her one last time and do any tests or procedures that need to be done before we leave and transfer her care to a new team of doctors. This resulted in 12 doctors appointments, 3 hearing tests, 1 swallow evaluation, 2 chest x-rays, 1 surgery to put tubes in her ears, 2 new respiratory medications, 1 hour of chest PT (30 minutes twice a day) added to her daily cares, and 1 new rare genetic disorder diagnosis all in a little over a month. I'm pretty sure that if I got in my car and just pushed the gas pedal it would drive to Primary Children's on its own. Despite us spending more time than ever at Primary's, Ellie has actually been healthier than ever the last couple months. Can it please stay summer forever?
I have decided I want to make a detailed record of how Ellie is doing medically each year so we can track her progress from year to year. So here is Ellie's one year medical update.

Genetics:
In addition to Trisomy 4p, she was given a secondary genetic diagnosis of Cornelia de Lange Syndrome based on clinical presentation along with abnormalities found in gene identified with mild CdLS. (A detailed post on this coming soon.)

ENT:
Had chronic fluid in ears for several months and while we have never worried about her hearing, she failed 2 hearing tests. She had tubes put in her ears in March and participated in a clinical trial for a new kind of tubes that Dr. Park felt would benefit her with her extremely small and extra waxy ear canals (our normal pediatrician can't even see in her ears. The ENT has to use special equipment for her tiny canals.) Hearing test appears to have improved since tubes.
Still has 3.0 Neo trach in place. Has a significant air leak around trach which allows us to hear her voice more. Tolerates speaking valve well and we are starting to increase the time she wears it each day and hope to progress to capping trials soon. Hoping for decannulation next year.
Continues to hold her breath when she cries really hard. Has been having increasing occurrences (at least once a day now) where it escalates until she can't take a breath and she turns an ugly color of purple and then her body goes rigid and her eyes roll back and become fixed and then she'll take a big gasp and slowly regain her color and becomes responsive again. The doctors can't give us any physiological reason why this is happening. I started to worry that she might be having seizures because they are so common in trisomy 4p, but we were informed if they are always brought on by extreme crying then they are not seizures. We recently learned how common these types of episodes are with many 4p kiddos and it has made me worry a little less that we are missing a major problem, but it doesn't make me feel any better about the regular hypoxia her brain is experiencing. We try really hard to sooth her before it escalates and then try to give supportive oxygen to help her recover quicker when it does happen.

Pulmonology:
On room air during the day, but still requires oxygen when sleeping or when sick. Had several chest x-rays when healthy and not eating orally that showed decreased lung volume and patchy opacities. Added scheduled Albuterol and Qvar to respiratory medications as well as 30 minutes of chest PT (percussing her chest and back in 8 different places to help break up secretions and move them out of her lungs) every morning and night. A month after adding these therapies Ellie's lungs sound less coarse, tight, and wheezy than they ever have.

GI:
After switching to Soy formula in December Ellie stopped crying all the time and started tolerating her feeds very well and steadily gained weight until she was in the 15% at 10 months old. But since then she hasn't been tolerating her feeds as well and failed to gain any weight or length from 10-12 months. She still weighs 16.5 pounds and is 26.5 inches long. We are switching her to Ailementum formula to see if the problem is that she has developed an intolerance to soy. If that doesn't help than I will be discussing gastric motility issues that are prevalent in 4p kiddos with our new GI doc in Omaha. We currently give her three 5oz "boluses" over 1.5-2 hours during the day and run her feeds at 40ml/hr for 12 hours at night.
Her last swallow evaluation in March was her best one yet, but it had been so long since she had eaten anything orally that she had developed a pretty bad oral aversion. If we even tried to touch her lips she would gag and shutter and cry. We gave up trying to get her to take a bottle and just focused on giving her tastes of foods by putting some on her lips and letting her explore the tastes and textures. At first she hated everything, but slowly she has been warming up to her tastes and now she has several "foods" she likes the taste of like spaghetti sauce, gravy, bananas, sweet potatoes, frosting, ice cream, and suckers. She knows when we are eating and gets excited to taste some food.

Opthomology:
All structures in eye are normal, but small. Vision is good. Doctor is amazed at how straight her eyes are considering the prevalence of eye problems in both trisomy 4p and CdLS. Has been having regular check ups to monitor her tear ducts that remain clogged or possibly malformed or not formed at all (very common in CdLS). At this point she doesn't require surgery to fix it, but may down the road.

Cardiology:
Ellie's heart rate becomes irregular and drops into the 50-60s at night when she is deep asleep. After several echos and a holter monitor the doctor doesn't know why her heart rate does this, but there are no structural problems with her heart and it is not negatively affecting her perfusion so it just means her monitors alarm a lot more during the night.

Physical Development:
Latest assessment with Kids on the Move puts her at a 5 month old level in both physical and cognitive development. She rolls well, is starting to sit independently, but still does not bare any weight on her legs. She is starting to open and useher hands more but lacks any real fine motor skills.

Easter

Easter Sunday was a special day for our family this year. RSV season was over and the doctors finally gave us the go ahead to start taking Ellie out more, including taking her to church. After nearly a year, we were finally able to attend church as a family of six. Ellie did great and even flashed some darling smiles to a few select people. Even though I spent the majority of sacrament meeting wrestling kids on and off my lap, I was able to reflect a lot on the gift of the atonement and the significant role it has played in our life the last year. It was a wonderful Easter.

Seven!

I'm still not sure how it is possible, but this handsome boy turned seven last month. It just so happened that Mason's class field trip to the zoo fell on the same day, which made it a pretty awesome day to have a birthday. It was good that he got to do something special during school because he had to share the spotlight for the rest of the day since it was also Scott's graduation.  Don't feel too bad for him, though, because that meant he got to have his birthday party a week early. Mason wanted a Star Wars party this year and I decided nothing says Star Wars like some good old Laser Tag. So we loaded the kids up and spent the afternoon playing laser tag, rock climbing, and playing in the arcade at Trafalga. None of the kids had ever played laser tag before and didn't quite understand what they would be doing. It was funny watching how excited yet nervous they all were beforehand. I think a few of them thought they were going to be shooting real lasers at each other. Scott went in and played with them and said they all had a complete blast, but I already knew that by the way they came running out of the exit exclaiming, "That was awesome!! Let's play again!" and so we did. I have to be honest, this was a total cop out party. I didn't have the time or energy to plan, host, and clean up a party for a bunch of high energy 7-year-olds. I even bought Mason's cake from the grocery store instead of making one...gasp. But I really don't think Mason and his friends could have had any more fun. It turned out to be perfect.

Korbin Bascom, Daniel Glahn, Mason, Cache McCann, Claire Kidd, and Coleman Pearson.

Coleman and Mason living it up in the arcade

Now for a little bit about 7-year-old Mason:

• Mason is currently obsessed with Lego Star Wars and he carries his Lego Star Wars visual dictionary, which shows every Lego Star Wars set ever made and tells all about them, everywhere with him and practically has the whole thing memorized.
• He enjoyed doing a couple sessions of basketball camp this winter and has LOVED playing his first year of little league this spring. He kind of fizzled out during spring soccer and has decided he doesn't really like playing soccer anymore.
• When asked what his favorite subject is in school he says Math. 
• He is still a veracious reader and reads well above grade level.
• His teacher tells me that he has all the girls swooning over him. I believe it. He is a fun and handsome guy.
• Mason loves to be silly and can get his siblings and friends rolling with laughter, but frankly I find it more annoying than funny.
• He has lost 5 teeth (including his prematurely knocked out tooth) up to date and has several wiggly teeth that are threatening to come out soon.
• He is pretty tall and very skinny.
• Mason is still very creative and imaginative. I love hearing him make all his little noises and voices as he plays with his Legos all around the house. 
• He enjoys riding his bike around and trying out new "tricks" like riding with one arm behind his back.
• He is proud to be a big kid and has started trading in his kids meals for things like Big Macs. 
• He is a home body. He despises having to run errands with me and doesn't particularly like going places unless it is something he is interested in. 

I love his great smile!

Tulip Festival

Mason's Minecraft Creeper valentine box.

"Mom, take a picture. I want to see how creepy I look."

Happy Birthday Mason!

Adult ICU

Headed out the door for my last shift on Adult ICU.

Eleven years ago I made one of the hardest decisions I've ever had to make when I gave up my spot on BYU's volleyball team so I could pursue a career in nursing. It had been my dream for as long as I could remember to be a collegiate athlete. I had dedicated all of my high school years to attaining that goal and had reached it. But it felt so wrong. I couldn't shake the feeling that it was time to hang up my volleyball gear and move on. I knew it was because there was one thing in life I wanted more than anything, and that was to become a nurse. So once I found out that I could not be on the volleyball team and be in the nursing program at the same time, I knew what I had to do. I met with the coach and told her my decision to quit the team. I immediately knew I had made the right decision and have never had a moment's regret since. For the next two years I poured everything I had into my school and being accepted into the highly competitive nursing program while working at a cardiology office. Once in the program, I was lucky enough to land a job at the hospital as a secretary/nurses aide on the Intermediate Care Unit (IMC), a step-down unit from the ICU. While working weekend nights for the next 2 1/2 years it became clear to me that critical care is where I wanted to work. I graduated and was thrilled to be hired onto IMC which a few years later turned into the Adult ICU.

My job as an ICU nurse wasn't always glamorous. I spent my shifts dealing with every kind of nasty body fluid you can imagine (and many you can't imagine), bathing overweight people, fighting confused and combative patients, dealing with crazy families, and many more unpleasant things. But I was also able to use my knowledge and skills to save people who should have died, help ease someone's pain, hold the hand of a dying patient and tenderly take care for their body after passing, or simply give family members the chance to go home and get some sleep while I promised to care for their loved one like they were my own mother or father. I loved it all...the good, the bad, and the ugly.

Not only did I love the work I did, but I loved the people I worked with. When you work beside someone in the ICU it is like going into the trenches with them. You have to have each others' back. I made some pretty incredible friends over the years. So many great memories of Sunday night dinners, laughing until I cried (everything is extremely hilarious at 3am), doing stairs to try and burn off all the junk food we ate, problem solving through some tough clean ups, the list could go on and on. I will forever cherish these friendships.

My job has been such a blessing for our family over the last 9 years. I have worked anywhere from prn hours (2 shifts a month) to full time (3 shifts a week) as our situation has permitted. I strongly believe that having an opportunity to get out of the house and do something I love has made me a better mom when I am home. Because I was always working nights (6pm-6am) my kids hardly knew I was gone and it came at no expense to them. It actually allowed them to build strong and wonderful relationships with Scott and my mom that I don't think would have been the same had I not worked. For 4 year I had the same schedule where I worked every other Friday, Saturday, and Sunday night. The kids looked forward to their weekends when Dad was in charge and then on Monday morning they got to go to Grandma's house to play in the morning while I got a few hours of sleep. It worked out perfectly. I can hardly think of a time (besides when Brynn was a baby) that any of the kids were upset when I left to work. I can, however, remember several times I was put on call or cancelled that my kids would cry and whine in protest that I was going to ruin their party with Dad and they wouldn't get to go to Grandma's to play in the morning. I chose to be a nurse because I knew it would allow me to be the kind of mother I wanted to be. What I didn't know was choosing to be a nurse allowed me to be the kind of mother I needed to be for Ellie. I cannot even begin to explain what a blessing my experience and knowledge has been while we have been caring for Ellie. While the majority of the time I was working we were not relying on my income, there came a time when circumstances changed and Scott went back to graduate school that I was able to step up and provide for our family so we could avoid debt. When I look back on all the sacrifices it required for me to become a nurse (quitting volleyball, working a lot more than playing the first 3 years of marriage, taking my physiology final the night before our wedding, starting back in class and clinicals 5 days after having my first baby, etc.) it was all worth it.

I still cannot believe that after nearly 9 years of working on the Adult ICU (formerly IMC) I am done. I will never get dressed in my blue scrubs and kiss my family goodnight. I will never walk down the hall straining my eyes to see the assignment board to see what fun I am getting into for the next 12 hours. I will never sit in the core eating chicken strips and fries and laughing with my friends. I will never stumble out to my car in the morning exhausted and then pull into my driveway wondering how I made it home. I am going to miss it, that is for sure.

Graduation

 Two years ago our family embarked on an adventure when we decided it was time for Scott to take his career to the next level by getting his MBA. When he enrolled in BYU's full-time MBA program we knew it wouldn't be easy with three young children, but we just crossed our fingers and hoped for the best. Nothing could have prepared us for what life would throw at us during these two years. But here we stand at the end of this journey feeling a little tattered and torn, but we made it. I am so proud of Scott and all of his hard work to get to this point. I have no idea how he managed to balance everything that he was juggling, but he made it look easy. On his graduation day he turned down several invitations to play golf so he could accompany Mason's class on a field trip to the zoo because Mason had asked him to. That pretty much sums it up. Scott has always put his family first, school second, and himself last. Thank you Scott! I consider myself the luckiest woman in the world to have married you!

Scott's first semester group that made the first semester managable.

Our wonderful friends the Christensens and Smiths.

Brian, Carl, and Scott

Brooke, Abby, and me. I love these girls!

Spring Break

Spring break was good to us this year. It came at the perfect time when all of us needed a break from our day to day routine. The weather was absolutely beautiful the entire week which just added to the fun. For the first half of the week the kids and I balanced relaxation at home with some fun local outings while Scott was busy with his last full week of class and homework. Our outings included Provo Beach resort with cousins, the new Provo Rec Center pool, Aquarium with Grandma, and a sleepover with Hale cousins. Once Scott finished up class on Thursday we packed up and headed down to the Zion house for the weekend.

My mom volunteered to watch Ellie while we went since we still have not figured out a plausible way to travel with Ellie and all of her equipment. I have very mixed emotions when we leave Ellie to go do something as a family. It sounds awful of me to say, but it is always a nice break for me to get away from the constant care Ellie requires and be able to relax and enjoy some time with my other kiddos. I am able to recharge my battery (aka get a good night's sleep) and return ready to continue taking care of Ellie. At the same time it causes a lot of sadness in me. I absolutely hate that anytime we want to go do something fun we have to leave Ellie behind. Anyway, we were very grateful to my mom for watching Ellie so we could visit the Zion house and spend time with Scott's family. Although, if you know my mom then you know that she thought we were doing her a favor by letting her spend time with Ellie.

Our days at the Zion house were filled with riding bikes, swimming, four wheeler rides, the Orderville sand hill, a birthday party for Lyndee, and a lot of playing with cousins (and aunts and uncles). Mason, Brynn, and Miles had the time of their life and were sad when it was time to leave. Scott was able to spend a day mountain biking with Steve and then golfing with his Dad and Steve. We have been so fortunate to live just a few hours away from this amazing retreat. We are definitely going to miss our quick trips down here after we move to Omaha. Thanks Mike and Linda for inviting us to come.

Flat Stanley joined us at the Zion house for a school assignment for Mason.

Flat Stanley and Mason both loved going out on 4-wheeler rides

Mason and Karissa adopted two horned toads as their pets for the week

Flat Stanley liked playing with Sara and Cutie.

Miles was obsessed with the "Big Huge Tractor". Anytime I couldn't find him I was sure to find him sitting on the 4-wheeler in the garage.

Miles on one of his many rides.

Miles has gotten the hang of his strider bike and loved taking off down the hills as fast as he could go. It nearly gave me a heart attack every time.

Karissa, Brynn, and Keyana put a lot of miles on their bikes that weekend.

Brynn LOVES playing with her aunts.

 When I was taking the above picture of the girls Karissa asked if we could take some "style pictures". I told her I wasn't sure what style pictures were so she preceded to show us how to strike different poses for pictures. I have never laughed so hard! I have dozens of these "style pictures" on my camera, but chose just a couple of my favorites to share.

Karissa is such a character.

 It was our family's first time to the sand hill in Orderville. It is just this big hill of the softest, warmest sand. The kids had a blast!

Miles would sprint down the hill full speed until he face planted.

Mason liked climbing up on the big rocks with the big kids.

Leave it to Keyana to organize a train to slide down the face of the mountain.

 Jennifer planned an Easter themed Birthday party for Lyndee where we colored Easter eggs.

Isla and Miles decided to work together on coloring the eggs.

 On the last day Scott and I were able to sneak away for a 4-wheeler ride with Steve and Jenna.

I'm am definitely going to miss all the beautiful recreation we have all around us in Utah.