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. 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.  



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