Tuesday, August 30, 2016

A 14 year reunion

The stars aligned just so and it was no coincidence that I ran into my cousin while we were at Huntsman's.  I didn't know they were inpatient until the night before our appointments so I messaged them on FB that I would stop by and see them. In fact, I didn't know they were there at all!

We haven't been in touch with each other in 14 years.  The last time I saw them, they had come to babysit my kids while my husband and I went on a trip.   Before that, we were roommates, our first year at college.  We have failed miserably at keeping track of each other.  It's sort of a typical thing for my family.

It was very late in the day when we finally got to see them.  Her husband was diagnosed with Leukemia last year and  things recently progressed so fast, he needed more aggressive treatment this year.  Tuesday of last week, he had a stem cell transplant with his sister as the donor.  It was great to see them.  He seems to be doing as well as could be expected.

As soon as I saw her, she came running towards me and gave me a 14 year hug!  She had said she hadn't planned to be there but the day before, she had strong impression that she needed to drive 3 hours to be with her husband at the hospital.  They still have some younger kids at home who started school last week and a daughter preparing to leave on her mission in 6 weeks so she has not been able to be with him at the hospital everyday.  They live in Southern Utah.

I tried not to dwell on or even mention our own ordeal.  I was glad that I could be there for hers.  She is gearing up to teach Preschool out of her home in order to help cover medical bills and missed work while her husband gets better.  I can't imagine how hard it would be to fight cancer, start a career, raise your family and get a child on a mission.  That's a full plate!

For some reason, it was important that our paths crossed last Wednesday.





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Sunday, August 28, 2016

More tales from our extremities

One would think that Spencer's ordeal was more than enough for one person, one family, one mom to endure last Wednesday, but no...that just happened to be the most extreme.

Oncology was interesting.  I guess we will start with Spencer since he's in the spotlight- Our oncologist is the only doc in the bone marrow transplant clinic that does a blood smear from a finger stick.  He is the only doctor who still finds value in looking that blood himself under the microscope. I appreciate that so much!  There are many little clues you can find a finger stick and looking at the live cells.

Spencer's smear showed a few abnormal/immature cells.  He said it's probably nothing to concern ourselves with but all the same, he would like to get the bone marrow biopsies done as soon as we can get it scheduled.  Since we are now in the big leagues, anesthesia for bone marrow biopies is not done. I will never, as long as I live, understand why this is acceptable.  At Huntsman, they only have one day a week that they schedule a bone marrow biopsy with sedation and only one can be done on that day.  I don't understand why, something about scheduling.  While we got permission to do sedation, the kids will have it done individually and on three separate trips to Utah.  Bleh!  For the majority of their lives, they have done this annually, and together.

Spencer continues to have some bad GI problems and lung issues so more appointments are in store for him.

Shelbie- we knew from our cardiology and pulmonology appointment that some of the granulomas have grown in her lungs and there are some new ones.  Because of this information, he doesn't want to do a PET scan just yet.  He thinks that despite the growth, she is still stable. He was puzzled by her depleted energy.  Other than that, she needs to follow up with GI and pulmonologist in 3-6 months.  We will see him every 6 months and bone marrow biopsy right away on Shelbie.

Sam is another mixed bag.  With two new lymph nodes enlarged in his lungs and another growth of unknown kind in his lungs, he is a mystery.  His heart was very worrisome to our Oncologist.  His rate is just so incredibly low.  It makes no sense to the doctors. Over the lunch break, he even met with our Cardiologist to make sure we shouldn't be doing something more.   He is also worried about Sam's vision loss that still happens frequently, I just stopped talking about it.  Sam will need his bone marrow biopsy, GI visit, Pulmonology visit, and a new one...Neurology.  Neurology is to try to determine why he is losing his vision.  Strange what we eventually come to accept as normal.

If you have been following along, I wrote a few weeks ago about how I think the doctors are dismissing the importance of the failing telomeres in the kids. I really believe the heart and lung issues and even the GI issues are directly related to the lack of telomere caps. The more I read, the more I feel strongly about this theory.

When Spencer was getting changed into a hospital gown for his oncology appointment, The doctor and I stepped out.  I didn't really know what to say to him so I just stood there staring down at the corner.  He broke my silence and said, "Can I ask you something?"
"Sure."
"I have a really good friend who is head of the Telomere Disease clinic at John Hopkins in Baltimore.  I have been thinking since I saw Sam and Shelbie this morning, that perhaps the reason we aren't understanding the way they feel is because of their short telomeres.  I wondered how you would feel if I called her and shared their records with her and perhaps she would be willing to have you come out and see if there is anything she can offer to help the kids feel better."

If that wasn't an inspired moment, I don't know what is.  I had prayed that morning that he would be wise and listen to the spirit.  I had no idea, his thought would be my exact thought.  I expressed to him that I felt the very same way!

I also said, "Part of me is really interested, but, at what point do we say, enough is enough and stop trying to find and fix problems that we both know will never be fixed?  I just don't know what is right anymore.  I don't know how much to keep putting these kids through, our family.  I feel like we are coming up on a crossroads where that decision has to be made.  I don't know what to do."

With his dark Lebanese eyes...He looked at me and I knew he could feel my heart and my hurt and my continuing sadness.  "I understand those feelings.  I don't think I know the right answer either."

With tears in my eyes, I responded, "I guess we just keep working together and trust that the answer will be known at the right time."

At the end of that long day in Oncology clinic, the kids each had a chance to say if they wanted to go to the Telomere clinic.  They all said yes.  We will wait and see what Dr. Shami's friend says and then make a plan.

Life this weekend has been hard.  I am realizing that the only way to hold on to life is to let go.  I'm tired and have lost the ability to focus.  Friday, the phone rang off the hook with nurses trying to get appointments for Pulmonolgy, Immunology, Gastroenterology, Neurology, Electrophysiology and bone marrow biopsies scheduled.  My new part time job is going to be spent in driving to and from Utah over the next two months.  There is so much that goes into scheduling three kids from the same family who live 4 hours away.  Still no dates and the thought of more phone calls this coming week makes me cringe.

I honestly have no clue how I am going to work with the schedule we will have to keep up and the toll these latest issues are taking on us.





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Friday, August 26, 2016

Life and Death- a small novel

This has been a life and death sort of week... in a literal sense.

I learned this,  when you come back from the dead, your baggage is a little tighter than when you left, the souvenirs you picked up from here to there and back again are heavy!  There is scarcely enough room to hold it all.

I suppose you are dying to hear what happened...

This week, we had our appointments in Salt Lake at Huntsman Cancer Hospital so the kids could have their check up with the Oncologist.  It was Shelbie's 3 month check up and the boys first time meeting our new doc so there was much to get established.

Spencer also had his appointment with the Faint and Fall clinic and a scheduled Tilt Table test in an effort to determine why he spends almost every day feeling like he is going to pass out, and some days, he does pass out. The episodes have become more frequent so it is a little disheartening.

As is customary lately, I felt very unprepared for the appointments and it didn't hit me until we were checking in that once again, our appointments were overlapping and I would not be able to be with all the kids.  Luckily, my Wasband was able to make it down so that helped.  After a lengthy and somewhat emotional discussion of where I should be, I determined that I would go with Spencer to the Cardiology clinic at the University of Utah and leave Shelbie, Sam and the Wasband to manage things in Oncology clinic.

I left a few brief notes with them of things I needed answers to and concerns I had and then hoped they would be able to speak for themselves and manage their own health to a certain degree...which, they were not happy about.  Spencer's oncology appointment wasn't until the early afternoon so if I needed to catch up on the other two, I figured I would include in Spencer's exam time.   I feel pretty secure in what is happening to their marrow but the heart is all new territory for me so I didn't want to miss details of that.

Huntsman's was kind to give us a ride down to the University Hospital. We checked in and found to my horror that they had scheduled the Tilt Table test for 12:30.  It was a 2 hour test and Spencer had to be back at Huntsman for 1:00.  I was worried we wouldn't be able to get things switched around.  We headed to the exam room and the MA got started on Spencer's vitals and EKG.  His blood pressure was acting up as well as his heart rate.  I was a little surprised but anxious about getting that other test switched.  I asked the nurse and she said we could do it at 2:30.  The problem with that was that Spencer had been fasting because you can't eat before the test.  To make him fast until dinner, when the test was over didn't seem fair.  I sat and simmered in that thought for a minute and then I just said, "Do you think we could just do it now?"

It worked...the Doctor was willing to move his schedule to accommodate ours!  I felt like this was divine intervention.  It seemed unreal that the room was available and they were able to get staff called in to help with the test!

At 11:00 am, the test started.  They strapped Spencer to a table so that his muscles were immobilized.  They started an IV and hooked him up to several wires and blood pressure cuffs on his arm and fingers.  For 15 minutes, he had to stand at a 60 degree angle and report any strange feelings or side effects he had.  The doctor and a nurse each sat at a monitor watching his heart and blood pressure.  By immobilizing the muscles, they can get a better picture of how the heart is handling blood flow.  The muscles help in getting blood from one end of your body to the next.  They were trying to determine if Spencer is having electrical issues in his heart or if it is an autonomic nervous system problem where his brain isn't communicating with the heart properly.

After 15 minutes, they give you a nitroglycerin tablet and then monitor that for 35 minutes.  The nitroglycerin relaxes the blood vessels.  This way they can determine issues with the pressure and how easy it is for the heart to pump the blood from the lower extremities to the brain.

They went over worst case scenarios, the worst being that Spencer would pass out.  I was sitting in a chair in the corner of the room, at the foot of the table.  I asked if I could stay or if they wanted me to leave.  They said they prefer if parents didn't stay because if he were to pass out, it freaks parents out.  I kind of laughed and said, "Well, that's why we are here, he passes out so I've seen that plenty of times before but I will leave if you want me to."

They never asked me to leave.  I promised I would sit still and not make a sound or a move- so the test got started.

It didn't take long for Spencer to start feeling ill effects from being upright.  He reported each thing he was feeling almost at the exact moment the monitors picked up on it.  What surprised me is how in tune he was to his body.  He knew when it his heart was racing and when it was slowing down and even when it was irregular.  The nurse and doctor were pretty impressed as well.  They called him their perfect patient.



Things were happening on the monitor and the nurse saw something and with huge eyes, turned to the doctor and whispered- "Did you see that?" and pointed to a rhythm on the monitor.  Towards the 15 minute mark, Spencer wasn't feeling well.  His hands and feet were really cold, he had pressure in his head and big headache building behind his ears.  They didn't seem concerned and gave him the nitroglycerin tablet to dissolve under his tongue.  It wasn't even 2 minutes later, Spencer said, "I'm going to throw up."  He didn't sound panicked or scared just matter of fact.

And then...my world stopped.  His world stopped.  His heart completely stopped.  The monitors were screaming out alarms,  all the rhythms were flat lined across the screen. But at the same time that Spencer said he felt sick, the nurse began to get anxious and he stood up as he looked at the monitor and said in a bit of a panic to the doctor, "Are we done?  Do you need to see anymore?"  He was speaking quickly and nervously.  It was at the end of the sentence that Spencer's heart stopped.

His eyes rolled back in his head and his head fell to the side.  His fingers twisted in strange ways and his body jerked and then he was still and lifeless.  I knew he was dead. I watched the flat lines on the monitor.  The doctors had jumped faster than I had seen anyone jump before.  They hit a switch and bed fell down with his head lower than his feet.

The doctor put his head down to Spencer's mouth to feel for breathing and see if his chest was rising and falling.  He rubbed his chest and said, "Spencer, c'mon buddy, come back!  Come back!"  and then he began thumping on his carotid artery and rubbing his chest really hard.  "Spencer, come back!  You can do this!"  The nurse was tangled up in all the wires and was trying to get to the defibrillator and IV meds to shock his heart back to life.  Spencer's eyes never closed, but you couldn't see the color of his eyes as they were still rolled back in the sockets.

As unexpectedly as it happened, Spencer gasped for air.  The doctor leaned down close to his face and said, "Son, we lost you! It's going to be okay.  Your heart stopped and we just got it going again.  You are going to be okay alright?"

Spencer weakly said, "I'm a quitter at heart."  We all sort of laughed nervously because it seemed so out of place for him to say that. It took a bit for Spencer to become oriented again.  Obviously, that was never suppose to happen.  It has never happened to them in the past.  It caught them by surprise as well.  His heart didn't even slow down before it quit...It just stopped. It went from 80, 40, dead.  No warning.

When Spencer was stable, they went back through the monitors to determine how long he was gone.  55 seconds he was without life.  Spencer said he felt like he was burning up just before it happened.

I never moved a muscle when it happened.  I didn't flinch, I didn't cry.  I didn't speak a single word.  The doctor was pretty surprised that I had enough control do to nothing as I watched my son lay dead.   In my head- it was a different story. A mess. A million thoughts criss crossed from one side of my brain to the other, some lapping others.

  • He's gone! Spencer is gone! How can this happen? This is the moment I have always imagined in my head to be the worst moment of my life and here it is!  He's never coming back.  This is how it ends.  I wondered how it would end.  It's not suppose to end here!  Not like this!
  • His life flashed before my eyes...every joke he ever told I think I remembered in that moment.
  • I have no regrets. I love him so much.  I think he knew I loved him. 
  • I felt terror but I felt calm and peaceful.
  • my own heart slowed down and then it raced. 
  • I wanted to run to him and kiss him before he got too far on the journey to Heaven. Before I would have to yell to him in the distance that was separating us...or maybe he would stay close for a minute so I could say goodbye quietly. 
  • How will I tell his dad, Shelbie, Sam.
  • I kept telling myself-they have things to bring him back.  They can bring him back.
  • God...can he come back?  Please, can I have him back?
It was crazy how many disconnected, bi-polar thoughts one can have in 55 seconds.  It was astounding how you can feel terror and peace at the very same moment.  I could feel we were surrounded by Heavenly Spirits.  That room was filled with spirits. 

Spencer was back to himself after a bit.  This was a monumental moment but we were both so disoriented. They just let him go once he was stable!  I kept thinking...how is it we are walking out of here?  My son just died!  I wanted to scream.  We passed people in the hall and they looked at us like it was just another day!  We looked normal.  We looked happy to them.  Spencer was even making jokes about dying and death and new beginnings, new birthdays...Factory resets on his heart!  

I wanted to yell in their smug faces...It's not what you think!!!  He just died!!  Don't you see, we are traumatized!  I just lost my son and we are walking out of the hospital...no monitors, no pills to ensure it won't happen again...nothing.  He could drop dead right now!!!  Why can't anyone see this?

I was getting angry and sad and scared and nothing seemed to make sense.  Why were we acting so non-nonchalant?  We actually had to rush to get back to Huntsman.  It was 12:50.  We met the others at the cafeteria.  We quickly said- "Well, Spencer's heart stopped for 55 seconds.  It was scary."  I wasn't thinking clearly.  I probably should have phrased things differently but why beat around the bush?  Shelbie completely melted down.  I did nothing to console her.  And here we are having a moment, crying outside the cafeteria on the top floor of the hospital and it's the lunch hour rush and we are crying and laughing and nothing makes sense and no one stops to notice us or ask if we were okay and still...I"m so disconnected from reality. 

I don't know how we made it through oncology but we did.  Somehow, I managed to switch gears and have a somewhat intelligent conversation with the doctor and the jokes about dying continued and it was the worst day of my life.   

We got home late Wednesday night and at 1:00am the trauma of the day finally caught up to us and it wasn't funny anymore and we sort of went into shock mode.  Yesterday was even harder and Spencer is not okay.  

I wish he had been in a horrific, metal twisting, high impact car crash with parts and pieces strewn about miles of highway. With one poetic shoe laying on the hot asphalt, 200 yards from his dead body. And traffic would be backed up for as many miles as the eye could see; that life for everyone would have stopped too.  And they would drive by and see the aftermath and they would be moved by something too.  And their life would have changed and then they would see him rise from the jagged edges of a torn up car and see a miracle and feel overwhelmed and share in the terror and mercy and the miracles. And all this because my son's heart stopped.  And there would be pictures to post and share and we could say...Spencer died here...but he came back!  And there would be something tangible to mark the moment, the event.  

Instead...it was just like this scenario in my head, except no one else noticed the horrible incident.  It was as if they drove on by, never missing a beat, too distracted to see the impact of the crash that happened so quietly and unexpectedly, in one dimly lit corner of a little room at a University hospital, to an exhausted mother who never left the chair upon which I sat, who can't even see how to possibly keep going.  

And the sad part is...I went through this with Spencer.  I witnessed it for him and will hold this moment with him, but I will never, ever know what he is feeling.  I will never know the trauma, the fear, the worry...the way he will be forever changed.  Together but alone.  Isn't this how life is?  I wish it wasn't this way.  I wish I could feel what Spencer is feeling.  I will never know what this moment was like for him.  That thought alone, makes me feel such sadness. 





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Monday, August 22, 2016

And then this...

I will go on the record to say that I have been through a lot of stuff.  A lot of crazy, random, stuff.  The stuff that one can hardly believe to be true but it is.

2003 was one of those crazy years.  I vacillate between trying to forget it and trying to accept it and embrace it.   Tonight, I feel a twinge of gratitude for 2003.

December of 2002 was not the kind of Christmas I was expecting- a gold key to my own apartment was my gift and the truck was loaded the day after Christmas and I was moving out.  My husband thought it would be best if we separated.  I was sick.  The kids were sick.  My marriage was sick.  Our whole world was in a shambles and he could see no way out.  I could find no way to fix myself or my kids.  I left kicking and screaming...literally screaming.  I left alone.  My kids were not allowed to join me...but before you get all worked up...this story is not about that part.

My first night in that apartment with one chair, one bed, one pot and one set of dishes was my hell.  I fell asleep in front of the front door on the vinyl, in a pile of slush and sand I had dragged in from the winter move. Little rocks embedded themselves in my cheeks and muddy water dehydrated itself to my hair.  I woke up to frost on the carpet.  I hadn't noticed in my collapse of tears the night before that I hadn't turned on the furnace.

I was completely alone.  Throngs of friends abandoned me.  Many more just lost touch.  Judgments against me were not in short supply.  I only saw my kids a handful of times that year.  I cried every night of the year for them. They will never, ever know the heartache I felt.

I had no job so the days were long and lonely and filled with the worst kind of anxiety.

At the time, our church was really pushing humanitarian service so, I signed up for that.  For 9 months straight, day in and day out, many hours each day, I  cut and sewed school bags out of old Delta Airline seat cushions.  I bound sisal rugs.  I compiled emergency kits for battered women and file folder games for children. Serving was my survival tool.

One afternoon, in early Spring, a flyer was left on my door advertising a writing class in the city.  I had never had much interest in writing but something urged me to sign up.  Two nights a week for 4 months, I attended my writing class.  At first, the assignments were difficult and my writing was stiff. The teacher, a well published author of more than 25 romantic novels kept telling me, "I want to feel your words; taste them.  Move me with your descriptions."  And so, in my angst of life, I wrote a piece that made her feel what it felt like to be abandoned and left alone that year.  She cried as she tasted my words.

It was in that piece of writing that I fell in love with words.  Words that witnessed my life.  Words that shared with a total stranger, the things I couldn't speak myself but so desperately wanted to be heard. They were more than heard, they were felt.  I spent that year writing volumes and volumes about my life; the pain I was feeling.  All I had to keep me company that year was my notebook and a pen.  

Writing became my thing.  When I can't sort out my head...I write.  When I am sad or lonely...I write.  When I experience deep and holy experiences..I write.

8 years ago, I set a goal that I wanted to be a published writer.  I have submitted articles here and there and have even been paid to write for some big companies like Hallmark, Animal Planet, Walgreens, Clipix and some smaller companies and even a Catholic newsletter.  I have written speeches for organizations like Relay For Life.

But today...this happened!

My submission I wrote for the 10th Anniversary publication of the New York Times Best Seller, 29 Gifts by Cami Walker was accepted today!  I was really quite surprised!  It will be a chapter in her new book that is set to hit the bookshelves in 2018!  Cami and her co-author said. "You have written a wonderful story- a true gift to the 29 Gifts community.  I love your fine tuning of beginning each year with a gifting round..."

So tonight, I am grateful for 2003.  I am glad that in the ashes of a life gone awry, I found a saving grace in giving and writing.  In the serving and giving, I felt some worth and above all, love from my Father in Heaven.  My life is richer because of it but not only that, I have a life because I gave away my loneliness everyday in 2003.  There were times that year, it was my quest to end my life.  More times than not, I would have rather been dead than live one more day away from my kids.

It was perfect timing to be reminded of this today; to see that God is a creator of goodness even when it seems nothing good will ever come from a horrible situation.  This year will certainly rank next to 2003 in difficulty and despair.   I don't always understand the higher ways of God and at times look Heavenward in curiosity.  This year has been a year of waiting on Him.  Waiting for things to change. Suffering but when suffering once meant something profound, it seems we suffer just to suffer.  I pray for the day when I find meaning to the suffering and the plodding along. It will come.  God will soon shed his merciful light... Until then, we will continue to give, serve and survive.

The last line in my submission to 29 Gifts read...

" I had gotten lost in my own life but in giving, was found. Sometimes, the love you so desperately need is found in the heart of a stranger because you took the time to care first."


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Monday, August 15, 2016

Happy Birthday

Shelbie turned 24 years old on Saturday!! You know what they say...where did the time go?





Watching the meteor shower

Her cake creation!  I am in love with making flowers!  They are tedious and so very time consuming but I love it!  They are completely edible too! 

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I was nervous about this birthday because she hates birthdays!  She hates that every year gets just that much harder.  Last year she cried all day and I really didn't want a replay of that.

Actually...it was a great day!  We weren't able to do much just because finances wouldn't really allow for anything spectacular but we had a great time all the same.

Here's a little fun fact...24 years ago, on the day she was born, there was an outburst of a Perseid Meteor Shower.  Of course, I missed it 24 years ago, and so did she but this year, it rolled around again!!  The next one won't be for over a hundred years!!

So, at 11:45pm on Friday, we headed to McDonalds for Shelbie's favorite 'breakfast' meal and then drove out to a distant road in the country to eat and watch the meteor shower.  It was breathtaking and amazing!  God really knows how to put on a great show!  We stayed out there, laying in the middle of the road until the time that Shelbie was born- 1:51am.  With perfect timing, a meteor flashed across the sky just before the clock rolled over to 1:52!  It was so much fun.  It was the perfect way to start out her special day.

On Saturday, we went out for lunch and then I spent all afternoon decorating her cake.  Her dad took us all out for dinner that night and then we came home and had a few friends over for cake and ice cream.  It was all very low key but really, just about perfect!

Shelbie had a great time and felt loved!  She has been a real trooper this year and has put up with a lot and has been as patient as anyone could possibly be in such a bewildering situation.

She is my soft place to land and an edge to lean upon.  She is more than my daughter, she is my friend and I'm so glad we get to journey through this life together.   Here's to another year of gathering light and experiences!

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Thursday, August 11, 2016

"Just because you have feathers"

A handful of times, I have been led to a book.  A book that changes my perception on life.  That happened yesterday.  The book I stumbled upon is yet another random book I never would have set out to read.  It's about economics, finances...creating a life.   It's called 'How Will You Measure Your Life?' by Clayton Christensen.

The first chapter is about an early theory on business he came up with after graduating from Harvard Business School.  He talks about why businesses fail and how small, inconsequential companies eventually overtake the big players in an industry.  He titles this chapter, "Just because you have feathers."

He correlates his theory to the early invention of flying.  Humans, in their desire to fly, assumed that the way to fly was to strap on wings, jump off a high building and flap their wings.   Of course, they failed miserably.  Just because they had 'wings' and 'feathers' a correlation to flying, didn't mean they would actually fly.  They didn't understand the the fundamental causal mechanism of flying- what actually causes something to happen.

Since our appointments two weeks ago that ended in a litany of questions and disappointment and frustration to spare, I have been consumed with the thought that there is a missing piece to this whole dilemma we face.  It makes no sense that the doctors can't match the symptoms the kids are feeling to the function and numbers in the test results.

So, I have embarked on my own studies and understanding.  I have asked around on the Dyskeratosis Forum I am a part just to see if our story of deteriorating health rang a bell to anyone else.  Sure enough, many shared the same story line that we find ourselves in.  The kids just can't do what they use to do, yet, there is no explanation from doctors.  A couple of young adults even just slipped away from heart and lung problems even though they were told their heart and lungs were okay.

I find that doctors,even the ones who specialize and thrive in the rare arena, still rely on the textbook answers and numbers.  They rely on what they see everyday, measuring one patient against the next.  It makes sense but does it?

Clearly in our situation, there is no measuring stick to measure a population of less than 500 people worldwide and even more rare, the mutation my kids have that is known to be shared with just 1 other person.

My other research included studying about telomere's and what their role is in health and aging.  Dyskeratosis Congenita is a Telomere biology disease.  My kids have about 1% of their telomere length left.  The more a cell turnsover or replicates itself, like hair, skin, nail, muscles, the gut lining, bone marrow, the cell gets damaged because there is nothing to protect it which is the telomere's job.

I read a study in using Duchenne Muscular Dystrophy as the model in telomere shortening.  The study explained that MD patients pass away even with seemingly normal heart and lungs.   The diaphragm muscle is what aids the lungs in doing their job.  Without that muscle, the lungs can't function properly.  This deterioration isn't going to show up on any standard lung function testing. The study tested the telomere length in children with MD and discovered that they too had extremely short telomeres.  Without adequate telomere length a person suffers from cell exhaustion.  That is what was happening in Duchennes.  The muscles were experiencing cell exhaustion and without a strong diaphragm muscles or heart muscle, the patients pass away.

I could go on and on about my studying.  I feel like this is an answer as to why the kids are struggling more now than they did a year ago. It's the telomeres.

What I don't understand is why this is never really addressed.  Why it takes a mom to spend endless hours trying to figure things out.

It was this chapter in the book that sealed the deal for me.  Medicine needs to think in broader terms and stop assuming they know.  When it comes to rare diseases, being passive and accepting is not going to cut it. Just because the numbers are in normal range, doesn't mean everything is alright.  If all the flapping and feathers in the world don't make it better...keep looking.

Yet...more often than not, the medical community just wants to keep flapping on about the same old stuff.  It's time we move beyond the textbooks.  I'm getting plenty frustrated about our situation.  It is not an easy life to hear daily upsets about not feeling well and just look them in the eyes with the most helpless feeling in the world and wonder what will comes next.


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Monday, August 8, 2016

When Nature Calls....

What a day...

I ended up having to be in a distant city for most of the day working with some clients on a remodel.  It threw my whole day off in a big way!

I'm on this 'diet' of sorts in yet another attempt to calm the Lupus waves of pain, so, I've been drinking 150 ounces of water a day.  I try to drink 100 of those ounces before 10 am!  Just kidding but needless to say, I'm making a lot of trips to the bathroom for my bladder that happens to be the size of rice grain.  It use to be bigger I'm sure, but then I had three kids who kicked the daylights out of it, laid on it and finally, tried to drag it out with them I think...I'm not sure though!

The morning was rushed and I just didn't have a lot of time to be spending on a run to the loo but when nature calls...So, I hurried and as I prepared to sit down...a spider!!!  Crawled...  OUT OF MY PANTS!!

What the heck?  A Daddy Long Leg!  How did I not feel that?  I clearly need tighter fitting pants. There were some impressive dance moves happening in my bathroom for more than one reason!  Geez.  I hate spiders!! I hate them so much even my words to describe my hatred of spiders, shrink in fear!   This set me 15 minutes behind on my 2 hour commute to work!  I was so bugged!  Seriously.

I tried to make up time getting to my client's home and really did alright but rather than take the time to unload my trunk full of tile, I just ran up to the door to greet them and get the latest on where they were at in their thoughts.  After our initial visit of catching up, I told her I would start bringing tile in from my car.

As I dashed out, still trying to gather my thoughts that were scattered in my whirlwind head, there, right beside my car was a snake!! A big old snake coiled up with his head up and mouth wide open!  Holy Cow!! I ran.  I ran so fast back into the house.  Inside, I was screaming for dear life but outside, I looked as though I was just filing my nails like no big deal...and calmly said, "Maybe I'll get those tile samples a little later.  There is a snake beside my car and I just don't feel like being someone's snack right now."

This poor woman..."There's a what?  Did you say a snake?"  Then she started screaming and yelling for her husband.  By the time he got out there, it was gone!!  I couldn't concentrate.  All I could think about was that darn snake all up in my grill, under my car, crawling through the vents.  On the long drive home, I was creeped out.  Spiders in my pants, snakes trying to eat me...what next?!!

What a day!  I didn't have to go to the gym tonight.  I figure my heart was racing most of the day so that should have burned a significant number of calories, and then there was that dance party in the bathroom and the sprint to the client's front door...I'm good all week in the exercise department.


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Thursday, August 4, 2016

The dull moments

I wish I could write just dull moments.  Moments when there wasn't anything but dull, boring, nothing going on.  A moment when all I had left to do on my to do list was nothing.  What does nothing consist of anyways?  I may never know.

We got some more results in on that late day CT scan Shelbie had last week.  The MA called and said her lungs were completely and totally normal...nothing.  No AVM's even.  No blood clot.  I was a little perplexed because the regular CT scan without contrast showed all sorts of problems with the granulomas and calcifications in her lungs and the Echo supported the diagnosis of continued AVM's that are shunting blood in her heart.

Last night, the email came through that the test results were posted in MYCHART so I jumped on there to read for myself.  The only thing the radiologist was looking for was the pulmonary embolism which is no longer there so she dumped that last November with her first stroke.  Glad it's gone!

 The radiologist noted a new grouping of enlarged lymph nodes in the precarinal, prevascular and infrahilar areas.  These are all areas in and around the lungs. There was also something strange going on outside of her spleen which I didn't really understand- even after reading about it.

Ahhh...there is absolutely no possible way in my mind that lungs full of abnormal growths aren't causing a problem.  I feel like screaming because no one seems to be caring as much as me.  We just get sent on our way for another 6 months and they will do all this screening again.  At what point, I wonder, do these things need to be dealt with.  Apparently not this month.  So, we continue to find a way to live with all this in the back or our mind...or the front of our mind depending on the given day.

I got a letter on Tuesday or was it Monday that said our insurance company had chosen not to approve the testing on Spencer's heart and lungs...the testing we already did last week! They said it wasn't medically necessary.  Of course, breathing and living isn't necessary but it is nice.  They mailed the letter from Chicago the day before our appointments!  What a pile of crap and a bunch of losers.   I wrote a little rant on Facebook, mostly to let off a little steam but I am seriously writing a more mature correspondence about what I think of them.  I have already spent thousands of dollars on things they refused to cover from last year.  It is so unfair.  They judge the necessity of these tests according to the average 21 year old, not the average 21 year old with Dyskeratosis Congenita.  If they stopped for one minute to read about his disease, they would see that these tests are extremely important to prevention of bigger problems like, oh, I don't know...double lung and heart transplant!  Would they like to pay for some new organs and rejection meds for a lifetime or some minor testing in comparison?

In other news completely unrelated...I was asked to submit a chapter for the second edition of the 29 Gifts book!  I was caught off guard when the author of 29 Gifts contacted me because she found my posts on Instagram about my own adventure with 29 Gifts.  I've been dragging my feet on getting back to her but I have to do this!  It has been a tradition now that sets the year off to a good start.  The deadline is August 30 so I have to get busy.

Just for fun...here is the Facebook Rant from earlier this week...yes, you can smile, even laugh!

 "Dear Insurance Company, I wanted to apologize for the things I may have said when I received your lovely correspondence regarding your opinion of the Cardiac testing my kids required this past week. I'm sure you didn't notice that you mailed it from the other side of the country the day before the testing took place. I had to laugh when you said you don't find irregular heartbeats, dizziness and passing out anything to worry about. I don't know why I over-react when I see my kid passed out on the kitchen floor. I'm just a Nervous Nellie I guess. Anyways, as I was saying, we inadvertently did the $8000 worth of testing because your letter just arrived today. Not to worry though, I have a rich Uncle in Dubai who said he would promptly send funds to cover the expenses. Also, I think it's great you employ inept people to offer them 'on the job' training for anatomy and the workings of the human body so they can practice making life and death decisions on my family. Way to capitalize on a poor idea! They were right in denying the lung treatments for my daughter. We have found that a paper bag and some rubber tubing from the local Farm and Ranch store works wonders! Might I suggest they start exploring WebMD? That's where I find my best medical advice...always. You might like it. I read somewhere on that website that not being able to breathe is a problem. You can't believe everything on the internet though. Take it for what it's worth! Oh, and for some reason, people fair better in life when their heart actually beats. I know weird right? Well keep up the good job!!"



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Tuesday, August 2, 2016

The long shadows

Last night, Sam and I went on a bike ride just at dusk.  The sun was quickly settling down on the edge of a 'far see'.

At dinner, I made the mistake of talking about two of his friends who leave on their missions this week.  I am going to miss his friends terribly!  They have been amazing in every sense of the word and, as a result of Sam choosing such amazing people to spend his time with, his teenage years were a piece of cake. Well, you know, they were riddled with tricky moments as well but his friends stood by his side.  They all towed the line.  They all, individually chose to be where they were suppose to be, to do what they were suppose to do and they all had a conscience and character to be good, solid teenagers who took care of each other and those around them.

Every day, I am impressed more and more by these friends of his.  On Sunday, I saw the two boys who leave tomorrow and they both gave me a big hug and told me how much they would miss me and miss hanging out at our house.  So, it is sad to see them leave to serve the Lord.  It brings up a lot of anxiety for Sam who is more than worthy to serve a mission but has a great deal of anxiety and worry over many real and difficult challenges he is currently facing with his health.

Because of this reminiscing, I think it stirred up the anxiety for him that he tries so hard to pretend doesn't exist and he was not a happy camper.  He was pretty grumpy.  I talked to him a little about the notion that sometimes being paralyzed in indecision is worse than just making the decision and moving forward.  We all do this.  We have a tough choice to make so we avoid it for what we think can be forever and spend that forever moment wringing our hands in an undercurrent of anxiety that pulls at us.

 After I got home from work, I noticed that he was working on a budget for himself.  He alluded to the fact that dealing with his finances is hard.  I was proud of him for facing this problem head on.  He makes enough at his job for his needs, or what I see are his needs but he thinks he needs more.  It was good to see him working out his problems on paper.

Sam and the long shadows of his day



I told him that I could see he was affected by our conversation earlier and suggested we go on a bike ride.  Sam thrives on activity.  Sitting around makes him crazy!  I tucked a few dollars in my pocket and when we got out on the open road, I suggested we ride to get a sno-cone.

It was a nearly perfect night for a ride.  It was 78 degrees at just after 9pm and the breeze was gentle and peaceful.  With every little jump and wheelie he did, I could see the anxiety melt away.   I feel bad for him.  His shadow was long on the pavement behind him and so it is in his life.  The time to plan his future is now, he is running out of time to decide on a few things and that is hard.  It's hard to see him grappling with this.

He finally seemed relaxed by the time we finished our sno cone and headed for home.  It was almost dark but we took the long way home anyways.  I just couldn't pass up such a perfect night and I love spending time with my kids.

Sam trying really hard not to smile! He has a stubborn streak for sure!


That may have not been the best decision given the fact I have zero vision at night and this town is opposed to light pollution.  People say your other senses kick in when one is compromised but I have compromised hearing as well so I pretty much had to Helen Keller my way home.  I couldn't even see Sam in front of me!  Let's just say black mailboxes have a way of sneaking up on you at night and the pot holes seemed to chide and laugh as I hit just about every one, tossing me off balance more than once.

We made it home and Sam seemed much better.  It's a challenging time for him that's for sure.

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