Sunday, June 29, 2014

The Fine Line

I am reminded again this week, that we walk a very fine line.  Maybe several fine lines to be more accurate. To be honest, I am done with fine lines.  I feel drunk and overhung on the past month; both emotionally and physically and nothing looks straight to me anymore and putting one foot in front of the other isn't as easy as it was a few months ago.

There has been so much in the news this past year about children being taken from their parents because the parents have been accused of causing medical harm to their children, even accused of making up symptoms and diseases.  I am not a judge and jury but I have had a hard time comprehending how that could happen and as I read their stories, I believe that the parents were doing the very best they could.  They were advocating for those children and sadly, fell into a system being choked out by egos and inflated positions of perceived power!

This week, I have been startled at our own little confrontations with doctors and can see how very easily things like this can happen.  When it comes down to it, I will always be the crazy mom.  No matter how kind I am, how submissive I can act, how far I dumb myself down,  I will never be seen as a partner in my children's care to some doctors.  When I try to be knowledgeable,and spend time trying to understand the disease processes that are affecting my children, it will likely be misconstrued as bossy, controlling, egotistical and even hysterical.  Hypochondria may even be a word that is uttered and I hate that word!!

This week has done a number on me.  Tuesday, we saw our Oncologist because of Shelbie's whole ITP hiccup, H-Pylori infection that appears to be back and we needed a re-evaluation for IVIG for the insurance company.   It would take another 12 pages to rant on about the visit we had so I will spare the details of that however, the word frustrating doesn't even come close.

For some reason, the doctor whom I have worked so well with over the past 7 years has taken a complete 180 turn and become much less considerate, compassionate and caring. I don't even know what happened.  It makes no sense to me at all.  Since the boys received their DC diagnosis, things have been different.

All of a sudden, he is treating Shelbie like she has nothing wrong with her than a couple of minor auto immune problems.  He even went so far as to say that he will no longer do bone marrow biopsies on her and continuing IVIG is actually hanging in the balance as well.  He seems to think now that every problem she has can fit under his little umbrella of auto immune.

When we began discussing the H-Pylori issues, he said he didn't believe she ever had it in the first place.  I explained that we had a positive blood test for the infection and classic, text book symptoms.  He argued that the blood test probably just picked up anti bodies from someone who donated plasma that Shelbie received.  He said, she probably just had pancreatic insufficiency and we should just start her on enzymes again!

That makes no sense at all...if she has pancreatic insufficiency again...it is not caused by an autoimmune process...it's caused by diseases like Cystic Fibrosis or Shwachman Diamond Syndrome and in some cases, Dyskeratosis Congenita.  Yet just earlier, he denied that she had anything but an auto immune problem.  He refuses to even keep her in the SDS camp until we figure out what is going on.  I questioned his reasoning but not in a rude way, just trying to understand.  I finally suggested that I would take her to the GI doc and get his opinion since he was clearly the expert in GI issues such as H-Pylori.  He didn't like that notion and then decided to order some fecal fat tests, fecal antigen testing for H-Pylori etc.

Her white count crashed on Tuesday but came back up by Thursday.  Her platelets were also up so that was good.  But, he isn't convinced that we need to keep doing IVIG even though without it, her platelets drop, and she gets sick.

Finally, as we left he said, "See ya in a year!"
A year???!!!  The kids are suppose to have their bone marrow biopsies in August/September.  Now, he doesn't think Shelbie needs one because of course...there isn't anything wrong with her...or so he makes it sound.

His attitude couldn't have hurt more if he had of just slapped me across the face.  In fact, I would of rather felt the sting of that.  I don't get it.  Just because she doesn't have what the boys have, doesn't mean she is magically better!  For 18 years we have done biopsies because things are never right in her marrow.  She steadily loses cellularity. She has gone from intermittent neutropenia to chronic neutropenia.  There has been no improvement in any area of her life so I don't understand how he is justifying a complete halt of these tests.  Even if her marrow failure is autoimmune such as Aplastic Anemia...bone marrow biopsies and aspirates are the gold standard so it can be treated with transplant before it becomes fatal.

I tried so hard to be kind.  To be understanding.  I asked questions to try to understand but his attitude was less than helpful.  All of sudden I am working with Dr. Ego.  I could tell he was getting frustrated with my queries.  At what point do you risk coming off like a witch in order to be heard?  At what point do you shut up and walk away, or stay to fight? If I stay to fight...I get the crazy label and then accused of all sorts of evil!  Is that a risk I want to take?

Some people, lots of people in fact,  have suggested I go back to him and smooth things over, apologize for my behavior...but I didn't misbehave!!  What am I apologizing for?  Wanting to take care of my kids? Wanting them to stay alive?  I have to apologize to him?  Not once has he acknowledged the challenges the past month has brought to our family.

I wonder if he has even stopped to think how completely overwhelmed I am.  I wonder if he has any idea that the smallest, tiniest thing sets me off?  I wonder if he knows how scattered I've become?  I wonder if the families whose children were taken from them this year for stupid accusations wish that maybe they had just remained passive and dumb?

It's a fine line.  It's not a comfortable place to be.

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Sunday, June 22, 2014

Not in the plan

We have had some interesting developments in the past 24 hours.

Earlier in the week, Shelbie noticed some petechiae on her arm.  They come and go in very small amounts but for the most part, we chalk it up to vasculitis, leaky capillaries blah, blah, blah.

Saturday, she was covered in petechiae and purpura.  We tried not to get alarmed but as they just kept coming and coming, I decided I better take her in today.

Right after church, I picked her up and we headed for a CBC.  The doctor found lots in her mouth!  Petechiae in the mouth is never a good thing.   Well, to my surprise, her platelet count was 125.  Not as horrible as the symptoms look.  The alarming thing is that just three weeks ago, she was well into the upper 170,000.

We aren't exactly sure what this means but my gut tells me that ITP is back.  I am pretty sure we will continue to see dropping platelets.  When she finished chemotherapy 4 years ago,  she was in the upper 200,000 and stayed there for about three years. It was heavenly!

We will be watching her closely.  Tonight she has even more spots from just a few short hours ago so that is not a good sign.

She is suppose to have her IVIG this week and that will give her a boost but how long...will remain to be seen.  4 years ago, we did IVIG to treat the low counts and they helped for a week or two and then they would plummet to 1.  It was after many attempts to fix it that we turned to chemo because we had no options left.

The thought of heading down this road again is sickening but, we will do whatever we need to do.  It would sure be nice to have answers for her like we do for the boys.  This will prove to be an interesting week.  Lots of doctor appointments and hospital stays.  Fun and games...

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Thursday, June 19, 2014

Burning up the day

I swear, it feels like months since we got the new diagnosis.  It's been barely three weeks!  I couldn't stand the thought of dragging around the day for one more second.

So, what's a tired girl to do?

Skip out on work...Call in sick...The dog ate my homework...Not doing this...

Yep, that's what we did.  I had a great appointment this morning actually, with a really cool client who has become a friend.  I enjoyed being crafty with her as we put together an awesome canopy of tulle for her beautiful daughter. We have many things in common and there is no doubt, our paths crossed for a good reason.  It felt so good to be away from a desk, a computer and cleaning supplies and do something halfway creative.

When I got home, I sat in the cool basement where the kids were and said, "Let's get out of here!"  I feel like we have an oxygen shortage around here.  I had to answer a couple of emails, finish a drawing but two hours later, we headed out to the Hot Springs.

There was nothing better than laying beside the sparkling water in the warm sun.  I couldn't remember the last time I actually laid down and didn't think about one single thing.  There was no phone, no text messages, no interruptions.  I laid beside the pool, the sun burning through my pasty, winter white skin, while Shelbie and Sam floated in the water beside me.  We covered all sorts of random topics and just relaxed; laughing and enjoy the afternoon.  For two hours, we did absolutely nothing.  It has Heavenly.

It was good for the soul.

Now...it's a full night of work but so worth getting behind!


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Wednesday, June 18, 2014

Hello...

It's been awhile since I stopped by here...it's been a while since I wrote anything, anywhere!

 I remember doing this in 2007 when Shelbie started her 9 months of chemotherapy; I retreated to my own little world.  That entire year went un-mentioned on the blog or any journal I own.  It sucked the life out of me.  Now I regret that I didn't write about that year.  It would have ended with us surviving one of the scariest years of my life.

I'm sure this year will be much the same, we will survive.  That's what we do. Survive.  Like a wave of trouble, we are swallowed up but it doesn't take long to surface again, we bob to the top, gasp for oxygen, sputter out the bitter, salty taste, straighten our shoulders, check to make sure we can touch the bottom and swim on.

Honestly, I've been hesitant to write because my feelings are still so mixed up and they swing like a pendulum from being completely numb to totally overwhelmed.  My post following the last one, I wanted to be happy, upbeat...'We Got This' kind of thing but I couldn't figure out how to do that with any degree of honesty so I just scrapped the idea of writing altogether.

I know some may find this hard to believe but the girl who stays up till all hours of the night researching medical issues, hasn't cracked a page on the World Wide Web since that last Friday in May.  I haven't scheduled one appointment I was asked to schedule.  I haven't made any attempt to contact Seattle and get the kids' appointments there.

Mostly, I have just tried to get through each day, trying to keep this family from toppling.  Mostly me, I guess. The kids are handling things way better than me.  Spencer still has no idea what he is facing.  Sam doesn't understand most of it and that's actually a blessing.  There have been a few days that I cringed at the sound of "Hey mom." or "Mom"...I just sort of looked at them blankly, wishing and hoping they weren't going to demand anything of me...no snacks, no meals, no support.  I couldn't muster one little thing.

I have to find some energy some where to get back on track.  I have to get these appointments scheduled.  AND....I believe we have run into a glitch with Shelbie...She has what they think is a Glomus Tumor on her finger.  We are following up on that with a team of doctors, literally 8-9 doctors in one office on the 26th of June!  It's so rare, the Dermatologist wants several specialties to look at it and come to a treatment plan together so she arranged all that for us.  It's pretty amazing really.  She had a cortisone shot two weeks ago to see if that would help with the pain but no such luck.

The dreaded H-Pylori is back for Shelbie!!!  Ugh...The treatment was so terrible and obviously didn't work the first time so it's anyone's guess what they can do now to treat it.  It could get serious quickly so we really need to figure this out.  Given her very poor immune system, I feel like we are up against the ropes.

There is one thing I have appreciated about the past two weeks...Not writing or talking to anyone has really given me a sacred space to work some things out with God.  To come to some understanding, to see how the past has prepared us for this and more still to come.  I have had to rely solely on prayer and pondering to get through some really hard moments.   We are blessed, without a doubt, we are blessed.  We are watched over and feel the presence of angels in our life.  All of that is a welcome contrast to the harshness and loneliness lessons of mortality brings.  I have also come to a much better understanding of the whole line upon line principle.

How short sighted of me to think this diagnosis would be better than what we thought we had...Life is about line, upon line...one experience builds and prepares us for the next.  The next one will be built upon the last one, lifting us higher toward Heaven. We will use our new tools with each new lesson and add even more tools to our coping box of life.  For some reason, I forgot this...I was thinking it was line MINUS a line...that since we have been at this chronic illness thing for so long, whatever the news was, we would easily manage because we were Veterans.  Nope, we have a lot more growing to go so it's line upon line...in some ways, that is a very unsettling thought...in others, it brings Peace that we can actually do this.



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Thursday, June 5, 2014

This week

This week...is hard.

This week, I feel like my hollow body is filled with concrete

I feel like I have all of a sudden developed a raging case of Attention Deficit

I can't figure out what to do and when to do it.

When I do have something to do, I feel like I am swimming in pea soup.

People talk to me and I can hear them and see them moving their mouth but I am brain dead.

I feel dead.

My senses are all on high alert.  On Tuesday, we had to drive into the city for a Dr. appointment and I was driving behind a Semi truck when his back tire blew out!  It was the biggest bang I have ever heard!  I slammed on the brakes and ducked!  Thankfully, there was no one too close behind me.  There was rubber peeling off that tire and flying through the air.  Even though I had created quite a bit of space between me and him, we were still getting pelted with flying debris.  He just kept on driving and smoke was pouring out from his axle.

After the doctors appointment, we went through the Wendy's drive through.  My window was down while we waited and worker came around the corner dragging a garbage can!  I jumped so high I about hit the roof of the car!  The guy apologized profusely.

Tuesday, I also had an appointment for a mammogram and ultrasound.  I have a gazillion cysts and some calcification but the radiologist said not to worry, things were stable.  Well, yesterday, the clinic called back to say the Radiologist wanted to see me again and re do part of the test!  In the 12 years I have been doing this...I have never had a call back.  Of all the weeks!

Yesterday, I had to have two small procedures done!  All of this was planned before I knew about the conference call, so that kind of sucks!

So, that's me..on edge!  On edge and behind on work.

The kids have been bouncing all over the place with emotions, nothing horrible and I just sort of stare at them, listen and hope I don't have to do much to help them...that sounds horribly selfish!  I am just so tired. Exhausted.  I have tried to go to bed earlier than usual and my eyes are heavy but I can't sleep.  I wake up more tired than ever.  Pepsi is my friend these days.

I know if I could just sleep, I would feel so much better!

We are all just in this funk.  So much to do, so little desire to do it.

I can see my biggest challenge this summer is going to be to keep these kids busy and active. Not quite sure where to start with that...

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Wednesday, June 4, 2014

Perfect timing for a perfect plan

July 31, 2013

There is so much to process.  It's not just about a new disease.  It's about the old disease, where we've been and where we are going.  I am still overwhelmed.  Totally overwhelmed which isn't a bad thing but it sure isn't very fun and not a good thing either.

I have tried to remain focused on what is right with life right now, instead of what is wrong and what the next year holds for us, the next 5 years...the next 10.

Some of the astonishing feelings comes straight from Heaven.  I have spent a great deal of time just pondering the past few days, like the past few 16,425 days.  I was born into a stressful situation.  I was born with a condition called congenital hips which caused my legs to be backwards.  At the same time, shortly after my birth, my mom was diagnosed with Non-Hodgkins Lymphoma.  I was born into trials and that has set the tone for my life...a blessing maybe.

I have never really known anything but trials.  As a teenager, I was the loner, the geek, the nerd...friends were few and far between.  I just didn't fit in anywhere. In my attempt to not feel so alone, I turned to service.  I became friends with a girl named Dana.  I have written on many occasions about Dana.  She had Cystic Fibrosis.  For 5 years, I would visit Dana in the children's hospital where she lived most of the time.  It was a 45 minute drive into the city and I made that drive everyday.  People thought I was visiting Dana to be nice and while it was a nice thing to do she really saved me!  She literally saved me from a very lonely existence.

It was in this relationship that I came to know suffering and disease.  I became familiar, even comfortable with hospitals.  It was Dana who taught me to laugh in the face of fear!

One very early morning, I drove into the hospital to be with her for a very serious surgery.  I wanted to help her get ready.  You see, she had sent me on some errands to buy some bright red lipstick.  We then proceeded to write all over her body, goofy instructions for the surgeon.  Her and her doctors were always playing practical jokes on each other and this was just one of Dana's ways to get back.  It was the first time, I saw someone laughing on their way back to surgery!

Dana was the most special gift I have received.  It was Heavenly Father, gently preparing me for what would come next.   As I look back, I can see how every trial, every hardship was timed perfectly to prepare me for the next big thing.

I can look back and see the path clearly that has led me this much closer to Heaven's gate.

Now, as I sit and wonder, I can't help but think of the timing of this news.  Why couldn't they have found the gene 5 years ago, 10 years ago, even a year ago?  Wouldn't that have been better, we wouldn't have lost so much ground?

Well, here is what I have concluded...

  • We weren't ready for this until right now.  We needed all the other hard things...all the life flights, the CPR, the transfusions, the countless biopsies and numerous infections.
  • I believe we needed to live with Shwachman Diamond Syndrome to prepare us for something just a little bit bigger. 
  • It was through SDS that the Spirit was able to lead me to Dr. Shimamura- the leading doctor in SDS but...she is also the leading scientist and doctor in Dyskeratosis Congenita...That is not a coincidence!
  • The disease is only 13 years old!  
  • If we had found out this time last year, there is no way the doctors or the church would have let Spencer serve a mission.  It was his dream to serve a mission.
So then I wondered...why do I have to handle this when Spencer is gone?  It would be so much easier if he was home.
  • Spencer's mission is the best way to prepare him for Heaven.  I'm not saying that I am planning on him dying anytime soon, I'm just saying that his faith in God, the glimpses of eternal happiness and joy he has witnessed, his service to others has set him firmly in the trust of Heavenly Father and Jesus Christ. He has often said that he feels like he is preaching the Gospel in Heaven and if that is what Heaven is like than he ready to go!  He wouldn't be able to have that perspective without this mission.
  • With Spencer gone, Samuel has had to grow in responsibility and faith.  He sees the love and support from his brother and that strengthens him.  He has also grown much closer to Shelbie and that is a special thing to see.  
There are still plenty of things I am trying to make sense of but I am grateful for this much understanding.  I am grateful that I can see that everything happens for a reason, for our happiness.  I don't know where I would be without the belief I have of a loving Heavenly Father, his son Jesus Christ and the guidance of the Holy Ghost.  

I am blessed.  I have been blessed to go through this journey with the best children a mom could ask for and trials that have recently become my greatest, cherished possession.  It hasn't been easy, it isn't easy...even with this knowledge.  

This is the hardest thing I have had to do.  I still have overwhelming moments of the deepest fear ever!

But line upon line...we keep going, most of the time with a smile.



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Tuesday, June 3, 2014

Before You Forget

(This is a letter I wrote to myself in the early morning hours of Friday, May 30th.  The day we received our new diagnosis of Dyskeratosis Congentia- After this post, you will find a lengthy explanation of what Dyskeratosis Congentia is)

Dear Kath,

 Do you remember some 17 years ago, sitting in the CF clinic, in the GI department at Primary Children's? The sweat tests had been done, intestinal biopsies done, tubes and tubes and more tubes of blood had been drawn.  Specialists had been seen and now, it all boiled down to one single, flimsy, white sheet of copy paper.  Your trembling fingers grasped the edges of that paper as you tried to read the words of a fatal fate that seemed to slip off the page with each shake.  You were brave.  Tears never leaked from your eyes.  They tumbled back down into your heart, leaking through the cracks and crevices already forming.

"Your children have pancreatic insufficiency and neutropenia.  There are only two diseases that cause pancreatic insufficiency;  Cystic Fibrosis and Shwachman Diamond Syndrome.  Their sweat tests are negative.  Because of the abnormal blood counts we believe your children have Shwachman Diamond Syndrome, not CF.  We will wait for a couple more tests to come back and we are consulting with specialists in Toronto but in the meantime, read this.  Become familiar with it."  Casually, they handed you the thing you have cursed and loathed every moment since then yet approved of with gratitude.  Remember?

Do you remember reading those brief paragraphs outlining Shwachman Diamond Syndrome?  You still have that obscure piece of paper.  It took you all of 30 seconds to become familiar with it, they were describing what you were already well acquainted with...your own children.

It was a private moment of the most striking grief.  A grief that couldn't be shared; a grief that plunged all understanding and sense to a dark place.  It was impossible to imagine that life could go on.   Life became less engaging and whatever it use to be, was exchanged for a sideline perch on the look out for death.  Around every corner, over your shoulder, on the heels of anything happy, you looked for death to come and cast its dark shadow.

Eventually, you joined the ranks of 'normal' and 'ordinary' though far less normal and ordinary than you cared to acknowledge.

Last night, I saw you visiting those places from the past; where the path of this life you know now crossed and collided so unexpectedly into the perfect life you wanted; thought you deserved.  In just a couple of very short hours, you will be set with all the careful certainty of science on a new path, not far from the one you've been traveling but new all the same.  It is going to be hard to finally hear the words you have been fighting to find. No one will understand the striking grief you are going to feel again, yet hide so gracefully.

So, before you forget...as that flimsy, obscure report of seemingly fatal proportions is placed in your hands...

It's going to hurt.  Feel it. Acknowledge it.  Embrace it.

It's going to be big.  Bigger than you can contain.  Let it spill out around you, it's forging a new path for you and your mighty children.

Watch it.  Watch the wonder of it all in the very moment it happens.  In a few short seconds you will see the culminating works and miracles of God and His timing. You will see the pioneering strength and sacrifice of your children; their perseverance and courage.

It's going to feel impossible and nothing will seem as it should be.  The world is not going to stop for you to mark this moment.  This is your moment and yours alone.  Beyond the window where you sit, people will be carrying on, soaking up the sun, enjoying the day, celebrating, carelessly eating pizza and frozen custard cause that's what normal people do.

Life goes on.  It may feel like it has fallen off it's axis but it goes on.  Someday, in the not so distant future even, you will feel normal again and maybe even ordinary.

So how is it that you will actually survive whatever this day brings?

It's in God's Hands.  You are in God's hands.  Your children are secure in His hands.

Without a doubt and you said it yourself...there is a reason why it took 22 years to find the gene.  There is a reason, your kids are still alive.  There is a reason you needed to learn so many hard things.  There is a reason life has had to be hard for you...

That reason is Joy!  Without all this, you would have never embraced life the way you have.  You would have never known just how capable and caring you could be.  Without all this..there is so much you would have just taken for granted.  This crazy, messed up life of yours has been a gift.  God does know how to give good gifts to his children.

So, before you forget..

"His purposes will ripen fast, unfolding every hour
the bud may have a bitter taste, but sweet will be the flower."

Watch for the miracle...watch for Him...He'll be there, in the very details!

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Dyskeratosis Congenita- Part 1

I hate these words.  I hate that I even know how to say these words.  I hate that I know how to spell them like a spelling bee champ!  I hate that I know what it means...

Most of all, I hate that those two words have now defined all the problems my boys have ever faced!  I really liked it when we didn't know...I thought I did anyways. Why have I spent the last 22 years fighting for this day to happen?

HOPE.  I guess when I think about it, it was hope.

I HOPED we really weren't dealing with Shwachman Diamond Syndrome, though it was a good fit for all the symptoms we had.

I HOPED that the doctors had just made a mistake, it was really just a random bone marrow issue without lasting consequence.

The door was left open for HOPE.

Friday, I knew the diagnosis that we would be given.  I should have been prepared, better prepared mentally.  The truth is, the past nine weeks, I hardly turned the pages of the internet to read all about it.  I had HOPED that maybe the clinical testing wouldn't match up with the testing found in the research lab.  I can see now that I was so far into denial...

When Dr. Shimamura said the words...I felt nothing.  But then, she went on and on about what we may or may not expect and I felt everything at once...even things that had nothing to do with Dyskeratosis Congenita!  Things like...how will I do this alone, how will I work and take care of my kids, how will I pay for all these medical expenses, when will we go to transplant, where will we go to transplant, when can I take a nap...Here's the run down.

High rate of Leukemia
High rate of solid cancerous tumors
High rate of skin cancers, mouth, throat, tongue,colon, pancreas and gut cancers among others
Pulmonary Fibrosis
Eye problems
Heart problems
Liver Fibrosis, Cirrhosis
Bone marrow failure
Immune failure

That's the short list. The boys have all but the top three.  Liver enzymes come and ago into the normal range.

We need to add to our team of specialists:
Ophthalmology
Cardiology
General Surgeon
Oral Surgeon
Pulmonology

At least 5 new doctors...in addition to

Gastroenterology
Oncology
Hematology
Neurology

The boys will need yearly biopsies at least on their marrow, at times, they may need to be done more frequently and endoscopies and colonoscopies to check for cancer.  She urged us to remember that the sooner we catch the cancer, the better our odds of fixing it. She also said that we no longer have the luxury of taking the wait and see approach...for anything.

Just to clarify; only the boys have this genetic smorgasbord of misfortune.  Shelbie's buffet is altogether different.  She has the bone marrow failure but is riddled with some pretty major auto immune stuff.  They have no idea what to do with her.  All they can tell me is that she has a different, genetic disease, obviously with an autoimmune component!

How does this happen?  How do my three children have two different orphan diseases?  I can't even wrap my head around that and no other children in the extended family are sick? Just mine?

I use to be so grateful that I had three kids with the same disease.  I use to look at parents who had to manage a healthy child and a sick child.  It would be so hard!

Now, I know...it is so hard!

Samuel and Shelbie came to the conference call.  I didn't want them to but they are basically adults and have a say in their health.  It was a two hour long meeting!  Two hours of nothing happy.

Towards the last half hour, they addressed Shelbie.  At this point, she was freaked out!  From there, anger set in from feeling like she hadn't been heard or understood and so did screaming and crying and hopelessness and despair.  I sat there and didn't know what to do to help her.  She was so sad.  It was a mess.   She finally stormed out of the room.  I sent Sam after her but she was long gone!  I picked her up later at a park.

Sadly, we set up camp and hung our hat on the post of Shwachman Diamond Syndrome.  It felt so right.  We were just waiting around for them to confirm that we had a mutation of it.  For Shelbie's whole life, she was told she had SDS.  She was told that kids don't usually make it to adulthood...Granted, they changed their tune once the gene was discovered but the damage for her had already been done.  She lived her life on a time frame that ended early. Now, who knows...

22 years later, to say..."We actually don't know what you have, where you fit, what this means, how long you'll live..." is like your parents coming to you and saying..."OH, by the way...You aren't really our kid and we don't really want you anymore."  It's kind of displacing.   Same for the boys...the shift we all have to make is incredible!! Unbelievable!!  In some ways, for good or for bad...SDS became part of our identity!

Clearly, if I could do it all over with the knowledge I have now...I never would have let us get so settled in the clinical world of SDS.  I would have kept it to general terms like 'bone marrow failure'.  But I didn't, and doesn't look like we are getting a do over! And...I'm having a hard time forgiving myself.

So, what now?  Well, for the most part, we need to get on track with lots of testing.  DC as we will now fondly refer to it...masquerades as SDS and vice versa which is why it was so hard to diagnose.  Adding to the complexity is the fact that the boys have a brand new mutation of DC; only three families in the world have been reported to have it.  Only 200 people world wide have Dyskeratosis Congenita or have been reported at least!!

I will say this, I can clearly see how much better this diagnosis fits than SDS.  It explains so many mysteries.

Shelbie is doing better.  Sam is doing better.  He looked like a deer in the headlights when we left the office on Friday.  I was having a really hard time getting Shelbie calmed down and taking care of Sam's emotions too...and my own...and worrying about what to do for Spencer...and keeping it all together, putting on a strong front...being the shock absorber!

It has been a thermonuclear kind of week...it's only Tuesday!  The grief has been striking and very personal, not to mention deep.  There is so much more to say... but this is a start...less emotional than what's coming.






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