Tuesday, December 31, 2013

Goodbye 2013!

This is a big day for me!!  Said goodbye to my other blog...Nuttin Wise!  Now all the fun will happen HERE, on this blog!

This is also...

The day this no good, very bad year ends!  I should look back on it with fond memories but mostly, I'm saying....get me the &#*@ outta here!!

Okay, okay...some really good things happened...Spencer is happy serving a mission for the Church of Jesus Christ of Latter Day Saints.  He is so happy!! And, while I miss him terribly...I couldn't be happier!  Sam has grown leaps and bounds and become a really sweet boy that is so helpful and protective of Shelbie and I.  Shelbie is finding herself.  She has been challenged, spread her wings a little more, found some friends who aren't too bad and all that is good!

Let's see...what else good happened this year?  Hmmmm.....thinking.....thinking....give me a second.....

Anyways.  It's been quite the year!

Seriously, we have been blessed in spite of the trials and difficulties.  God has definitely been leading us along and for that...I can't complain!!  I know there is no other way to grow.

I have learned some lessons in 2013:


  1. I have learned that when people tell you that you really need to stand your ground, set boundaries, don't be a door mat, say what you feel and mean what you say, share your opinion... they really mean...do all that with everyone else but them!  They don't appreciate it when you make the effort to be a little more, shall we say, proactive?  But, I am learning not to apologize for my feelings, my opinions, my boundaries even if I have lost a few friends this year because of my thoughts on politics, healthcare, education, parenting, this country, my country...the list goes on and so does life, with or without them!
  2. I have learned a lot about the kind of people I want in my life, the kind that stress me out, the kind who energize me, the kind who help me and the kind who...I'm not sure why they are there. 
  3. I have learned that a 15 year old can really turn me into a redneck! Don't ask.. it's a long story, lesson learned. Even the guy at the dump was embarrassed for me when I drove up to get rid of this 100 lb thing I wrestled to the top of Shelbie's car...all alone!!! Arrghhh.... #Ineedtostophelping15yearoldboys withbigdreams!
  4. I have learned that I am stronger than I thought I could ever be...(because I lift 100 lb gym mats...just kidding)
  5. I have learned that life is going to hand you lemons and chances are you won't have any sugar to make that darn lemonade so just enjoy the lemons!  What else are you going to do?
  6. I have learned that 44 years can feel an awful lot like 96 and stress can really bugger up your life span.  Surprising.
  7. I have learned that my kids are sometimes a whole lot smarter than me!
  8. I have learned that there can be peace in the midst of chaos and joy can be found in the strangest places like the recovery room at the hospital. 
  9. I have learned that life is pretty exciting and I actually DO like roller coasters...when they are at Disney World!  ;)
  10. I have learned that God is in the details!  The Savior is watching...not far off.  With a little faith, I can move mountains and the Breath of Heaven is like CPR for my soul when my spirit feels dead inside!
So, there's the wrap up for 2013!  

NOW....2014!  I use to say..."It can't get any worse?"  BUT....it can!  So now I am trading that adage for this one...."Buckle up and wear a crash helmet!"  Yes, you can quote me!  I'm just being realistic.  And, here is my little mascot for 2014!  Isn't she cute!  I love that she's a little beat up, stitched up...but still smiling!  That's what we intend to do through the bumps and bungles of next year! 
(image source: madebyhandonline.com)
So...Happy New Year!  I hope you will stick around and see how this story unfolds... We are starting a really cool tradition next week...come back and find out what it is!!!  I bet you've never heard of it before!



Photobucket

Sunday, December 29, 2013

Reading my mind

Sometimes, I feel like I am the only one in the world whose tired of disease and problems.  Who feels happy one minute and sad the very same minute.  Who is tired and angry but blessed and hopeful...yes, at the same moment.  I love the letter this mom wrote to other mom's like me...She read my mind but her writing is beautiful and simply stated.

http://amomentcherished.blogspot.com/2013/10/dear-special-needs-mom.html#.UsEEjPRDuSo

If you have a minute, it's worth the read.
Photobucket

Saturday, December 28, 2013

Spencer

I have had a few inquiries about if I was able to talk to Spencer on Christmas day.  Yes, I was.

Is it okay if I admit that I would have been okay to not talk to him?  I just wasn't sure how I would keep it together and he doesn't like it when I cry!  He had told me he was just going to call, not Skype but then, he ended up Skyping!!

Gosh, to see his face, hear his voice...I lost it for about 10 seconds until he said, "Awwww, mom, don't cry.  I'm so good!"  I pulled it together.

I wasn't going to tell Spencer about the genetic news.  My plan all along was to only tell him if the Doctors in Seattle needed him to do tests and stuff.  I can't imagine anything worse than receiving difficult news in a letter and have to wait a week to ask questions, then another week to get answers.  That sounds horrible and I didn't want to do that to him.

I didn't want to tell him over the phone because I couldn't see his face.  He is brilliant like me...He can hide a thousand sorrows behind a cheerful voice.  But Skype!  Darn that Skype!  I knew I had to tell him.  I could see his reaction, hear his thoughts, answer his questions but dang....Christmas?  Ruin Christmas with this?

This disease makes me so mad!!  I can't just have one happy moment with my kids.  I just wanted to focus on him, on the blessings of missionary service but it wasn't meant to be.  He's not a kid anymore and asking him in 3 months for extensive testing, he's going to wonder, put the timing together and possibly be angry I kept this secret from him.

I did all I could to keep positive; saying things like, "It's basically just a name change, it's not going to change what your life looks like today." , "There's nothing to worry about, really.  I'm not worried.", "Sam will do all the testing so hopefully you won't have to...he's taking one for the team."  "Isn't this great news?"

Sheesh...if that wasn't hard!!  I felt like I had the phoniest smile pasted to my face.  I felt the way the Joker looks!  Creepy thought.

Spencer was stunned but he didn't seem upset.  He just said, "I can't believe it!" but then, he said, "Does this mean they will be able to fix me?"

Lump in throat..."What do you mean?"
"Mom, I've been sick every single day since I got out here.  Every single day.  I just keep going but it's hard to keep food down.  Some days are better than others."

He doesn't take his enzymes for his Pancreas at dinner because he is embarrassed and it makes everyone feel awkward so that might be part of the problem but sadly, I'm just not sure the new disease name is really going to have any fixes.  Maybe I'm wrong.  I don't want to sound negative but I'm also trying to be realistic.

The one blessing I can appreciate is that Spencer has been blessed with the gift of faith, gift of humor and the gift to just keep on going!  He is so positive and he isn't afraid to work hard regardless of how he feels.  I really admire that about him!  I am feeling blessed and wish that the resentment and anger I feel towards this disease would stop trying to rear it's ugly head.

Photobucket

Thursday, December 26, 2013

Stress...

The very word alone, sounds an awful lot like 158/95...

Rising blood pressure.

It's an ugly word.  It sounds dissonant, disturbing and incompatible- not to mention, unrelenting!

I had to go to the doctor to get my cardiology tests back today...fun times...they had not been read by this afternoon so...I wait some more.  And, waiting isn't stressful at all.

My blood pressure is still high!!! Not cardiac arrest high but the highest side of normal. And, that isn't stressful at all.

My doctor said, "Kathy, you have to get rid of some stress in your life.  You have too much going on, something's gotta give."

I wouldn't have to work another day in my life if I had a dollar for every time someone told me this. And then, maybe life wouldn't be stressful...at...all, however, last time I checked, dollars aren't attached to well-intended advice.

So, I ask...How do you get rid of stress?

Is eliminating stress sitting around napping?  Doing nothing? Shopping? Eating? What?  Cause I've tried that this week with the kids being gone.  I've tried all of that and apparently, that isn't the answer.  The stress is still there, you are just ignoring it.

So, then I tried, sitting in the hot tub. Three nights in a row.  Nope.

Meditating.  Nope.

Getting Creative. Nope.

So, I don't know.  I don't have the answers.

I wish there was a recipe or something.  Certain steps to take, ingredients to mix, minutes to bake and VOILA!!!  No stress.  But apparently, there isn't.

I asked the doctor, "Tell me how to eliminate or manage stress?  Quit some jobs?  Then we don't eat and I lose our house.  Sell my kids?  Dumb question.  Solve the mysteries of the Universe?  I'm working on that!  Go out and find a rich old man to take care of us?  I'm working on that!! (Just kidding! Really!) Hire a maid? I am one. Hire a cook? Pointless, no one eats around here.  I know...Go to Hawaii?"

At this point, I'm trying to keep from crying, he's trying to keep from crying so we both laugh awkwardly.  He gets my point.  He's a nice guy.  Still, there are no easy answers.

If stress could just decide to be black...or white.... or concrete.  That would be much easier!  I'm not a mind reader.  I don't know what will make stress happy!  Apparently, it hasn't enjoyed all the wonderful things I've done for him this week to keep him content.

So, I tossed my hands in the air and took on two more jobs today!  If stress is about to kill me, I may as well go out with a bang!

Photobucket

Tuesday, December 24, 2013

Ahh...you win some, you lose some

Can you tell I have a lot of time on my hands?  So much writing, so many thoughts rolling around in my head and I am in Heaven!  Nothing makes me happier than writing!

Anyways...today is Christmas Eve.  Tonight really.  Here I sit at the computer.  It's always a time to reflect on much!  The Saviour, the blessings, the trials, everything!  Earlier today, I was thinking what a treasure it was to have a day without sickness, drama, doctors, hospitals...I was relishing in the peace! Not even 5 minutes after that thought...I heard screaming!

They weren't screams of joy and excitement like...Santa's coming!  It was screams of pain!  I went running downstairs to find Shelbie on the floor crying in pain.  Her knee was locked and she could not move!  I tried everything I could to get that leg straightened; massage, manipulating it.  Finally, Sam and I dragged her to the couch and got her up at least on a more comfortable surface.  I got her some ice, a brace and offered her some Advil for the pain.

This has happened so much lately thanks to the connective tissue disorder, hypermobility and mitochondrial disease ruining her joints!  Those darn cartilage blisters catch on the muscles and tendons and dislocate her knee cap.  Usually, it just takes a few minutes and it releases and things get better.  That wasn't happening today.

At some point, her new 'boy' friend called and he could tell she was in pain and asked what was wrong.  She explained what had happened and he asked if I was taking her to the hospital. She said, "No"  Next thing I know, she hands me the phone.
This kid starts telling me why I need to take her to the ER and how leaving her in pain is mean and if I'm not going to take her then he would.  WOW!!!  I tried to explain that the hospital would do her no good.  We are waiting to see a specialist but because of the holidays, we have to wait a couple of weeks!

After I got him calmed down and understanding the situation more, I decided to take her in to the our doctor and maybe he could tape her knee in place.  They were closed.  Our Physical Therapist was closed, everyone I thought could help was closed since it is Christmas Eve.  Finally, I decided on the urgent care.  Bad idea!  

This is what the doc there said to me..."Why would you think that you can bring someone here with multiple genetic problems and complex issues and expect to be treated? I can't do anything for her.  You need someone to manage these problems and you need a pain doctor, not an urgent care on Christmas Eve!"

"We are waiting to see a specialist, we have a plan in place but things just got worse today. I was just hoping you could get her knee cap back in place from where it has shifted to and tape it so she can walk.  That's all, just to get us by."
Flat out...this guys says "NO".  He wrote a prescription for pain pills, that's it.  I didn't want pain pills, I didn't even go pick up the stupid prescription!  Instead, I bought crutches because I don't know what else to do for her!  This stupid, stupid disease!  I hate it.  I especially hate a Christmas Grinch!

It was a real let down after a couple of really positive doctor appointments!

Photobucket

Monday, December 23, 2013

Timing is everything

Today, Sam had his appointment with the Ophthalmologist.  It was weird how this appointment came to be.

About 3 weeks ago, Dr. Fullmer's secretary called me to say that Dr. Fullmer wanted to see Sam.  She called at a really busy time and I was sort of caught off guard by it all but then thought I had just heard her wrong and went ahead and scheduled the appointment for him since it has been over a year anyways since we saw him last and Sam's eyes have been having more issues with the vision loss.   I still didn't recall ever being on a 'schedule' with ophthalmology like we are with Oncology and GI as far as quarterly visits go.

So, today we go in and every minute was a surprise!

We discovered a couple of years ago, during some mitochondrial testing that the kids have a genetic defect called LHON.  It stands for Leibers Hereditary Optic Neuropathy.  The gene causes total blindness.  Blurred vision begins and within 2 weeks, the vision is completely gone, never to return.  Ever.  It's pretty serious.  The Neurologist said that there are two LHON genes.  If a person has both genes, then it is almost certain they will go blind by age 20.  With one gene, researchers aren't sure if blindness is certain.

It was after we found this gene, that we met with Dr. Fullmer to  make sure that the kids had healthy optic nerves.

Today, he said, "Thank you for coming in!  I have good news.  They just began gene therapy on LHON.  I need to know what gene your kids have because if it is the one they are doing therapy on, your kids will be eligible!"

I almost fell out of my chair!

I have a pretty good idea what disease my boys are going to end up with.  I have it narrowed down to two.  One of them has the LHON gene as part of the disease which totally ties in the clinical mito stuff for us! There is a chance I'm wrong of course but this news seemed very significant.  He said, "I find it so strange that the research and treatment for LHON's has totally exploded in the past 6 months.  Seems so out of the blue."

As he went on with his exam, he found a scar on Sam's retina.  Sam had inflammed eyes about 3 months ago and it lasted for about 4 weeks.  I didn't take him in because there was no drainage or discharge.  He is afraid that he had Uveitis, an autoimmune condition that scarred his retina. After he talked about the condition, I believe he is right, especially considering Sam has been really neutropenic this year and that was his concern as well.  He was so nice, he assured me that no matter how minor I think eye issues might be in the kids, he wants me to check in with him.

Before we left, he had his nurse take some pictures of Sam's retina.  The pictures made the scar look more like some odd pigmentation.  We will just keep track of these changes.  They are definitely new since last year so it's interesting.

I feel very confident that we are in good hands with this doctor.  He is so good to research and be part of our team. I really like him.  Maybe we will never need gene therapy for LHON.  Maybe it was all a coincidence but regardless, I know it was another instance that God was letting me know He's watching our back.

Photobucket

Sunday, December 22, 2013

What next?

Thankfully I survived the weekend!  I had three more episodes with my heart; not as severe but definitely uncomfortable.  I went back to the hospital at noon to get the monitor off and back to respiratory therapy.  They claim that they will have it read by the cardiologist tomorrow but I'm not going to hold my breath.  I don't think many people are working this week or will at least have limited hours.

The more I think about it all, the more I wonder if it doesn't have something to do with the phlebitis I have been dealing with since September.  Late this afternoon, my ankle started acting up and it was so painful to walk, again!! Now the pain is all the way up my leg and so uncomfortable.  I guess I'm just falling apart!  I wish someone could figure out all these strange things happening to me.  I guess it could all be stress but that is such a hard diagnosis to wrap my head around.

Saturday night, I got a whopping 1.5 hours of sleep!  Bentley, the dog tore open a gift that was under the tree and it happened to be a 2 lb box of chocolates.  He ate the entire thing in the less than 10 minutes! Bentley is a little shi tzu so that can be a pretty serious thing.  Let's just say, he was sicker than a dog all through the night.  I was letting him out about every 15 minutes for about 4 hours straight and when he wasn't outside, he was pacing the floor whining!  By about 4am, I was so angry with him!  I didn't care if he survived death by chocolate or not!

He survived.  Today he is hyper and rotten to the core.  Needless to say, my patience is frayed and he's getting on my last nerve!

This week...I am hoping we get this genetic testing underway!  It seems like important things always happen around a holiday and everything gets delayed.  The longer we wait to start testing, the longer it will be before we get answers.

I pretty much have my mind made up of what disease we will be dealing with and that makes this whole process even worse because honestly, it is worse than SDS.  The suspense is hard.

In the meantime, there will be no shortage of appointments this week.  Sam has to see an Ophthalmologist tomorrow.  He continues to lose his vision and it is happening more frequently.  Shelbie will get her knees taped and hip work done and sometime in between it all, they will celebrate Christmas and try to relax with their dad.

Looking forward to talking to Spencer on Wednesday.  That is pretty much the only thing keeping me going at this point!  I miss that boy so much!

Photobucket

Friday, December 20, 2013

Rhythm and Blues

Last night, I was not expecting to end up in the emergency room...with myself!

Sheesh!  It was a bit dramatic to say the least.



I work nights now so I headed to work about 6:30.  The kids were all headed out to their evening activities.  Work was pretty much uneventful at the clinic where I worked; cleaning toilets, mopping up smushed cheerios from the reception floor and other manner of evil I dared not guess what it was.  Vomit?  Smoothie juice?  Mysterious.

I was back in the reception area vacuuming and all of a sudden, something caught my breath. It happens rarely and it usually makes me cough a couple of times and then everything is fine.  I coughed but I could still not catch my breath. I could feel my heart racing and by racing, I mean, it was zipping along!

I was a little worried but I stopped vacuuming and walked around trying to take deep breaths and think of warm, sandy, Caribbean beaches.  I tried to shake out the tension in my neck but my chest was tightening up.  I did this for about 10 minutes.  Knowing things have been a little stressful the past few weeks and months, I just figured it was my nerves.

It wasn't long after that 10 min frame that the symptoms changed, my heart wasn't just racing but I started getting dizzy, lightheaded, hard to breath, tightness but my heart was banging against my ribs.  I could feel it getting heavy and pounding in every inch of my body.  We've all seen a beating heart on medical shows or something and I was trying to picture that gentle, rolling beat of a heart but all I could see was my heart literally banging against my ribs. I looked down and even my t-shirt was moving with the pounding.

I thought, Should I call 911?  Is this just stress?  Am I having a heart attack? Do I call someone?  Should I drive myself to the hospital?  By this time, I was clutching the edge of the counter because I knew if I went down, I wouldn't be found until hours later and at this point, I'm starting to panic.

Of course, being the responsible decision maker I am.  I considered the time and cost it would take to call an ambulance and I was literally 1 block from the hospital, the fire station was at least 7 blocks from me.  I stumbled to find my keys and then to the front door.  I realized I was locked in!  I had to stumble back through the building trying to find the front door key!  I don't even remember where they were or how I drove.  I remember falling out of my car at the hospital, barely able to get across the parking lot, contemplating crawling, and thinking...I am going to die in the parking lot!

I stumbled into the front doors of the ER and the girls at the front desk were the ones always there when I have to take Shelbie in so they recognized me and saw that I was in trouble. I was grabbing my chest and out of breath.  "Omg...Kathy!  The nurse is coming!"  I schlumped over the the desk, "I...can't....breathe!" was all I could get out.  I was so glad in that moment that everyone in the ER department remembered me!  Even the Sheriff deputy seemed alarmed.  I was trying to be 'cool' and undramatic but I didn't think I was going to make it.  Surprisingly, I was not crying and did not cry the whole time.  I did not know the nurse who came for me but she said, "What department are you from?"
"don't........work......here....."

They were fast!  I couldn't get my shirt off and those monitors on me fast enough.  My heart rate was 143 and my blood pressure was 158/95.  I was not in good shape. My resting heart rate sits at about 65.  As I laid there, I still tried to picture my heart slowing down. I tried to take deep, calming breaths but I couldn't get this situation turned around. I just laid there while Respiratory Therapy started an EKG, Nurses were monitoring, starting IV's, blowing veins, the doctor was talking and people were standing around...It was crazy and there I was, kind of floating above watching all this drama unfold and trying to figure out how this happened, yet freakishly calm.

As things calmed down and my heart rate began to drop slowly and my blood pressure came down, I was overcome with the blues.  I hate those moments when I realize that I am alone.  Not just lonely, but alone. It was the saddest moment.  I would hate to die alone.  I don't want to go through life alone.

The doctor came in after some tests started coming back and asked where my husband was.  "I don't have a husband."
"Can we call your parents?  You have kids right? I think I have treated your kids?"
"I have kids, they are busy.  It's okay."  I hate it when I have to rely on my kids to help me.  They have enough stress and don't need my problems on top of their own.

My potassium is low but not likely the cause of last night's event. I am definitely having some rhythm problems but the source is unknown.  Of course, he had to ask about my stress level.
"Just the usual" I said with a smirk. "Ya know, unemployment, underemployment, single mother, chronic illness, health problems, debt. Nothing I can't handle though."
I don't think he knew what to say, "So, we aren't talking Christmas stress because we see a lot of chest pain during the holidays because women try to do too much."
"Nope, I could care less about sugar cookies and shopping."

Now, I have to wear a stupid monitor until SUNDAY!  I can't shower until then!  Ugh.  The thing I can't figure out is how stress does this, if it is stress, which I believe it is since I passed my Echo-cardiogram with flying colors basically.  Yesterday was even a pretty quiet day and I wasn't feeling particularly overwhelmed or worried. Tired but I'm always tired.

Last night, even when I finally got home at 10:30, my heart was still not right. I had a hard time sleeping with all these wires and the residual pain.  I finally got my brain music.

A few years ago, I got into this research on how everything in the Universe, including our bodies, have a natural rhythm to them.  Part of the research was music therapy and how your brainwaves, heart rate and respiration rate and blood pressure can all be manipulated with music.  Your heart will take on the beat of the music you are listening to as well as your respiration rate etc.  I have a collection of music that I use to manipulate these rhythms.  I have music I can use when I need to be creative, music when I need to wake up, music when I need to calm down and music when I need to sleep. It really works along with guided imagery.  I use it whenever my kids are in the hospital to keep them calm.

I knew if I could get my brainwaves down into the delta wave range, my heart would relax.  It took me until about 2:30 am before I felt like the weights were gone from my chest, and the pain subsided and I fell asleep for a couple of hours anyways.  Maybe I will write more on music therapy, later.

Today, I am just feeling worn out and a little frustrated that I just can't handle things better.  I have tried so hard to be positive, hopeful, happy and to help others and forget about our own problems...I don't know how else to deal with the stress than laughing and we've been laughing a lot!

So, I guess today is going to be about keeping my heart rhythm in check and stay out of the blues area because feeling sorry for myself at this point is not going to be helpful.


Photobucket

Wednesday, December 18, 2013

Hard Places...Holy Places

I can't believe we don't even a have week under our belt yet from getting the life changing news about the gene!  It seriously feels like 8 weeks should already be over!

One week ago, it felt like Christmas, the air was infused with that Christmasy feeling.  One of the many versions of 12 days of Christmas seemed to play in a continuous loop wherever I went.  That, fluttery, excited feeling was settling in.  Packages had been sent, a package arrived. Shopping was done and I was determined to settle in and enjoy the sights and sounds of the season.

Nearly a week later, I am in a different place.  I don't recall hearing any Christmas music for days though I know the station on the radio is still set in my car.  I don't smell the fragrance of cinnamon and pine.  I don't feel excited like I did.  The Christmas lights seem to have lost their sparkle. I did some baking on Sunday but it was merely going through the motions; a task to be done.

I feel numb and extremely exhausted.  Not only that, I can't remember a single thing I did even 3 hours ago. My attention span can be compared to that of a goldfish.  I have a list a mile long of work I need to do for some clients and I can not for the life of me, figure out how to get it done or even what I'm doing or where to start.  Now I can see, it's a very good thing I got laid off from designing homes!

Though I am not as emotional as I have been, things are still hard. I am still trying to get my mind around this so I can write more about what this really feels like.

At any rate, I am remembering that trials like this are a very Holy place.  Maybe the numbness I am feeling is a good thing because I am less worried and fearful and more in tune with the timing and orchestration of God.

As I look back on the last 6 months, I can see how God has been preparing my mind through research I have been doing.  He brought to me a new friend.  I don't even remember the circumstances around how we connected but it's like she has always been there.  She is from California and we are very like minded and each have three kids who are also similar in nature and symptoms.  There is no doubt that God brought us together, perhaps the reason has yet to be realized but she is a blessing to me.

I have been given a little extra help to keep the kids distracted and somewhat happy.  From out of the blue, a group of friends have welcomed Shelbie in and all of a sudden, she has people besides me who care about her. That has been a huge blessing and timing of it all perfect!

The biggest news is the partnership with our local hospital and University of Utah Medical Center.  I knew when I heard this yesterday that it was epic.  This morning, even before I got Shelbie settled in her room, I ran into the CEO and another Administrator.  They don't know me well but I was not afraid to ask them if this was really a big deal or just a play on words since most of the people in this area go to Utah for care anyways.

They told me that this huge.  It means that they will be sending specialists of all varieties up here to spend two or three days a month.  They will bring technology and better training for the nurses.  Our hospital will have access to cutting edge research and information.

I have only had these overwhelming confirmations a handful of times in my life when I could almost, literally see the hand of god orchestrating something for us and this is one of those times.  The timing is amazing!  I am seriously confounded at the goodness and mercy of God.  One thing our doctor from Seattle asked was what kind of resources we had here to support us.  "None", I told her.  We really don't have resources here.

There are so many more blessings, so numerous to mention and some very dear to my heart.  It is an amazing, unique and overwhelming feeling to see God moving things and people into place, like He's getting ready for a really big event.  I know that it will be big and it will probably be scary and sad but I need to remember that he is doing all this for our safety, our happiness and our joy.

We still haven't been able to start the testing on Sam.  I understood it was suppose to start last Friday but our doctor is still waiting on a couple more pieces of information from Seattle before we can start.  Part of me wants to keep bugging them with emails but the bigger part is sitting back and trying to believe that there are big things happening behind the scenes and God just needs a little more time to get things in place for when the results come back.  So, I am waiting patiently.

It's all very interesting to say the least.  I wish I could find words to better describe the workings of Heaven that I am seeing.  For that, I am grateful to be going through this.  It's not something everyone gets to experience; that certain relationship and love I feel from Heaven.  I feel blessed.


Photobucket

Tuesday, December 17, 2013

A Veritable Buffet

Holy Smokes what a day!

This whole deal is a like an all you can feel buffet!  Not even kidding.  One minute, we feel just normal, then the next serving is overwhelm, then panic, a sprinkling of joy here and there and the whole course is wrapped up with a big plate of intrigue!  And then....there's the crazy stuff that just never ends!  And then, there is the fact that my brain is completely, totally fried.

Today, Shelbie had to spend the afternoon at Mountain View Hospital in the city at Ortho clinic.  Before we headed down, we had to stop at the  hospital here to pick up her MRI stuff from two weeks ago on her knees.  The front doors were locked and staff was directing hospital visitors through the emergency entrance.  There was a press conference going on announcing that our local county hospital would be partnering with University of Utah Hospital to bring more specialists to our town!

As soon as I heard this, I knew without a doubt that God is moving people and resources into place for us and preparing things as we transition from SDS to the new disease.  The feeling was so overwhelming, I actually began to tremble!  I'm not exactly sure how it will impact us but I know that this is huge and significant news for us and that God's hand is in the details.

After we got back in the car from picking up the MRI report, I had Shelbie read it to me while I drove.  If you remember, the nurse had said a couple of weeks ago that there was unspecified cartilage issues in her knee.  In fact, it's not unspecified, she has blistering in her cartilage among other significant problems.  They named two different abnormalities that I have never heard of in my life!  I was fuming mad that the nurses told me it was no big deal and the orthopedic doc would just clarify things for us.

I was so angry about the misinformation I had been given but it also hit me that for the first time in my life with chronic illness and my kids, I went to a specialist's appointment without any past history, records, research, notes, questions...nothing!! Now, I have 30 minutes, while driving to educate myself on cartilage issues, blistering cartilage and anatomy of the knee and all the strange vocabulary in the report so I could be educated and figure out how it all ties in with connective tissues disorder, hypermobility, mitochondrial, and SDS!  I was so angry!!  Shelbie was angry and crying that she too had felt misled.

We arrived a few minutes early and I literally crammed some articles in my brain I could pull up on the phone with the very slow wifi I was dealing with.

We got into a room and kept cramming until I realized that Shelbie was falling apart.  I put the phone away and tried to talk her down from the edge.  We can usually turn bad situations into something funny but she was a tough crowd today!  After about an hour and a half, even the nurse said, "I'm not going to let you out of here until I see a smile out of you."

 There comes a point in the chaos that I have to be the one to keep everyone together no matter how I am feeling.  I can't be the one falling apart and stressed, at least not in front of the kids, so, every time the doctor stepped out of the room, I grabbed a plastic body part from their basket of body parts and made a joke.

"I sometimes put my FOOT in my mouth!"

"Shelbie, I've gotta HAND it to you!"

"I'm way too HIP for you Shelbie!"
Finally, I cracked her tough shell and she had a little fun of her own! 
"Doctor, I think I have a problem with my foot"
The funniest part was that when he stepped out, we scrambled to grab a body part.  We didn't know how much time we had and we didn't want to get caught goofing around!  It was classic us!  

I love this Ortho doc.  He has put my rotator cuff back together twice, my knee, Spencer's ankle, Sam's knee and now Shelbie.  

Anyways...on to Shelbie's news.  She has a multitude of problems!! Holy cow!  We went in there for a knee problem but he found hip problems, ankle problems and both knees have problems as well as her SI Joint. 

 He has 4 patients with Ehlers Danlos Syndrome and he said her examination seems very much like his EDS patients.  Her ligaments and tendons are extremely lax and stretch too far but her muscles are abnormally tight and unusually big so they pull her joints all out of alignment.  It's going to be very difficult to treat.  He also found that her ligament that comes down from the patella, knee cap, is  15 degrees off.  This is a birth defect and causing some of her problems too.  And YES, she has blistering in her cartilage and very small tears just barely starting to form.  He said it is pretty important that we fix this sooner than later. 

We are going to try some specialized treatments with a physical therapist and she will have to have her knees taped in place for a few weeks. There are only two Physical Therapists in the area that can do this special treatment on her Sacroiliac Joint.  If that helps her feel better, then we will have to have special braces made for her.  At some point, maybe next year, she will likely need surgery to move the defective ligaments to where they are suppose to be; lined up with her knee cap. 

He also found that she has Achilles Tendon problems and Bursitis in both hips!! No wonder this girl is always in pain!  Sheesh! 

When we left several hours later, I said, "Well, I think it's official, welcome to the team!  The elite team of docs we have trying to make sense of this genetic mess! We will probably be regulars here now."  

He laughed and asked how Sam was doing with his abnormal ACL?  I told him Sam's history this year and he gave me some exercises for Sam to do.  Since Sam also has Hypermobility problems the Doctor gave me some advice to protect his joints. 

 Then he said, "Considering your kids' conditions, your boys have chosen the most difficult sports and most dangerous ones but, I think it's great that you let them live their life doing what makes them happy despite the toll it will take on their body and the damage they will do.  My job will be to keep putting them back together!"  I loved his attitude!  I loved that he is willing to take on hard things, complex things!  Why can't all doctors be like this?

Even though we had to hear about even more problems today, I feel like it was a productive visit and at least we have a plan and a course of action and another great team member to add.



Photobucket

Holding patterns


Today, we find ourselves in a holding pattern.

It's not that I dislike holding patterns, their pretty benign, but I am anxious get going on this testing.  The sooner we start, the sooner 8 weeks will be here. The sooner we can discover what the future has in store for us.

I have spoken to our Oncologist here in town and he is just waiting for a couple more things from Seattle before we can proceed.  He told me that Shelbie would also be involved in the testing which came as yet another surprise.  I'm not sure what that means really since she definitely said Shelbie did not have the gene for the new disease. Who am I to argue.

Another holding pattern we have experienced today is getting Sam's bone marrow report back, at least the preliminary look that measures the % of functioning cells.  He is pretty much in a holding pattern in what they call the cellularity, as he was 6 months ago so 20% give or take a white cell or two!

When I stop and consider what 20% really means...my kids are doing miraculous.  One would have to imagine that a bone marrow functioning so low, would mean countless infections.  So far, we have been able to avoid the big ones that come up in the winter.

We've been given many blessings and breaks over the past couple of days.  This evening, we had two very special visits.  One from our very dear friend who use to be our Bishop.  He had been prompted to come over and share a special song with us.  It was very nice and set the tone for an evening filled with peace.  

Santa came by for a visit as well!  I love Santa.  Santa has seen us through some pretty tough years over the past 16 years!  I was trying to figure out how I connected with him and I can't remember.  It seems like he has always been here, always part of the family.

Today has not felt as raw as Thursday, Friday, Saturday and Sunday.  Today feels more numb and foggy.  I guess that's okay.  I haven't thought about our situation too much which is good.

When the kids were first diagnosed, I tried really hard to appear strong.  To be the rock that I was expected to be.  I feel like this is a do-over and I now I am going to be honest instead of strong.  I know that I will have my strong days but I'm going to allow myself to be weak and vulnerable too! That's a bit scary.  I feel bad that I am not happier about this news.  There are so many other parents who would give anything to be in my shoes.  They would be happy, they are ready to hear the name.  That makes me feel undeserving of the fact that our doctor was working so hard just on our family!! So much time, so many resources.

One thing I always love to see, is how God's timing and purposes begin to unfold and I can see the pieces and purposes start coming together.  Therein lies pure Holiness and Reverence for a God that is filled with mercy.

Our focus for this week is trying to sleep.  I don't sleep well on a good night because of the arthritis pain I have to deal with, but this chaos is compounding to make sleep nearly impossible.  I get about two hours and then I'm wide awake, my mind chasing possibilities.

Tomorrow, Shelbie has her follow up with the Orthopedic surgeon to see if he can fix her knees.  Wednesday, IVIG and another marathon day at the hospital, Thursday, I have kept open for Sam's testing.  So, no rest for the wicked this week!

Photobucket

Sunday, December 15, 2013

Breath of Heaven

Without a doubt, it has been a pretty crazy couple of days.  I have been asked by many how we are doing?  I'm not really sure how to answer that question.  It changes every hour, literally, every hour I feel something different.

Friday was just about getting through the day. It was about waiting for our doctor to call and get things started.  It was about just trying to keep the tears at bay.

Yesterday was different.  Yesterday, I wanted to feel peace. I needed to feel peace.  I prayed that I would feel peace.  Yesterday, there was more peace.

Yesterday, I sincerely felt Heaven and a host of angels lifting me up.  The breath of Heaven I wanted so badly to feel, I felt.  It came in many forms, some unexpected but it came.

It came in the box of presents that appeared on my doorstep late Friday night.  It's not the presents that touched me but the fact that each of the 12 gifts had a tag with a thought written on it.  Little reminders that there is a God.

It came while spending the morning in the temple.  As I wrote my children's names on the prayer list, I could feel Heaven lifting a portion of this burden.

It came when my dear friends brought a box of food, more presents, homemade caramels but most importantly, they brought their beautiful spirits into my home and a thought, reminding me that the purpose of life is to rescue one another.  They were part of the rescue team today.

Finally, the highlight of my day was a little three year old that came over to hang out with me.  He belongs to my neighbor but I claim him as my own.  My neighbor had called to see if they could bring us a treat and I asked that they let their little boy come down for cookies and milk and Christmas stories.  This little boy loves Spiderman.  While Shelbie napped on the couch, we pretended to cover her in our spider webs.  Part way through of our playing, he stopped and said, "You can't be Spiderman, I am ."
"Oh, okay.  I will be Batman!"
"Nope, you can't be him either."
"Oh, okay.  I will be the hulk!"
"You can't be the Hulk, you are a Princess!"

My heart melted!! I need to keep him around more often.  It was a fun afternoon with a little boy full of life and happiness.

Photobucket

Saturday, December 14, 2013

The Grey Matter

I am still a little in shock but mostly I am feeling guilty.

I know there are a dozen or more mothers who wish they were the ones who had gotten the call that a gene was found for their child. I know that for years and years, I thought I wanted to know the gene that was causing all these problems.  I thought I wanted a name, a place to hang our hat, call it home and settle right in to the business at hand. A dozen or more mothers are happy for me, hoping for the same great news. For this, I feel guilty.  Maybe it should have been one of them to get this news, one of them who was ready and really did want answers.  Instead it was me.  I don't even appreciate the 'gift' I've been given.  It's not that I don't appreciate all the time and hard work of a superior team of doctors, I certainly do but maybe I needed a little more time to mull over the effects of finding the gene.

I never realized until Thursday, just how much I loved being in the grey area.  Limbo.  No man's land...the territory of clinical.  I never realized how deep the phrase, 'if it looks like a duck and sounds like a duck and walks like a duck...it must be a duck' meant.

Grey is insulating.  It wraps you all up in possibility. The grey area allows you to be open to ideas.  It presents itself with questions.  The grey area means that maybe, just maybe it can be fixed.  Maybe, it's not as bad as it seems.  Maybe, they just have a mild version of my friend's living nightmare.  Grey means, you can deny that anything is wrong really, and denial is sometimes a really great way to get by. At times, the only way to get by and I sort of liked that my life marched along to the dull beat of denial.  I had become kind of comfortable with our undefined life and as long as I didn't venture out too far in the land of 'normal' people, I was none the wiser that this was not everybody's reality.   Sure, it has been  hard to plan a future, plan a day even but we've done pretty good.  Grey meant there was so much more room to dream.

Grey is a question mark ' ?' .  Its soft in it's punctuation and open to many points of view.  That makes life interesting.

In 8 weeks, give or take, we will have a name and no longer will the boys be packaged in grey.  No longer will there be room to imagine something better, something with an easy fix.  No longer will we spend hours guessing, reading, learning, researching.  The beat of denial will be harder to hear.  No more will life be loosely defined and somewhat comfortable.  Nope.  Now we will have to love the cut and dried of life; the black and white. Parameters.  Definitions.  Prognosis...I hate that word. Someone telling me what's left of our story and how it will end.  I hate that too.  Now we will deal in exclamation points and periods.  No more run on sentences and never ending questions!  I don't want our lives to be defined and right now, I find myself in this quandary.

I want to be happy.  I should be happy.  I am chasing happiness but I have yet to catch it.

Photobucket

Thursday, December 12, 2013

Upside Down...Inside Out

This week marks another anniversary.  The anniversary of our Shwachman Diamond Syndrome diagnosis. 14 years we have lived in the realm of SDS.
14 years of trying to get 'use' to life with SDS
14 years of heartache
14 years of worry
14 years of not knowing what will happen next
14 years of trying to be heard
14 years of isolation
14 years of people thinking I have made all this up
14 years of doubt
14 years of being a fish out of water
19 years of bone marrow biopsies, countless hospitalizations, life flights, ambulance rides, chronic infections, mysterious illnesses, more disease, more doctors than we can count on two hands!
21 years of research, never sleeping, spending every waking moment with my kids, celebrating every 'first' with more vigor than the average person thought was necessary.
21 years of puzzles, head scratching and being accused of all sorts of things including, but not limited to Munchhausen, starving my kids, lying, making things up, convincing doctors to look for one more thing.
21 of the hardest years you can ever imagine!!
21 years of loving and keeping the greatest possession God has bestowed upon me ALIVE!
21 years of never letting go even when everyone else did.

This week, marks the anniversary of the beginning of our journey in the world of clinical Shwachman Diamond Syndrome.  This very week also marks the END of the road with Shwachman Diamond Syndrome.

Yes, you read that right.  This will no longer be a blog about Shwachman Diamond Syndrome.

And now...the rest of the story...

Tonight, the phone rang at 4:35 pm.  Samuel read the caller ID and it said, Seattle Children's Hospital.
"Should I answer it?" He asked
"YES!  It's probably the registry wondering why I haven't sent the questionnaire back."
Sam handed me the phone.  It was not the registry, it was our doctor, Dr. Shimamura.

I was not expecting a call from her.  I was not expecting anything for her.  For a moment, I was confused as to why she would call.  In my confusion I thought to myself, She is calling to wish us Merry Christmas!
Quite matter of factly, no drama, no word games...Do you want the good news or the bad news...None of that; plain and simple she said, "Kathy, I have discovered the gene that is making your boys sick."

Those cold and simple, no frill words burned my very ears and shattered our cobbled together reality.  As I listened to her gentle voice, I was frantically trying to gather the pieces of my crumbling heart that splintered off with each word. "NO" I wanted to scream,"Wait, I can't do this again! Not again! Stop talking!!!"

But, it's true.  With as sure as science can get with genetic research, my boys do not have Shwachman Diamond Syndrome. What do they have? I won't know for 8 weeks!!!

When I met Dr. Shimamura 5 years ago, we joined in her research of Shwachman Diamond Syndrome.  We have always been available to donate tissue when she needs it for research purposes.  When the kids have bone marrow biopsies, I allow them to take twice as much bone and tissue so she can use a portion for research.  In return, we have had the top geneticists and doctors in the world, studying our family.

5 years of Dr. Shimamura's hard work has finally paid off but because it is a research project, not a clinical project, she is not allowed by law to tell us what the kids have.  She is allowed to contact our doctor and request various clinical tests but even He can't tell us until the clinical results are ready.  It will take 8 weeks for clinical results.

Starting as early as tomorrow, Sam will undergo specific tests but we won't know what those are until tomorrow morning when we make contact with our Oncologist here.  Dr. Shimamura  is preparing a team of doctors and counselors for us to meet with in Seattle in 8 weeks.  We will need to be there a week or possibly longer "For counselling" she said.  I have no idea what that means.

I have no idea what this means for Spencer.  She said "I understand how important a mission is in your religion and I don't want to distract him from his work if we can help it."  I think we will get things rolling on Sam and deal with Spencer as needed.  She did however, insist on a blood test for him.

Now, what about Shelbie?  She did not have the gene she found in the boys.  This means one of two things.  Either she has a mutation of the new disease or she has a completely, altogether different genetic disease, possibly still Shwachman Diamond Syndrome.

All I know at this point, is that the new disease is closely related to SDS.  It is a bone marrow failure disease but has features that are different.  I also know that the new disease is also an orphan disease like SDS so treatment is difficult and hard to obtain.

So...how are we all doing after this thermal nuclear evening?  Not great.  It feels like we have just been carried away in the eye of a very big storm.  I am exhausted!  I am worried!  I am anxious! I don't know how I am going to survive the next 8 weeks and keep my kids from falling to pieces.  Shelbie is taking it very hard!  Sam is trying to remain distracted but he is really worried.  We didn't see this coming.

At the same time all the distress is raging on, I feel relieved but still, I am in shock.  I can't even believe it!  It sounds cliche but I keep thinking I will wake up and we will have our cozy, undefined life back!  This feels identical to that day 14 years ago when they told me my kids had Shwachman Diamond Syndrome.  The very same, brain numbing way!  I don't quite know what to do with myself.  I thought if I ever heard this news, I would feel happy and this is not happy and that makes me feel out of control.

Relieved?  Oh, ya, I guess I did say that in the last paragraph...Yes, because all I ever wanted was a name, something to call the beast.  We called it SDS because that was the closest fit but now we know...will know.  It has a name, a personality, something that will reshape our future, different from our past.  It's going to be hard.  I don't even know how to do this!  Finding our normal after the SDS diagnosis was shaky at best and I didn't handle it all back then.  I don't know how this will end now.

Tonight the words of my favorite Christmas song plays on a continuous loop in my head...Breath of Heaven...Hold me together...

I have traveled many moonless nights
Cold and weary with a babe inside
And I wonder what I've done
Holy Father, You have come
And chosen me now to carry Your Son

I am waiting in a silent prayer
I am frightened by the load I bear
In a world as cold as stone
Must I walk this path alone?
Be with me now, be with me now

Breath of Heaven, hold me together
Be forever near me, Breath of Heaven
Breath of Heaven, lighten my darkness
Pour over me Your holiness for You are holy
Breath of Heaven

Do you wonder as you watch my face
If a wiser one should have had my place?
But I offer all I am
For the mercy of Your plan
Help me be strong, help me be, help me

Breath of Heaven, hold me together
Be forever near me, Breath of Heaven
Breath of Heaven, lighten my darkness
Pour over me Your holiness for You are holy
Breath of Heaven, hold me together
Be forever near me, breath of Heaven
Breath of Heaven, lighten my darkness
Pour over me Your holiness for You are holy
Breath of Heaven, Breath of Heaven
Breath of Heaven


Read more: Amy Grant - Breath Of Heaven Lyrics | MetroLyrics 


I'm not Mary, I get that but in a way, I sit here tonight,beside the fireplace, the Christmas tree sparkling in the dark house and wonder why Heavenly Father chose me to be their mother?  What made Him think He could trust me with their care?  I am worried about this load.  Worried about insurance, money, jobs, health...all of it!  It all rests squarely on my shoulders and I am overwhelmed and tonight, even paralyzed. 

Still...all I can do is call upon the powers of Heaven to rest upon our weary little family. Prayers that Heavenly Father will help me be strong, hold me together and in all His mercy, help me feel the Breath of Heaven.  That's all I want for Christmas this year...The breath of Heaven.  


Photobucket

Saturday, December 7, 2013

State of Confusion- Part 1

There is a lot going on around here by way of health problems.  Earlier this spring, the kids were all diagnosed with Hypermobility Disorder.  With more learning, I came to understand that this is not just being super flexible, it's a collagen defect.  Without adequate collagen, our entire body suffers; joints, arteries, veins even your organs.

Hypermobility falls into the spectrum of the disease call Ehlers Danlos Syndrome.  I have been spending every spare moment trying to understand this disease.  It causes the veins and arteries to get lax and blood leaks out.  Without collagen, the cells walls are weak.  A person with this part of the disease is at high risk for strokes, hemorrhaging, even organs hemorrhaging which obviously leads to immediate death.

Now...don't get lost...It will all connect...

I have talked about some issues I have been having like crazy lumps that have started covering my legs but mostly they cluster around my joints in my legs; knees, ankles...remember the ankle issues this fall?  I am convinced it was caused from a pseudo tumor growing at the joint.  The steroids they gave me helped it feel better but it's coming back.  I have one on my knee too that is growing out of my tendons and pressing on the muscles and nerves...yes it hurts constantly.  I also have them growing in my kidney, breasts and lymph nodes.

I was also born with congenital hips.  Plain and simple, my hip socket was not developed so my legs were backwards.  Yep.  Not only that, I was super flexible.  I could walk with my toes bent backwards, put my leg behind my head...etc.

I got to wondering if there was a connection between my issues as a child, these lumps I am growing and my kids' issues.  Obviously, I gave them at least half of their messed up genes so it only makes sense that something is awry with my genes too even though the symptoms are not as vivid as the kids. That's why they call me a 'carrier'.

So, I have been trying to find a doctor that would take some time to help me piece this puzzle together.  This led me to cardiac testing to see if my arteries are strong and clear and if I have any heart abnormalities that are common in Ehlers Danlos/ Connective Tissue Disease.  I also had kidney ultrasounds, and ultrasounds of my legs.

With all this, I learned this week that I have connective tissue disease...the lumps are growing where my joints connect and it's a collagen defect.  Guess what else...One of the hallmark signs on the spectrum of Ehlers Danlos Syndrome is Congenital Hips!!  Eureka!

It also causes:
Kidney masses
Liver masses
Pseudo tumors- they seem like cancerous growths but typically come back negative for cancer
Petechiae
Joint injury
Seizures
Arthritis
Hearing loss
Heart Arrhythmia
All kinds of heart problems
Stretchy skin
Cataracts

The list is long and goes on and on...
I have over half of these symptoms.  My kids have just about all of these symptoms or had them like seizures!  They were plagued with seizures as children!

Here's where it gets really crazy for me....Do my kids have Ehlers Danlos and NOT Shwachman Diamond Syndrome & Mitochondrial Disease?  Incidently, collagen defects also causes bone marrow failure and immune deficiency.

But wait...I just found a recent article outlining the collagen defects in Shwachman Diamond Patients.  The gene that causes that also causes connective tissue problems, collagen defects, just like my kids have!!!

Not only that...just about every Mito kid I know also has hypermobility to some degree and connective tissue problems.

So...it's making me crazy!  Ehlers Danlos is very interesting because I see some of the issues in other members of my family and from what I've read, the disease worsens with each generation.  The life expectancy is only 48 years old!  That sort of freaked me out...but my doctor said that would be if you have the serious forms that affect your arteries.  So far, my arteries are perfect.  I have mitral valve prolapse, another common symptom but it's mild and doesn't cause problems right now. The growth in my kidney is stable.

Just for precaution, my doc put me on a low dose Aspirin and I have to start weening off my Estrogen Replacement which really annoys me...but I'll save that complaint for another post.

The weird thing is, since I have been studying all this...I have met at least 10 more families with an SDS, Mito, Ehlers Danlos combination!  I am onto something here, but finding a doc to partner with is going to be tricky!




Photobucket

Friday, December 6, 2013

Unspecified

Shelbie finally got in for her MRI on her knee yesterday and we got results today.  Three doctors all said she had a bucket tear in her meniscus.  They told me the MRI was just a technicality because they would need it for surgery. It was hard to believe she had a tear when she hasn't done anything that would really cause a tear.

Regardless, surgery is where our minds settled and came to terms with, since three doctors were so sure and all agreed on the diagnosis.

Well, it's not torn.  The radiologist said she has unspecified cartilage abnormalities.  Who on earth knows what that means?

All we know now, is that she has to see an Orthopedic surgeon next to figure out what in the world is going on.

Today, she came to help me clean a medical clinic.  When we arrived, two of the docs were still there working late.  Shelbie was dusting the reception area and when she turned to walk, her knee buckled and she was on the floor.  This happens nearly every day lately. When it happens, she can't move her leg in any way.  It usually takes several minutes before the pain subsides and she can move.

The doctor walked past the room we were in just as I was trying to lift her from the floor.  He was startled and came running in.

I didn't know how to act.  I didn't want him to think cleaning had anything to do with it so I just acted like it was no big deal. He kept saying, "What is wrong with her?" I finally just said, "She has Shwachman Diamond Syndrome and Mitochondrial Disease, this just happens.  It's just life for her."

At that moment, I could tell I was getting all choked up and knew I needed to change the subject.  I was so caught off guard with the emotion and anxiety I was feeling.  Bleh!

I hate that!  People get all weirded out when they hear what we deal with and I try my hardest to downplay everything and make if okay for them but I don't think it worked in this case.  We both felt dumb when it was over and docs just stood there confused.

There have been several new and interesting developments in the kids' health and this is just the tip of the iceberg.  The crappy genetics are even starting to manifest themselves more in me too!   Needless to say, it's been a strange and difficult week.

Photobucket

Saturday, November 30, 2013

Fitting us for Heaven

Man.  November was not fun!  Even the last day of November...not fun!

Exasperating.  Discouraging.  Frustrating.  Exhausting...just a few words that come to my mind.

Here are some more.

Isolating.  Lonely.  Sad.  Doing it all...(okay, more than one word but BIG nevertheless)

But...today, after Sam lost his vision for the morning, broke out in hives in the afternoon, sprained his ankle badly, Shelbie's dislocated hip and frozen knee...again... and just before my 10th nervous breakdown for the day...I realized that maybe this is just God's way of 'fitting us for Heaven.'  I sure hope that at some point, there is a reason for all these rhymes.  I hate rhymes, I hate riddles. I hate doing anything in vain.

Yesterday, we got the house decorated for Christmas, well, the front room anyways.  My house isn't big enough to put decorations anywhere else.  When it was all done, the house was still, the sun had set and the twinkle lights turned our little room into a Holy, Reverent place.  We sat there, quiet and for the first time in a long time...I felt my shoulders drop and I sunk into the cushions of the sofa and life felt like a good fit, snug. There was that elusive feeling of peace I have spent so much time chasing but never quite able to capture.

I wish I could hold on to these fleeting moments of quiet. Contentment.

It's so much work to stay in that fragile place.  It's so easy to let the world barge in and distract us.  One little thing, small, inconsequential really but still, One. More. Thing... and all hope and hard work spills out, all over and I want more than anything to at least splash a little of what's left on my face but it's gone, evaporated into the dry air of chaos again.  I start over.

There's a line from the Hunger Games that says, "Hope. It is the only thing stronger than fear."

So, heading into December I am letting hope try to get some footing in my life.  Trying to believe and hope that all the problems are just fitting us for Heaven. That this is exactly where WE are suppose to be, even though everyone around me seems to be strolling down easy street.  I can't wonder why though, it gets me nowhere.  We are here and as along as we can steal little glimpses of goodness, then I guess that's okay for now.

Photobucket

Wednesday, November 27, 2013

Bone Marrow Biopsy #2

Samuel and Bone Marrow Biopsy 


Sam had is second bone marrow biopsy for the year done today!  It was the weirdest thing to walk into the hospital with just one child, not my entourage.  It was weird for Sam too!  The kids have gone through everything together.  He was a trooper and in really good spirits.  He didn't seem nervous.

The nurses at our little county hospital are so great with the kids!  I can't say enough nice things about them.  We had Nurse Nicole today.  Nicole and I go clear back to our college days and I am always happy when she takes care of the kids.  She treats them so kind and has the same kind of humor we do so it's always very comfortable.  She was great to move things along so Sam didn't have a lot of time waiting around to be nervous.

Dr. Hancock was great as well.  He is always so happy and positive.  He is one of the few doctors who understands my desire to research and learn all I can about the disease process and healing things.  I have overwhelmed a lot of new docs lately so it felt great to be in a place where there is mutual understanding.

Sam did well and the procedure went well.  I was really hoping we could have put off this biopsy and waited until the year mark but his counts are pretty low and he has had more infections lately than usual so I'm glad we did it. Sam's first set of vitals when we got to his room were so low!  The nurse was amazed but did not freak out which I appreciated.  His heart rate was only 38!  His blood pressure was super low as well.

I got him home around 9:30am and had to leave him right away.  It about killed me to have to do that but I have been scrambling to find work since being laid off and I got a new house to clean two weeks ago.  Two weeks ago when I set today as our starting date, I didn't know this biopsy was going to come up.  She asked me if my kids' illness ever gets in the way of work and I said, no.  There was no way I could cancel.  Thankfully, Sam understood and was patient with me as I was gone for 5 hours cleaning!  Shelbie helped out to make sure Sam had everything he needed so I really appreciated that as well. Some days, the single mother gig is a lot harder than others.

This entire week, I have only averaged about 2.5-3 hours of sleep each night because of one thing or another.  Tonight, I have mountains of laundry to finish and clean my own house but I am hoping to get a solid 6 hours tonight!  That would feel like Heaven!  I am so incredibly exhausted...words don't even come close to describing the exhaustion I feel.

I will be so totally thrilled to see November as a distant memory!

Photobucket

Sunday, November 24, 2013

Short lived

It seems that whenever I think we were just given a lucky break, it is short lived.

Shelbie's transfusion went so well on Thursday, so amazingly well.  I thought the rest of the weekend would be smooth sailing.  Friday was good and early Saturday was good but then the headache and nausea hit all at once.  Not only that, but she had her knee completely give out Saturday night for no apparent reason.  I ran her over to the Urgent Care and he thinks she has a torn meniscus and something wrong with her ACL.

She has been having knee problems for nearly a year but since I was trying to pretend that more problems didn't exist, I haven't done anything about it.  Well, looks like we will need to have an MRI and stuff.

This morning, I had to rush Shelbie to the ER.  She couldn't move with pain and pressure in her head and neck.  Aseptic Meningitis finally set in.  She had called me three times at church but I didn't hear the first few rings/vibrations.  Then Sam started calling and as soon as I could get out, I called them back.  She was so sick.  I rushed home to find Sam and her Step Sister there ready to take her to the hospital since they couldn't get a hold of me.  I felt so bad.

We got there and the nurse must have thought Sam and I were just some friends because she was not nice. She wouldn't even let me talk.  After about 10 minutes, she said, "And who are you?"
"I am her mom."  From there, everything turned around.  I think it also helped that the other nurses were asking me about Spencer and other things they knew about our family.  The doctor on shift had handled this for Shelbie before so things moved along to get her some relief. After 3.5 hours, 2 liters of IV fluids, Toradol, Benedryl, Compazine and Morphine, I brought her home to sleep it off.

The headache came back tonight but I loaded her back up with stuff...and she is doing better, the worst is over.  Hooray!

I don't get it, I am always being mistaken for her friend!  I realize we don't exactly look alike, she takes after her dad's side of the family but I also don't look like a 20 year old!  Seriously, they can't see the wrinkles, the bags under my eyes, the arthritic hands and humped back whale back?  Aye!  Oh well.  Anyways, I guess if I were a nurse, I wouldn't be too thrilled that a patient brought a bunch of friends, aka Sam and I.  Ha ha... such is life.

For a Thanksgiving week, we have a lot going on in the way of medical stuff.  Up next, Sam's biopsy.

Photobucket

Friday, November 22, 2013

Nice for a change

Shelbie had her transfusion yesterday and I was so happy it went extremely well!  It was probably the best transfusion we have had in months and months!

They gave her a liter of fluids this time and I think that helped with all the nasty reactions.  Her blood pressure was stable the whole time and she didn't run a fever or get nauseated!  I can't tell you how relieved I was!  It was still a longish day but that's better than longish and miserable!

Sam is scheduled for his bone marrow biopsy for next Wednesday!  I know...the day before Thanksgiving!  I figured it was a good time since he will have a few days off from school and we usually just lay around stuffing our faces anyways and...I am set to lose my insurance on December 15th...or at least find something in the exchange and that is still a big question mark so I want to get things done sooner than later!

It's a little weird thinking that I am only taking one kid to the hospital for one bone marrow biopsy!  I haven't done that very often and it feels so strange!  Not only do I feel strange but so does Sam.  Shelbie too.  They always go through these things together.

6 months ago, when the kids had their last biopsy, the boys' came back with concerning numbers.  They wanted them both rechecked in 6 months if their peripheral counts didn't look better.  I was really hoping we could avoid this but his counts are very low and he has had more infections than usual and he has been plagued with hives for 3 weeks.  The doctor thinks this is from the bacterial infection he had three weeks ago...his body is still revved up from fighting that.

So...we aren't in a holding pattern but the blessings of a good IVIG infusion for Shelbie was promising!


Photobucket

Wednesday, November 20, 2013

Finally!!!

Geez, it's amazing what happens when people listen!

It shouldn't take me 4 different doctors before I find one that will actually pay attention when I say, "I am in pain." and dismiss it with a scratch of the head because they really don't want to take the time to be helpful!

I saw my surgeon today in hopes that he would take out this extremely painful lump growing on the side of my tibia, it's about 1 1/2" in diameter.  He won't take it out, it's not safe to but he thinks he knows what it is...Phlebitis!  Bleh!  He said there are no deep clots that he can see yet but if I can't get this calmed down I could get into some trouble.

He did an ultrasound of my right leg and I was shocked to see little cyst like pockets of inflammation all up and down my legs.  I'm talking more than 12!  One cluster had 5 cysts all surrounding my vein!  I don't get it.  I don't understand what is happening to me.  There are at least 8 more starting to grow on my left leg!  He thinks it may have some auto immune origins and my body is just attacking the venous system.  That's pretty scary.   Another theory is that the estrogen replacement I take is either creating these problems or exacerbating them.

I'm going to have to really think about dropping my estrogen replacement.  Menopause sucks!  Plain and simple it sucks!  I suck without estrogen. This whole problem is not something I am too excited to deal with.
I don't even know where to start with all this meaning, how to resolve it.

He put me on a daily Aspirin regimen to stave off any risk of strokes and I have to wear compression stockings for 12 weeks!  My gosh.  It just never ends.  While I'm really happy I don't have cancer..I don't love this either.  Sometimes, I just wish they could cut it out and be done!


Photobucket

Tuesday, November 19, 2013

Survival of the Fittest

This is my mantra for the rest of the week...survival.  It's a bit of an oxymoron because none of us are fit enough to be surviving anything!

Tomorrow, Sam has his appointment with Oncology to get things set up for his second bone marrow biopsy of the year!  How fun.  At least we will be able to stay here in town rather than commuting to Seattle.  It is so weird to me to be doing a bone marrow biopsy with just one kid!  Even Shelbie asked why she wasn't doing one too?  Well, Sam's marrow was abnormal and funky in May so we are checking to see if he is stable, declining or if...maybe....things have resolved!  How great would that be?

Also tomorrow, I am meeting with a surgeon to get one of the lumps on my leg removed (the most painful one) or at least biopsied.  I figure biopsies are a waste of time, if you have to cut me open to get a small piece for the biopsy, why not just get the whole thing out?   I may even be able to have it done tomorrow!  I don't want to spend a day in the hospital for this so I am hoping he can do it in his office with lots of valium and versed!  (I know...call me crazy)

Thursday is the dreaded IVIG day again!  Didn't we just barely survive the last one?  It came much faster this time around.  I haven't asked Shelbie how much she is dreading it but I know I am!  I feel sick when I think about it.

So, here's to a busy, busy week...one that makes me feel sick and twisted up.  I hope I don't puke on my shoes!

Photobucket

Sunday, November 17, 2013

Bone Density

I was offered a free bone density test this week so I was all over that.

They were doing training with some new nurses and I was the guinea pig for them to learn on.  I have never had a bone density test and I have often wondered what is really happening in those hard to see places!

Honestly, I view myself as being 'fragile' physically.  Maybe it's because of the degree of pain I live in on a daily basis and the fact that my hair and nails are so brittle, I assumed that also reflected the state of my bones.  Not only that...but I come from a long, healthy line of Osteoporosis!

I don't really do the things they suggest like drinking milk.  I rarely drink milk unless it's laced with several cups of sugar and a healthy portion of Hershey's syrup mixed in and whip cream on top and a salted caramel drizzle doesn't hurt either!  If my milk was served like that 5 times a day...I'd be all over that!  I'd also be fat!

It was funny because my nurse friend who asked me to help out, chose me because I am thin and on the other side of menopause by 3 years so she was pretty confident I would be a good sample of osteoporosis for the nurses in training.  She told me at the beginning of the test that they weren't allowed to give results, if I wanted results, I would need to see one of the doctors.  Fair enough.

Well, things went smoothly and nurses did it a few times to practice.  When it was over, they collected the data and printed the results.  My friend just about keeled over!  She said, "NO WAY!!! You are above normal! What the heck?!"

Yay...score one for me!  I was so happy!  She did give me a copy of the test and sure enough, I am way into the green.  She is also thin and about my age and her bones are not doing as well and asked me what my secret was.  I don't have a secret.  I do weight bearing exercises just about every day so that may be what's saving my bones.

All of a sudden, I don't feel so fragile!  


Photobucket

Friday, November 15, 2013

This will never work...

One last story from my hospital visit last week.  I had to have an IV while I was there.  This nurse walks in and I can tell by looking at her that she did not love her job.

She gets her stuff all ready to for the IV and pulls out a catheter from the package.  She looks at it, then looks again and tries to mess with something on the end of the needle with her un-gloved finger. She starts mumbling and she says, "This is never going to work."

I wasn't sure if I should ask her what wasn't going to work because I have veins you can drive a semi tractor through so basically, I could have threaded the catheter myself, or if I should just let her carry on a conversation with herself.  I let her just keep talking to herself.  I tried to play dead.

Then she says, "There's a darn hook on the end of this needle, those never work."  However, despite her convincing monologue, she proceeds to try to thread it in my vein.  She was right.  It didn't work.  In fact, she went through my vein, right through it to the other side and of course pulling it out did not feel that great because it had a hook on the end of it.  I continued to play dead.

She tried again and I swear, she would not stop grunting and complaining to herself.  Finally, she achieves success.  Sheesh!!  What a gem.

The moral of the story...I'm not really sure actually...I guess when in doubt...Play Dead.

Photobucket

Thursday, November 14, 2013

Hives

Sam has had hives for over two weeks now.  Weird.  I thought we had fixed it but they sprouted up again tonight while he was at his gym class along with nausea.

Shelbie and Spencer have battled this in the past and now Sam.  I'm not sure if it is the same thing but it's looking like Dysautonomia is picking up speed with Sam now.  That's too bad.

Next week, he will likely have his appointment to get his bone marrow biopsy set up and we will deal with it then. For now, Benedryl has become his friend.

It will be interesting to see what the doc says and maybe, if the stars align just right, his blood counts will be good enough to safely skip this bone marrow biopsy.  If not, we will deal with it.  At least we will be able to have it done locally and that will be very nice!

Photobucket

Wednesday, November 13, 2013

The Bind

Last week, I had to spend a large part of the day in the hospital.  Almost 5 hours of testing.  It wasn't fun as you can imagine.  Oh, I just realized, I never discussed the doctor's appointment prior to all these tests.

It's a very long story and by long, I mean, it would take three long blog posts to explain the details and who has time for that?   The short story is, I went to a new Specialist/Internist here in our lovely, too small of a town.  I had heard good things about him and he is fairly young so that usually means they are open minded and since nothing with us is standard and customary, I needed someone who was fresh and eager to learn and not afraid of unusual things.

I went very well prepared for the appointment.  I had a sheet of notes, well organized of concerns I had.  I told him when he came in that I had a 'laundry list' of issues and only wrote them down so I could keep it all straight and not forget anything.  He said, "Great."

Well, clearly it was not great and I barely got done with the history and touched on the genetic stuff with the kids, only because he asked and his mind was blown.  He even said, "I am just really overwhelmed right now with everything you are talking about."
"I understand.  It's a lot and it's stuff you don't likely deal with every day but I appreciate you listening and taking the time." I really tried to be kind.
Then, he just goes off like a rifle! His bedside manner totally flipped and his puny sized Ego came out and that was the end of logic and reason and then he was just sort of rude.  He basically shut down and didn't go any further.  He ordered this huge array of tests at the hospital and then said to come back on a Saturday to discuss the results.  Who goes to the doctor on a Saturday?

So, here's the bind.  I'm not going back to him!  I don't need some doctor flipping out and being rude when I'm paying HIM to help me.  I'm not there to stroke his ego and make life easy for him.  But, now I have all these test results sitting in his in box and I don't even want him to have one part of anything having to do with me.  He works in this big, multi doctor clinic and I dislike the majority of the docs there and they know it and have the same feelings towards me and now, they all have access to my results!  It's so maddening.

I know some of the tests were abnormal so I have to find a doctor who can pull my results from the hospital and get headed in the right direction to 'fix' it all.  So, it means more doctor visits.  I'm so sick of doctors.  They are so cranky when they have to deal with anything beyond text book stuff.

I was talking to a PA about my dilemma and he said I needed to go back to the Internist and apologize for being too smart and overwhelming him.  Really.  Apologize for being too smart; for knowing more than the average bear?  There was a day when I would have done just that but those days are long since over and I don't really care if someone is intimidated by me trying to advocate for myself or my kids.  That's a load of crap.

So, it's back to the drawing board and meanwhile...There are a bunch of test results awaiting some kind of resolve.

Photobucket