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Showing posts from August, 2015

Biopsies Done!

The kids survived the day!

Last night, I wasn't sure we were going to make it.  By the time they started round two of the cleanse, they were horribly sick and incredibly weak.  The last dose was at 9pm and they spent until 1:30am vomiting and diarrhea.  It was unbelievable.  I had decided to have the boys sleep in my bed so they would be closer to a bathroom and Shelbie slept on a mattress on the floor.  I laid on the couch, jumping up and down assisting them.  I finally fell asleep at 2am and woke up at 3:10.  Wide awake.

We arrived at 6 am.

The kids were in really good spirits and they wore the craziest outfits just to keep the moment humorous.   The boys shared a room and Shelbie was next door.

We don't really have any results.  The boys' scopes looked pretty amazing and very normal but he took several biopsies in hopes that it would hold the key to Spencer's malabsorption.   It could be that the problem is in the liver, pancreas or small bowel.  None of those are…

Surgery Prep

Today we are preparing for our big day Monday.

At 6:00 am we start a host of procedures.

It will mark our 56, 57,and 58th bone marrow biopsies. You would think that by this point we would be use to this but it never seems to get easier.  It's getting a little bit harder.  It makes sense really.  We have managed to avoid myelodysplasia, leukemia, and other clonal abnormalities that can show up.

Dyskeratosis Congenita is a telomere biology disease.  Telomeres are the ends of the chromosomes that protect it from damage and disease. As they get shorter and shorter, more and more damage happens and that typically results in cancer and organ failure. So, the shoe could drop at any time.  The older they get, the shorter the telomeres.  Just as a point a reference, the kids are all at about the 8th percentile for telomere length...that's pretty short.

But, we are moving ahead with hope and determination.

Heading in to biopsies tomorrow of the bone marrow and colon and upper GI, her…

An Outsider

One would think that as the children get older, wiser, more mature, life with a chronic illness gets easier too.

In some ways, it does but in most ways...not so much.

It's been an awful weekend.

Spencer has been planning to go to Colorado this weekend to speak at a baptism.  None of us counted on him getting sick, or having to have IV therapy so he headed out for a 36 hour road trip with his dad to give the talk and come home just in time to get therapy done on Sunday and start his prep for surgery Monday.

Shelbie is beside herself with worry about her counts.  She is also feeling the effects of the transfusion and she too has had a host of GI problems lately.

Sam is not doing much better than the other two...well, physically, he is I guess but he is in the midst of a bad depression.  It's been a very long time since I saw this kid happy.  It's only getting worse and this weekend, we sort of had it out with each other.  He is refusing to take medication and that is buggin…

Funerals for the living

Today was my grandma's funeral.  Sadly, we weren't able to make the trip back to attend.  In many ways, it made today extra hard.

As I thought about what we were missing all day long, I got to thinking...

We are raised to believe that funerals are to pay respect to the one who passed away.  When you think about it, why would they really care about the kind of funeral they have?  We think we care what kind of funeral we will have, the color of coffin, the flowers in a spray and all the other details we deliberate over.

I think, that funerals are for the living.  Funerals are for those left behind.  It's a time to reflect, remember, process and prepare your mind to move on with one less loved one. Funerals are important.  I feel strange not being able to be at my grandma's funeral to enjoy all those fond memories spoken of and say one last goodbye.

I couldn't just let this day pass without doing something special in honor of my grandma.  Something to set this day ap…

From Bad to Worse

It's so crazy how we can go from status quo to a total disaster in 48 hours!


Trying not to panic...just yet.

So...last night, I ended up having to take Spencer into the ER.  He has not been able to keep any food in him for over a week.  When I say no food...I seriously mean, no food.  He is plagued with diarrhea, nausea and, well...I will spare you the bodily details.   By Wednesday night he could hardly stand on his own.  Even Gatorade made him sick.

At the ER, he received lots of fluids and orders to get fluids every day until Monday.  I think it is helping, at least he has a little more energy.  He is losing so much fluid and nutrients and since his gut is so sensitive and cramping, even drinking water is nearly impossible.  So...IV fluids are really necessary.

Today, Shelbie had her transfusion and Spencer had his IV therapy. Transfusion was going well.

 Since all three kids are scheduled for surgery on Monday, the surgeon dropped by to get a history on Shelbie s…

It's never simple

I don't even know where to start.  The past 36 hours have been among the most intense.

We headed to Boise Monday night for GI at St. Lukes all day Tuesday.  Our GI doc completely cleared out his day so all he had to focus on was us!  It was amazing and I was so grateful to him.  I will write more tomorrow.

It took so long to get everything done medically.

When we were finally through, we ran to the mall to get some back to school clothes for Sam.  He started school today.  Shelbie and I went one direction in H & M and the boys went another to find what they needed.

Shelbie and I were in one of the tight aisles...with Shelbie in a wheelchair because she has been having more heart problems and breathing issues so it was crammed.  There was a girl about Shelbie's age in the same aisle.  She was pretty intent on looking through the rack so I started to back out of the aisle.  Just as I did...this girl started contorting herself and speaking gibberish!  As I tried to figure o…

Fidgeting and Fretting

Today has been pretty monumental.

First, the back story.

I have mentioned here a time or two how stuck we have been in getting medical care.  I see all the other DC families with lung, heart and bone marrow problems being proactive and getting all sorts of care and treatment and then we sit here, just twiddling our thumbs hoping that it will all just disappear.

Losing our Hematologist in Seattle seemed to precipitate many other changes.  We have outgrown all of our doctors simply because the kids got older.  Not only that, we haven't been happy with a couple of our doctors.  With the DC diagnosis, they seem out of their league.

With Spencer coming home, we need to get all the DC genetics done and get the same baseline tests that Sam and Shelbie had but now we don't have decent doctors.  I've been praying to find some direction; to figure out where to take them for medical care.

We had options but certainly didn't feel like any of the options were a good fit.

For the v…

Better than this?

Do you ever sit in the middle of a day and think..."Wow, it doesn't get any better than this."

It's hard to imagine that in a world with so many opportunities to be scared, tired, worried, fearful and in pain, there would be moments that you wanted to freeze in time, when you could actually stand apart from the surface and wonder if life could really get any better.

This morning, Spencer and I spent 2 1/2 hours at the temple doing some sealing work with some friends.  I thought it would only be about an hour which would have worked out fine because I had to clean a house, but it took much longer.  I just couldn't stand the thought of leaving such a peaceful, happy place where families were being joined for eternity.

We left though and I got to my house to clean a full hour late.  When I arrived, the house was in chaos.  The elderly man, who is on Hospice, had become disoriented in the night and flooded the bathroom.  His dear sweet wife didn't hear because s…

Out of the blue

Yesterday, I received in the mail, quite by surprise...

This book.

Diagnosis and management guidelines for Dyskeratosis Congenita.

I didn't order it.  I didn't even know such a book existed.

It is no less than 438 pages of information regarding the disease my kids have.  There is not another book of it's kind.  It was written by 40 of the top researchers and providers of care for DC kids/patients.  It is complete with references to studies and articles.

It's pretty amazing.  I am seriously amazed.   In awe.  Overwhelmed in fact!   This is worth it's weight in gold!  I can't even imagine the work it took to get this compiled.  It takes a lot for me to be moved like this.

It was out of the blue.

The other thing that came quite by surprise was a phone call from our GI doc in Boise.  Just a few minutes ago, his nurse called and said that Dr. T has cleared out an entire day for us to bring the kids next week!  Next week!  He's going to see my kids!  I'm s…

Life Goes On

I heard this all familiar saying today...Life goes on.

It is a statement of truth.  Life goes on no matter what you happen to be going through, have gone through or will go through.

I remember so clearly, the day we walked out of the Oncology office just over a year ago, after getting blood drawn on Shelbie and Sam to send off for confirmation of Dyskeratosis Congenita.   The nurse had inadvertently handed me the wrong paperwork and I saw the diagnosis from the research lab. Something that legally, I was not suppose to see.

As I pushed through the front doors, the mid-day sun magnified a glaring reality on the world around me.  I was facing what felt like the worst news we had ever received and my world was cloudy yet everyone around me, seemed to be enjoying their world in the sun; even the people coming out from a chemotherapy treatment seemed more at ease with life than I was in that moment.

I remember looking down the street to line of kids waiting for ice cream at the new food t…

Missing Pieces

I've been trying to get appointments for the kids set up but it's not easy.

Having to start over with all new doctors has been daunting.  I don't even know where to start looking for new ones.

I've been really bothered with the whole hematology situation. The more time I spend in the Dyskeratosis group and reading about the disease, the more confused I am.  We are one of the very few families who has not been to transplant yet.  In fact, one family is starting transplant very soon and their child actually has better counts than any of my kids!  I am continually told that it's better to transplant while they are healthy.  Once the lung problems start, it's too late to transplant.

We have never been told any of this. I feel like we don't have anyone looking at the big picture. Now without our top Hematologist and GI doc, we are even more lost.

I'm hoping I figure something out soon.  We could go to Seattle and meet with the new doctor Dr. Shimamura sugge…

My Birthday Girl

Another birthday for my girl!

Shelbie turned 23 yesterday!

I look at her and I don't even know how we arrived here so fast!  In  many ways, I remember so clearly each stage of her life.  It's a cool thing to look back and see how each moment was a defining one.  For good or for made her the wonderful young woman she is today.

Shelbie likes people to think she is aloof and maybe even jaded but in reality, she is the most tender hearted person I know.  She is sweet and has an intense desire to not miss out on anything in life.  She has talent galore but doesn't always see the gifts that she offers the world around her as anything special.  I guess in a way, that keeps her humble.

As I think about Shelbie, there is so much to love but the thing I love the most about her, is the way she lives her life.  She is genuine and tenacious.  Okay...two things!

She doesn't stand for fake people, selfish people or people too consumed with 'life' to care about other…

Back at it

I never realized that missing a week on my blog is like missing a part of myself.

I think we have bobbed back up to the surface of our somewhat stormy life and we are ready to find our new normal for a few weeks.

Spencer is doing so much better the last day or so.  Monday, almost felt like he was never gone.  The three kids together are having a great time.  Last night, as we all sat down for dinner and everyone was laughing and joking around, my heart was so full to see all the ways I have been blessed as a mother.  I might even say this stage of life is my favorite...

Not the part where they all leave me...but the part where they are all mature and can enjoy each other as best friends instead of siblings who had their moments of bickering and teasing.  It's amazing to see that they have all turned out pretty good so far.  They have learned to make the best of things and the most of a day.

Monday, I had a few minutes to get focused on what we need to do to get Spencer feeling be…

A Scary Story

When I die and meet God, I am going to ask him one thing...

I would love for him to explain why he gave me all the rare, never before seen problems in the world?  We don't get your run of the mill trials...

Tuesday, when we were contemplating a trip to Salt Lake, I had this uneasy feeling about my car.  For one thing, the front tires are bald and second of all, there have been some odd problems with my tail lights.  They go out all the time.

After a little research months ago, I found out that this is a problem with Hyundais and when I called, they didn't have a way to fix it.  The weird thing is, the brake light problem is associated to a problem with the cruise control and affects the way that works.  I know this because I had both brake lights burn out and my cruise control stopped working.

Tuesday, I had this feeling that this whole issue was going to be a problem.  I ignored that but decided to at least have my tires rotated so better tires were on the front.  With the t…

Settling In

Spencer's been home a week!  It's been quite the busy week.

All in all, he is starting to settle in better than the first few days.  I was pretty surprised at how hard it was to have him home.  He felt awkward to be 'in the world' again and none of us really knew how to act.  I think we were all trying to pretend none of us were living in the world either; we tried to shelter him from our usual, hectic life.  He was really homesick for Colorado too.  It was almost as if he was sad.  His face, his actions, everything just seemed sad.

I wanted to fix it.  Then I thought maybe it was me making him sad.  It was just hard.  Nothing at all like I had expected.

I wasn't sure how we were going to tell him about all the things that happened over the past two years, especially about his 'new' disease, Dyskeratosis Congenita.  Thankfully, it didn't end up being as big a deal as it was in my head.

On Thursday morning, his dad came over and we were planning the day…

Welcome Home Spencer!

It's been a whirlwind of a week!

My missionary returned home safely on Wednesday night.  It was an amazing experience.  I have to admit, I was pretty emotional all day.  In two years, I have never shed a tear over Spencer being gone and Wednesday, my thoughts were filled with tender memories of Spencer's life and everything we have been through.  I figured I deserved to cry now!

Remember how I said I had hired a photographer?  The best decision of my life!  I'm so glad I did.  She was amazing.  It was so nice to not have tell people to stand still, smile, pose...she just snapped away, all candid shots.  She posted this awesome one of us walking out of the airport!  I love it!!  I adore it!! I could look at all day long!

It's a picture of joy!  Complete happiness and the whole point to life...Family.  I even love that my ex husband and his little girl are in the picture.  We have worked really hard to continue to have a good relationship for the sake of our kids and ea…