A developmental evaluation did prove he was about 12 standard deviations behind for his age.  His developmental doctor referred us to a geneticist for review of Chase's medical history and to follow up on the PHA diagnosis.  At the same time we were referred to a hematologist because of his consistently abnormal bloodwork.  His platelets were almost 1 million, he was anemic, had metabolic acidosis, an elevated WBC, and all of his kidney functions were outside the normal range.  His sodium remained on the low end of normal and his potassium on the high end of normal.  This is also the time his first high blood pressure was documented.  A further look at his anemia with an iron profile showed he was completely depleted of stores in his blood.  The hematologist put him on high doses of iron and has been following him closely since.  The geneticist was very thorough and confirmed the PHA diagnosis based on clinical criteria.  Blood samples were taken (this was a horrible process Chase had to endure) and genetic tests were conducted in Weisswasser, Germany.  Since then, Chase has been hospitalized twice for a total of 9 days.  He also underwent 2 cystic fibrosis sweat tests.  Both of which he had a bad reaction to and sustained chemical burns.  The administrator said she had been testing children for 27 years and had never seen anything like it. The test results came back normal. 

The GI doctor decided to do a colonoscopy and found large ulcers lining his colon, which we think is the source of the blood.  Preparing him for this was horrible.  It was an inpatient preparation and the enemas he had to endure caused blood clots to pass from his colon and just fall out of him on the sheets in his crib.  I think that was the most pain I have ever had to see him in.  After the colonoscopy, the GI doctor who has been practicing for almost 30 years apologized to us for saying all this time Chase had enteropothy and allergies.  He then told us he had never seen anything like the ulcers and promised to consult with other GI doctors and look into the effects of PHA on his colon before our follow-up visit.  We had so much hope and thought finally, someone was going to put some of these puzzle pieces together for us.  Well...he didn't.  At the follow-up appointment, he began talking about allergies again. 

Waiting to be admitted for dehydration at 10 months.  Like I said before...he smiles through it all :)