Tuesday, February 21, 2017

You have to wonder...

This weekend, I couldn't help but think what I did wrong to end up with such sick kids. I look at their cousins who are completely healthy and normal and it hardly makes sense to me that we are in this place.  I must have been a terrible incubator and egg donor.  Gah!

I finally mustered up some courage and will to email back the 7 world renowned scientists and doctors in the Dyskeratosis Congenita world.  I was shocked to hear back from two of them first thing this morning- Dr. Bertuch and Dr. Gadir.

I sent them a long winded email about Shelbie's history and the things we are facing with Sam and his brain abnormalities. They both offered some interesting thoughts.  Dr. Gadir spoke of a very new genetic disease that affects the immune system, bone marrow and telomeres.  In the literature, two patients have been described with this disease who have chronic strokes, vasculitis, systemic inflammation and lymphadenopathy.  Sounds so familiar!  Ugh... There is a genetic test we can run on this as well.

Dr. Bertuch also suggested we revisit the genetic testing with total exome sequencing on the whole family.  That is currently being done for us at NIH.  Her theory is that we are facing at least two different genetic diseases.  Interestingly enough, this isn't the first time I have had this discussion.  NIH agrees that there is more at stake here than just DC.

In light of the progression of Shelbie's issues and now Samuel's brain manifestations, they aren't typical findings in DC alone.  Something else is wrong.

We are on our way to Utah again.  Tomorrow, we have Oncology clinic at Huntsman and will meet to officially discuss the bone marrow biopsies the kids had.  I have had the basic email reassuring me that the boys are stable.  Of course, Shelbie's marrow dropped significantly in cellularity so we will discuss that more and this new disease that Dr. Gadir suggested we test Shelbie for.  I'm also hoping we can resume Sam's brain testing while we are there.

Because I still have one thread of sanity left, Shelbie and Spencer fly out to California on Thursday afternoon for a photo shoot of a wedding they've been hired to do.  It's like the blind leading the blind.  Send the kid with the bad heart to take care of his sister with the bad everything else. Hopefully they don't pass out, seize, stroke etc. at the same time!  If they could stagger their blackouts, that would be ever so helpful.  Every day is an act of faith anymore.  I am learning to leave them in God's hands but that doesn't mean I don't go through waves of worry and anxiety...being the weakling that I am.  They will be gone a week! It'll be a long week without them.

The past few days have been so hard.  Shelbie's been pretty sick and we have to do infusion tonight since she will be gone the rest of the week.  Here's to another trip to Utah on just minutes of sleep.  I'm so exhausted, I actually considered online dating.  Maybe I could find some rich, old, retired Oncologist or Neurologist who is so lonely he wouldn't mind hooking up with the likes of us.  I could take really good care of him in exchange for some financial, emotional and physical help! The thoughts of dating were starting to scare me so I took a nap.  I'm feeling much better now. That was a close call!  My mental stability is questionable when I start thinking a man is a solution to my problems!  Geez...I'm good now, so that's a relief!


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