One of a Kind

March is Trisomy Awareness month and so I decided now is as good a time as any for me to finally tackle another of my informative posts. This one about Chromosomes and Trisomy. I have put off doing this post for several months because, well frankly, this genetics stuff is complicated and I'm not sure I entirely understand it. But here is my best shot at explaining about chromosomes and what makes Ellie unique. 

Chromosomes are found in the nucleus of all body cells and carry the genetic characteristics of each individual. Every person has 22 pairs of human chromosomes with an unequal 23rd pair  (XY for males, XX for females). 

People with a trisomy have an extra chromosome added to one of the normal pairs. The most common trisomy is Trisomy 21 (Down Syndrome). The presence of an extra chromosome, such as in Trisomy 21, results in a characteristic pattern of features, birth defects, and medical problems that is recognized as a syndrome.  

Ellie's trisomy does not effect the entire 4th chromosome. Each chromosome has a short "p" arm and a longer "q" arm. Ellie has a duplication of the short p arm of chromosome 4, resulting in the diagnosis of Trisomy 4p. Remember that there are only somewhere around 100 documented cases of Trisomy 4p world wide (that number is a bit outdated and I think it is being diagnosed more and more frequently as genetic testing is becoming more widely available), but this next part is part of what truly makes Ellie one of a kind. Not all 4p duplications are the same. Some affected people have smaller, partial duplications for example only 4p16.3-4p16.1 is duplicated or 4p16.3-4p15.1 (see diagram below). Generally, the smaller the duplication the less severely affected the individual. Ellie is one of the few who has a complete duplication (4p16.3-4p11). This means it is likely that she will be more severely affected.

 

But that isn't where the uniqueness ends. Each person further varies in where their duplication is translocated (where it is attached). Some remain attached to chromosome 4, others are attached to a different chromosome. Some are inverted (the duplication is in a backwards sequence) and some involve deletions (a chromosome has missing material that the duplication has taken of the place of). In Ellie's case, her 4p duplication is translocated onto chromosome 15 without an inversion or any deletions. Below I have taken a typical female karotype and colored the duplicated 4p arm red and colored an additional red 4p arm to show where Ellie's duplication is located.

After comparing specifics of everyone's duplications within our 4p group I have yet to hear of any two children who have the same duplication. That is why there is so much variability in presentation between all of them. Each of these kiddos is literally one of a kind. Pretty amazing, if you ask me.  

So why? What caused this change in Ellie's chromosomes? Believe me, I have spent a lot of sleepless nights thinking about this. Wondering what I did or didn't do during those 9 months when it was my sole responsibility to give Ellie everything she needed to grow and develop. Was it because I ate too many chicken strips and fries and not enough vegetables? Was it because I ate deli meat or because I stood in front of the microwave while it was going? Was it because I trained for and ran Ragnar when I was 13 weeks pregnant? Was it because I didn't know I was pregnant for several months and wasn't taking prenatal vitamins? Was it because I was working too much and sleeping too little? Was it because this was my fourth pregnancy and I just got a little careless and didn't worry about all the little things? It took me a while to let myself off the hook, but it really was not because of anything I or anyone else did. This was something that was built into who Ellie is from the very beginning and there is absolutely nothing I could have done to prevent it from happening.
In 75% of cases one of the parents has a balanced translocation, which is an inherited rearrangement of chromosomes where some of the chromosomal material is out of order, but it is all still there, so it doesn't cause problems. (For more information on balanced translocations go here) The other 25% are referred to as de novo, meaning it is a random mutation. Scott and I have not been tested since it is a very expensive test and the results really only matter if we were planning on having more children, which we are not. The only other implication of one of us having a balanced translocation is that any of our three older children could also have a balanced translocation. We will let them each decide when they get older if they want to be tested. I am highly suspicious that Ellie's is de novo seeing as our history doesn't really fit the mold of families that have balanced translocations in them. Both Scott and I come from large families that have no history of abnormalities or problems. We never had a hard time getting pregnant, never had any miscarriages, and had three typical children before having Ellie. I could be wrong, but that is my gut instinct.

Well, there you have it. Was that clear as mud?

Greatest Snow on Earth

The view from the top of the back mountain at Sundance.

Growing up in Utah winter never bothered me. I had skiing, snowboarding, sledding, snow shoeing, bobsleding and skeleton (yes, I was on a team that trained for these in Park City my sophomore year in high school), and plenty of other winter activities and sports to keep me occupied. We do, after all, have the greatest snow on earth here in Utah. Or at least that's what the license plates say. Then I started having kids and winter quickly became a time I dreaded. A time when the walls of my house started to close in and feel like a prison cell. Sure we still had some great moments out in the snow, but those usually only lasted a short time until little fingers started getting cold (because why would a toddler ever keep their gloves on?) Well this year I am happy to report that I am once again a fan of winter. I guess my kids are finally getting old enough to enjoy all that Utah snow has to offer. We didn't have record breaking snowfall by any means, but any day that snow was on the ground the kids would throw on all their snow gear and head outside to play. Each trip outside was followed with mugs of hot chocolate and marshmallows around the kitchen table. At times it felt like snow gears was constantly drapped around the house drying, but I didn't mind at all because so many great memories were being made. 

Scott and I were even able to sneak away for a day and go skiing/snowboarding at Sundance to celebrate our birthdays. It always feels amazing to fly down the mountain and feel like a younger and livelier version of myself rather than the boring mother of four I really am. It was an amazing day.

Revisiting the spot where Scott proposed to me 9 1/2 years ago.

Scott and I weren't the only ones on the slopes this year. Mason got his first ski lesson from Grandpa Val this year. He had a blast and can't wait to get out again. We were hoping to get Brynn out for her first time as well, but at the rate the snow is melting around here, we might not get her out until next year.

All in all we had a pretty fun, snow filled, winter. But you still won't hear any of us complaining about the 60 degree spring temperatures we've started getting a taste of.

Mother Brynn

At 4 years old Brynn has already decided what she wants to be when she grows up...a grandma.  "But first I have to be a mom", she will explain to you. Brynn is already quite the little mother around our house. She loves to sit on the counter to help me cook, make her job list and check things off as she completes them, tell Scott how to give Ellie a bath and do her trach care when I'm at work (in actuality he knows exactly what he's doing, but Brynn seems sure that if she is not right there telling him that we don't take Ellie's g-tube out then he will have no idea what to do), and bosses around Mason and Miles. She really has become my right hand gal. I am dreading the fast approaching day she starts kindergarten and will be gone every day. I often sit back and watch Brynn in amazement. She has such a good heart and wants nothing more than to do what is right and make others happy. She is always singing and dancing around with a big smile on her face. She is pleasant to be around and easy to get along with, which has led to her having a lot of friends, boys and girls alike. I have no doubt she will be an excellent mom and grandma and that she will achieve anything else that she puts her mind to in this life. When I grow up...I want to be more like Brynn.

New Friends

Today we were lucky enough to spend some time with our new friends, the Rodgers. Sarah has become a wonderful friend of mine over the last 6 months through the 4p facebook group. I have learned so much from Sarah and Blake and their amazing children, Stetson (11) and Brooklyn (8), who both have trisomy 4p. I was thrilled when I found out that doctors appointments were bringing them down to Utah and we would finally be able to meet some of our 4p friends in person. We met up with them at the Dinosaur Museum at Thanksgiving Point. Stetson and Brooklyn fell head over heels in love with Ellie and always wanted to know where the baby was and what she was doing. Watching them love on her was pure sweetness! They are the most darling and well behaved kids (they especially shined in the latter area next to Miles who was taking advantage of us being distracted and climbing in all the exhibits and setting off emergency exit alarms -- mother of the year right here). I loved watching their little hands that remind me so much of Ellie's explore new things, listening to everything they had to say, and watching them spread love to all of us! It has made me so happy and excited to watch Ellie grow up and hopefully be able to experience similar things with her.  It was so much fun for our whole family get to know the Rodgers a little better.

Sarah and soon to be baby boy, Ellie, Rachel, Stetson, and Brooklyn

Digging for Fossils.

Playing with Ellie was way more fun than playing in sand and water.

Love

Last night as I lay in bed looking at the pictures on my phone, my heart was so full of love as I revisited precious scenes that have taken place lately. So in honor of Valentines Days here is a little peak at some of the things I love most.

This could be my favorite picture of all time. 

Pooky and Papa come visit the kids every Saturday. Miles always looks forward to their visit. This particular day he wanted nothing more than Papa to do his quiet book with him. My sweet Grandpa didn't even hesitate to get down on the floor and play with him. Love this!!

These two and their Legos.

Love these little belly rolls. Ellie weighed in at 14lbs at her last appointment, putting her in the 2%.

These two have the sweetest relationship.

Been loving the snow this winter.

 

Scott turned 31 and decided it was time to try a new look. 

I am a big fan!

This little girl has her Daddy wrapped around her little finger. 

We were at Mason's school and saw this hanging in the hall outside the classroom. We weren't surprised at what made the list of things he loves.

Then we stepped back and looked at all of the others and noticed a common theme of loving Jesus, family members, and Mrs. Nelson. It made us laugh that we didn't make the cut over animals, brains, and ninja turtles.

This little one is 9 months old (in 2 days).
One of her favorite things to do is kneel up to the couch cushion and play her piano. Who knew therapy could be so fun.

 But the most exciting news is she has started sitting!!! 

At least for a short period of time before she starts to fold over in half. Still working on building that core strength. But we are pretty impressed!!

Happy Valentine's Day!

Naughty Monkey

Miles' favorite book right now is Dear Zoo. How did it take me until my third child to discover this classic? In the book a child writes to the zoo and asks them to send him a pet. They send him animal after animal but he sends them all back for reasons like being too tall or too scary. Miles favorite page is the one with the Monkey that is too naughty.  So lately when Miles does something that makes me want to pull out my hair I tell him in a teasing and loving way, "You are a naughty monkey, I'm going to send you back!"  The last few days Miles has been announcing when he gets into trouble by saying, "Miles naughty monkey....Miles dump cereal on floor." or whatever else he has done. It's a good thing he is so darn cute, because he sure is a busy and naughty two year old, but we'll keep him all the same.

Rainbow Looms are now only allowed when Miles is sleeping.

One day I went in to get Ellie up from her nap and apparently the stuffed animal fairy had visited her while she was asleep.

Lessons Learned

A few months ago a sweet friend of mine shared this quote from Elder Ronald A. Rasband's April 2012 LDS General Conference talk with me.

"If you come upon a person who is drowning, would you ask if they need help—or would it be better to just jump in and save them from the deepening waters? The offer, while well meaning and often given, “Let me know if I can help” is really no help at all."

Jump in and save us is exactly what countless family, friends, and neighbors have done for us the last 9 months. They have shown by example that there is so much more to compassion than feeling sorry for people. That true compassion is shown with Christlike love and service.  I would consider myself a compassionate and service oriented person, but I now realize that while I am full of good intentions, I do not execute them often enough. I would probably watch a family member or friend who lived far away going through a difficult situation and think, "I really wish I lived closer so I could help" instead of finding something I could do, like getting them an Amazon Prime membership so they could get free 2 day shipping on diapers and anything else they need rather than having to run to the store, like my sister-in-law did for me. I probably would say, "I would love to help more but I have my own family with 4 young children I have to take care of" instead of offering to do their weekly grocery shopping in addition to my own like my other sister-in-law did. I probably would think I had helped enough after arranging a month of meals being taken into the family instead of throwing a freezer meal shower for them and filling their freezer with even more meals like my ward did for me. I probably would think "Maybe I can help watch her kids when she goes back to work" instead of showing up with an envelope containing enough money to pay their monthly bills so she wouldn't have to worry about going back to work for another month like a wonderful friend of mine did. I probably would give some type of contribution to their Christmas but doubt I would plan and execute a fun 12 days of Christmas for them, or pack a fun filled and generous package and ship it across the country to them, or go and pick out new clothes for all the the kids the way others did for us. I probably would pray that their mom would be able to meet all of her children's needs rather than being an answer to her prayers and providing her with the things she needs to better care for them all like so many people have done including the person who bought this new chair for Ellie's room that has seriously changed our life. It seems like such a little thing, but it means several times a day I can keep Miles and Brynn close to me instead of sending them away when I'm taking care of Ellie.

The kiddos loving our new double rocker!

Storytime

Just because she's the cutest thing ever!!

A professional masseuse being sent to my house to give me a massage, bags of groceries being dropped off, getting phone calls daily from friends and family at the store asking if I need them to pick anything up, playdates scheduled for big kids, neighbors mowing our lawn for several months, someone weeding all of our flowerbeds that hadn't been weeded all summer, sisters from our ward coming and cleaning our entire house, packages arriving throughout the summer full of fun things for my big kids so they wouldn't feel forgotten, friends and neighbors driving Brynn and Mason to and from school every day so I don't have to take Ellie out,  a friend of a friend giving us thousands of dollars in trach supplies and equipment they bought when their little girl had a trach, my aunt and grandma finding and getting Ellie custom made sleepers for g-tubes, my mom coming over every morning and afternoon to help establish a good routine and consistency for the big kids when school started and we were still getting used to all of Ellie's care, a neighbor letting us keep her generator at our house in case the power went out until we were able to get our own, friends stopping by and staying in touch even when I'm horrible at returning phones calls and emails, the list could go on and on.  I know there are many people who stepped in and did things for us when things were spinning so far out of control that I wasn't even aware how things were getting done. We have had to turn away just as many people who were wanting and willing to help, but we already had more help then we knew what to do with.

At times I have been embarrassed...even humiliated...by the amount of generosity and help we have been the recipients of. We're not "those people". I never in a million years would have imagined us being in a position that required so much help. To have my independence and self sufficiency taken away was devastating for me. But I have been humbled as time after time when I felt like the obstacle that stood before me was insurmountable, I was lifted up by all of these amazing people and somehow I got through it. It wasn't always the physical things people did. A lot of time it was simply an outpouring of love and support that gave me the strength to carry on when I didn't think I could.

I am happy to report that things have settled down and we are doing well. We are firm believers in self sufficiency and while we are so grateful for the help we have received during this unexpected crisis, we feel that it is now our responsibility to figure out how to create a new normal and learn how to take care of our family even with our added needs. The last few months we have been working hard to do more on our own and learn how to stand on our own two feet again. Boy does it feel good!! It's amazing the hope and joy that feeling in control of your own life and your own future can bring. We are looking forward to the next few months as Scott prepares to graduate with his hard earned MBA and we are deciding where the next chapter of our family's life will take place. I am personally very excited to finally be in a position where I am able to look around myself and start finding ways to payback all the love and service that has been shown to me. I have promised myself and my Heavenly Father that I will no longer be satisfied just to have good intentions, but that I will go out and do.

Thank you so much to each and every one of you!! We couldn't have done this without you. We love you all very much.