Quick catching up before the major news

A quick look back at things that have happened recently.

Finished with 6th grade!  I cannot believe that my little girl is growing up!!!  She is a beautiful girl and I am glad that she is mine.  I am so proud of her!!  She is going to head into bigger and better things.  Eek!  I can't believe that she will be in Jr High!  Jr High kids are a pain the butt!!!!  She is not exempt!!!

Before school.

Sitting with her class.

Giving her little speech.

Just remember you are always my little girl!!  I will always be cheering for you even if I am crying. :)

A week and a half after that was youth conference.  All of the youth in my ward 12-18 we going if they wanted to, and you know my kids of course wanted to go.  So that means mommy or daddy gets to go too, since Rhett wants to go.  Sometimes I wish that I could just send him off with a hug and kiss and a I love you.  But we all know that is never going to happen. In other words, I headed to youth conference with Rhett and the rest of the youth in my ward including Nikole.  I packed my car(well, really not a car but a suburban) full of oxygen for Rhett including his machines clothes for the week and a prayer that everything would be ok since we were going so far away from home.  Between the two kids and my stuff for the whole week our car was totally packed!  If anyone riding in my car wanted to bring anything with them they would need to put it by their feet or in their own laps because that was all the space that I had open.  We went up to some lovely cabins near Palisade Reservoir.  I took a ton of pictures, mostly because I was there to make sure nothing happened to Rhett and when he couldn't do what everyone else was doing, that left me with not a lot to do other then take pictures. :)  I enjoyed it lots.  Here are a few pictures since I can't put them all up. LOL!

This is what I walked into when we got there.

The view from the boys cabin, when we got there.

The meeting before activities half of the room in the boys cabin.

The meeting before activities half of the room in the boys cabin.

Group of human pretzel.

Rhett's group human pretzel.

His group watching another group finish.

Human pretzel.

Her group of human pretzels.

There is Rhett at the end. Trust train.

He got too tired and needed to come back to sit in the cabin.

Getting ready for a trust activity.

Trusting activity.

Trusting activity.

Trusting others.

Trust activity at the boys cabin.

Trust circle.

Trust circle.

Girls.

Boys. Did they win? Nope. Girls win every time, like 3 times.

Yep us together.

Silly monster waiting for those on the hike, with a headache again.

My zoom is awesome!  Took the picture from my car and it was a ways away.

Yes I see it is blurry, but we saw a whole bunch of these.

My flower from Nikole after her hike with the group.

No I was driving not taking the pictures.

I just thought that this was funny.

He wanted a picture of the old car and him together.

My little group that came in my car with me.

How close can you get?  I am not zoomed at all.

Our whole group!

The only time Rhett went canoeing.

They ended up with a leak.

Glad Rhett was in that boat.

He loves doing this.  Doesn't do it often.

The day was beautiful and it was great not to have rain pouring down on us.

See the water?  Yep a leak.

When we arrived Rhett had this monsterous headache and I gave him some meds for it and went on my way trying to get everything in the cabin.  When his headache didn't go away I asked the priesthood leaders to give him a blessing.  So Rhett got a blessing and was able to make it the whole week.  We stopped in Lava Hot Springs on our way home.  I was able to say hi to the family that I have there.  Love them and can't wait to see them again.

The next week was Brighton Camp for Nikole and I sent her with the camera.  She had a blast taking pictures and loved going.  I was sure glad since that week was a long week without her here.  Here are a few pictures from her.

Her bunk mate.

Her cabin.

The bathroom

The name of the bathroom

Hiking!!!

She loves animals!

Those in her cabin and her counselor.

Gotta love them bunks. LOL!!

Cookin!

A bell since she is too quite for her own good around others.

Let's sleep under the stars.

The main dining hall.

"Mom, if you get lost here is a map." Does she think I am going to go there?

Headed home!

Get back and it is down pouring.  Thank you for the water!

So it was a long week but I was glad that she was able to take pictures and have fun memories that will last a lifetime.

While Nikole was at camp the two boys with birthdays in June and July had their well child and Rhett was referred to a dietitian since he is now a big boy and his height has plateaued and he is the same height as Gavin.  We also told the doctor that Rhett has had this headache over a week and so the doctor wanted to see how he did  that week.  Well it continued to be there even if it was a little pounding.  Called the doctor and he wanted to see where his CO levels were at so we went up to Primary Children's Hospital and has some blood drawn.  His CO levels is up a little and his blood count is a little low.  So the doctor wants him on iron to help with his blood levels.

To be continued..... I know but I have to do a few things and I figure this post is pretty long. LOL

Geez.... Too close for comfort

I have seen friends on Facebook that take these quizzes and so I was like what the heck why not, but I am so not going to encourage others to take them because they are just stupid. Right? When I took this one my heart dropped. It made me sad and I figured since I am going to be working on updating my blog more often then I will just put my results here even though they hit kinda close to home. This was my "what emotion are you guided by" quiz.

Vulnerability

You are a very emotional, sensitive person. You act upon your feelings, even if it's hurting you, and your strong and vivid emotions tend to get the best of you. Being vulnerable is not a negative thing - it makes you more aware of other people's emotions and when they might be hurt. Trying to grow a thicker skin might be a good idea, but don't hurry. Keep your tender soul alive for as long as you can, it's precious

After getting this result I decided that they were just messing with my head. So I took another quiz. The name of that quiz is "which mythical creature is hidden inside you". I just starting crying when I got his result.

Unicorn

You prefer to hide from most, sharing your magic only with the innocent, pure and untainted. Rare and unique, some may wish to conquer you to prove something, but they're up for quite a fight, as behind the tenderness of your gaze hides immense strength and ability

So I was honestly not expecting that either one of these answers and to make matters worse it is how I feel. I thought they were suppose to be fun nothing but nonsense but I guess I am wrong on at least two accounts.

I have just returned from taking Rhett and a few other youth to youth conference where they learned about trust. I will post pictures tonight. It was lots of fun and very special to all of us that attended.

NEWS!!!!

I can hardly stand it.....  I got a call Monday around 11 am from the genetic counselor that we work with at the U of U.  She left a message since I was swamped and couldn't answer my phone right away.  When I had a moment around 3 pm I called her back.  When she finally returned my call I was speechless.  I was nervous since in her message she said that she had some news.  I think I was anxious but who wouldn't be in my shoes when you know nothing.

She goes on to tell me that they had found two mutations in Rhett and Dylan's NEK1 gene.  She said that I have one and my husband has one and so does Nikole and Gavin.  But in Rhett and Dylan they have two.  As she was talking to me I was instantly researching online what I could about what she was telling me.  LOL!  You can tell me but I will do my homework and have lots of questions later.  She said it is called "Short rib-polydactyly syndrome type 2".  I was excited to have some information that I have been waiting years for.  She said this info came on a research basis and it might have to be done through a lab whatever she said after I don't remember.  I think I was excited since this was coming from a blood draw that was done like 5 years ago!  I know can you believe it they have had our DNA for 5 years and finally we are getting info.... oh wait they have had our DNA since Rhett was born that has been almost 15 years.  Geez!

So I put NEK1 in Google search and found this, "Short rib-polydactyly syndrome 2A (SRPS2A): A lethal skeletal dysplasia characterized by markedly short ribs, short limbs, polydactyly, and multiple anomalies including a narrow thorax with hypoplastic lungs, extreme polysyndactyly, dysproportionate dwarfism, median cleft lip and palate, a ventriculoseptal defect and cystic kidneys. The radiographic hallmarks include shortened and horizontal ribs, squared scapulae and elevated clavicles with lateral kinking, normal spine and pelvis configuration, and shortening of the bones of all four extremities, with extreme reduction of tibial bone length.

That is GREAT!!!!  I totally inserted sarcasm there can't you tell?  Yes I wanted info but now I have more questions and really big words.  Crap!! I hate big words, and no they don't scare me I just hate them. Anyway (got off on a tangent) as I was talking to the counselor that was going over the above info I asked her if anyone else has what my boys have.  She said that she would like permission to present my boys at a conference or convention that they were going to in Tennessee coming up here soon with pictures and everything else in hopes of finding someone that has seen another child like my boys.  I told her that would be great I would just like to make contact with someone in my same shoes.  I know that I know a lot of people that have several things that are life threatening but I would love to talk to someone who is in my shoes.  I think that is because I often times talk to myself and it would be nice to hear another voice. HA HA HA....  Oh I am funny at times.  As I wipe a tear from either grief or silliness.

I often times just smile and laugh since it is easier than crying.  But there are times that my heart just hurts knowing what I know and having to just stand and watch my children suffer.  I wonder what it is like for all those other parents that lost a child at a very young age before they could voice all the pain they are going through.  My heart breaks for those parents.  I have had great joy and sorrow in the almost 15 years since I had Rhett.  I have had the blessings of hold him for a long time and exposing many children to people with disabilities since my child has one but is not treated like he is different from anyone else.  Yes just because he is small or can't breathe very well doesn't make him exempt from chores like laundry, dishes, garbage or any other chore I think my kids need to do.  If he is having a hard time breathing I make him take a breathing treatment and then make sure he is getting enough oxygen and then he gets to do chores.  I must be such a mean mom. Wah ha ha ha.... I totally inserted my evil laugh there.  But it really hard to hear your child voice that "it hurt to breathe", "it hurts right here on my side", "why is this happening to me?", and many more things.  I feel like I have no answers and it sucks because I can't ease any pain that those boys go through from this disorder.

I wanted everyone to know the news that we got.  I know I need to update on everything else but right now things are crazy between work and home that I am barely able to get some of the things done that need to be done.  I hope to update the first of April with more info since this is only the tip of the iceberg.  I will have more info the first of April.

Oh My Gosh!!!

I know it has been forever but my hard drive died and trying to get my computer up and working has been a nightmare.  I am finally back on and I am hoping that it will last.  Ok more than hoping more like praying really hard that I never have to go through that again.  It was awful!!  I have so much to catch up on and I am working really hard on it over the weekends since I am super busy during the week.  I hope everyone has a great weekend and I will post again as soon as I get the gist of everything down.