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:
General Surgeon
Oral Surgeon

At least 5 new doctors...in addition to


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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