So...I am not good at writing posts very often but when big news happens I feel impressed to write.  In our last post Danny talked about Isaac's hypoglycemic episode in the hospital and how Isaac was being checked for Kabuki Syndrome.  To make a long story short, Isaac does not have Kabuki Syndrome.  He continues to have light episodes of hypoglycemia when his blood sugar drops but it only occurs when he is sick "usually".  Thankfully Isaac has been sick much less this year than last year.  Isaac is still growing quite slowly as he is now just barely fitting in 18 month old clothes but he is growing! Yeah!  He is also eating better without aspirating ( He unfortunately still aspirates thick and thin liquids.) And he is VERY close to walking on his own without his walker.  Our hopes are high that he will walk before his 3rd birthday in June.

A month ago Isaac was suffering from a slightly slipped Nissen and severe acid re-flux again but through more medication, a new diet through the g-tube, and getting healthy again he is doing better.  During that time his doctors talked about re-doing his Nissen but in the end they, as well as our family, wanted to avoid another surgery as to not impede his growth in any way. Isaac has gone through several more procedures to make sure he will be okay with an increase in medication only and no surgery.

Now for the BIG news.  When we found out that Isaac did not have Kabuki Syndrome, our insurance company finally agreed to do a very big test called Exome Sequencing.  This test took Danny's and my DNA and tested it for everything that could go wrong between the two of us.  It then took these results and matched them to Isaac's to see if any results of Danny and I could be matched with Isaac's DNA.  They also ran a full spectrum analysis on just Isaac's DNA looking for any known significant genetic mutations. Through this test and 3 months of waiting, we found out today, through Isaac's Geneticist, that Isaac has a Syndrome called Coffin Siris Syndrome.  Isaac's DNA has one gene, ARID1B, that when Isaac was developing, mutated causing malformations throughout all of his organs.  Neither Danny or I carry this mutated gene, so Isaac is a special and unique child.  The Syndrome has many overlapping symptoms with Cornelia de Lange Syndrome as both of the syndromes are in the same genetic family but Isaac has been diagnosed as having just Coffin Siris Syndrome.  Danny and I have began researching this Syndrome but we still have a lot to learn.  The syndrome is a form of dwarfism and possibly autism but every child has different spectrum's of each symptom so we have yet to find out if Isaac has autism.  Dwarfism, due to Isaac's short stature is very possible.  Isaac does have a lot of symptoms we have already explained in earlier blogs, such as, coarse facial features, eating issues, low muscle tone, multiple respiratory infections, failure to thrive, etc.  The few symptoms that are in question right now, that he does not have to our knowledge but may have are, kidney issues, more severe heart problems, and seizures.

 Isaac continues to be an amazing blessing to our family and we will be forever grateful to God for putting him in our family.  Currently he is doing very well and we pray he will continue to do so as we do everything we can to take care of him, although in all reality he takes care of us, as he makes us laugh, helps us feel needed, and brings us closer to our Savior in so many ways.  One of our family members recently said, "Isaac has the healthiest spirit in your family." And how true that is.