Seattle Reports- part 1

Finally made it home after sleeping only 3 hours the night before we left and driving from 7am til Midnight!  An exhausting day!  I don't recommend driving that long on three hours of sleep!

Wanted to report on our Immunology visit this week.  As I mentioned, I really liked Dr. Torgerson.  He was engaging and spent so much time teaching me.  When I understand the process of something, I can ask better questions and take better care of my kids instead of blindly following what a doctor says just because he says it.

Here is the nutshell version of what is happening with Shelbie.  Basically, she has major Autoimmune problems.  Her body is destroying healthy, normal cells because it thinks they are the bad guys.  She has bone marrow failure which may or may not be related to an autoimmune disease.  It appears that it is actually a separate issue but we have moved forward with more specific testing which may shed some light on it.

I love how he described the job of Neutrophils.  Neutrophils are white blood cells that move through the body, eating up foreign bodies such as viruses, bacteria, fungi, things that will cause harm to us.  Once it gets full, it throws it all up onto itself then travels back to the lymph system or 'The Singles Bar' as he referred to it.  All the immunity gathers there and they take a look at what the Neutrophils threw up to see what they are dealing with and what needs immediate attention. From there, the army of helpers is dispatched.  A normal Neutrophil also makes bleach and drops a trail of that around as it goes about its business cleaning up.

Sometimes, a Neutrophil has a hard time doing its job and becomes slow or doesn't produce the right amount of bleach.  These are mutant Neutrophils.  They can actually count the number of mutants and the number of healthy Neuts.

Shelbie has both slow Neutrophils and Mutants, with two Nuclei.  These guys are basically useless.  We aren't sure the exact numbers but that is what we will be exploring.

We talked about IVIG.  Our doctor here is trying to get us to taper it.  He believes Shelbie's immune system has become dependent on it.  Our doctor in Seattle disagrees.  Her labs consistently come back with mutant cells and still no B cells.  Until she at least starts making B cells again, stopping or tapering IVIG is not going to happen.  In fact, He talked about having us do it once a week!  Not once a month!

He also believes that her immune system is getting fired up and ready to attack her platelets again.  We have seen a downward trend in her platelets and as her platelets go down, her White count escalates and so do her Neutrophils.   He said Neutrophils generally rise in Auto immune patients before an attack.  In theory, the IVIG should hold her steady but there is a chance it will overtake her system even with IVIG.  It's just a waiting game.

Then came the Dykeratosis Congenita diagnosis.  He believes that Shelbie may actually have a DC mutation that has not been pinpointed yet or manifesting itself.  Because she is a girl, she has two X chromosomes.  One good one and one mutant one because I have one mutant one.  The body decides which X chromosome is going to be in charge, the good one or the mutant.  Usually, the good X takes charge and the girl is only a carrier of the mutant genetic coding.   Sometimes, one X controls some things and the other X controls others.  Often when this happens, the disease doesn't manifest itself as it normally would.  He gave us lots of examples of carriers who were fine for years, then all of sudden became ill with the disease.  He could actually look at the cells and determine which Chromosome was running which cell, the mutant one or the good one. It was all so fascinating.

Basically, DC is back on the table for Shelbie.  It is possible that the mutant chromosome is controlling her marrow function but not the lung functions, for example.

We also talked about quitting the bone marrow biopsies for her.  Again, he didn't feel like this was a reasonable thing for us to do given the amount of abnormalities we are seeing.  For the past year, Shelbie has been having lots of Petechiae despite a decent platelet count.  We have just chalked it up to Vasculitis, or her connective tissue disorder.  Again, he doesn't think this makes a whole lot of sense.  Her clotting time is way off.  This is a red flag that her platelets, though okay in number, are not functioning properly.

None of it was good news.  Not by a long shot!  But, the fact that he took so much time to listen, educate, and wonder about his own questions and things he wanted to research, made all the difference in the world! We signed up for all of the studies that were offered to us.  We may come up empty handed but maybe not.  5 years ago, it was a long shot, but through all the tissue we donated, we found answers for the boys.


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