Friday, May 17, 2013

Eliah Update

Saturday, January 24, 2009

Eliah has been well the past couple weeks.  We did a follow up with his Hematologist, as well as the Geneticist.  The abnormal blood tests Eliah had in the hospital are still in question.  We are being referred to a Gastroenterologist next to discuss some of the nutritional deficits.  We will also be testing Eliah for Celiac Disease, a gluten allergy, which may explain his weight loss, extended blood clotting time, and some other issues. 

As far as Eliah's bones are concerned, we are assuming he was going through a growth spurt while we were in the hospital.  That could definitely cause his blood tests to be wacky.  And if you've seen pictures lately, you will be able to see that he is "advanced", to say the least, with his height.  I believe he is in the 95th percentile for height.  We will just keep a careful watch on those blood tests  in the future. 

Another concern for Eliah has been the potential for inhibitors, which is basically an immunity to clotting factor.  The earlier in your life you start with recombinant factor, and the more you take, the more likely you are to develop inhibitors.  We have been testing Eliah on a regular basis for these inhibitors.  Luckily, he has not yet developed them.  And according to the Hematologist, at this stage, if Eliah were to develop them, it would have already happened.  So we may be in the clear. 

The Geneticist had some interesting things to say as well.  He forwarded Eliah's CT scans and MRI's to MUSC Charleston, to a friend of his in the Neurology dept.  He reviewed the tests, and found Eliah's case to be very interesting, and wants to use him as a case study.  Which may bring other points of view into the mix, as well as the possibility of others wanting to research or study him. 

This is what they had to say though.  As we suspected, Eliah had spontaneously bleeding on his brain in the womb.  This, in turn, caused loss of brain matter, which explains his smaller brain.  Then, two subsequent bleeds on his brain after birth, which caused further brain matter loss.  All of which explain his developmental delay.  It is possible that Eliah has a particular gene mutation that triggers spontaneous bleeding, secondary to his Hemophilia.  Which one?  It may be 10 years, or never, when we find out. 

Good news is that, there are two cures for Hemophilia, and one cure (stem cell therapy) to cure brain damage to 100% capacity.  Although we are looking at many years away, the technology is out there.  And that gives us hope.  

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