Thursday, April 28, 2011

"Medical" Detective

Today was my son's hematology appointment.  I've been sort of waiting for this appointment, because I think this is the key that will unlock the door to answers to why things happened in February with his endoscopy.

As mentioned in one of my earlier posts ... I'm a type of person who needs to know the "WHY" things happen, in addition to "HOW" things happen.  So I did some research, as much as I could given my limited availability to resources.  I come to find out that what I retrieved while researching is pretty much the same thing a doctor retrieved doing a similar "search" on behalf of my son.  I found one medical case report written about a man in Greece who has Noonan's Syndrome and had essentially the same post endoscopy biopsy problem as did my son.  A hematoma in the duodenum (upper portion of the small intestine).  This gentleman had an abnormal platelet function.

Not many doctors are familiar with the many complex medical issues that can result from having Noonan's Syndrome.  When my son was in the hospital, we mentioned to one of the doctors following his care and case that people with Noonan's Syndrome have a high probability of having various bleeding disorders.  Meaning, their ability to clot is not as optimal as a "normal" person.  I asked if this could be the case for my son.  So a team of hematologists were brought in to examine my son and they ran some blood work.  Low and behold they find that his platelet function is a bit off.  Actually the one measurement was pretty significantly off.  Since he had lost a lot of blood and his counts were low, they told us that it could be a function of his blood count and the fact that he was highly anemic at the time.  They suggested that he be retested once his body recovered from the "trauma" of the hematoma and all the blood draws.  My son had a platelet and blood transfusion shortly after the initial platelet screening, so we had to wait 10 weeks for further testing until his body replaced what was given to him by the generous blood donors.

Fortunately, I have the ability to read my son's medical records online.  I did some research and I knew in my heart that my son's platelet function wasn't really a function of the endoscopy complication, but I intuitively felt that his endoscopy complication was a function of a platelet issue.  I've been holding my breath for today to see if my "medical" detective work was spot on.

In talking with his hematologist, she strongly believes that a platelet function issue is our culprit.  It makes sense for many reasons.  He's always been an easy bruiser but not excessively to the point that warranted advanced blood screening.  I did mention the easy bruising to his pediatrician and she did run a few blood work tests on him and everything seemed fine.  I don't believe she ran the platelet function test at that time.  My son received a transfusion roughly 10 weeks ago - I just noticed within the last couple of weeks he's bruising again.  This would make sense as his body is now manufacturing and working off of his own platelets instead of donor ones.  I think the hematologist was thinking the same thing.

I must say, I absolutely loved the hematologist.  She had an excellent bed side manner with my son.  Yet she was able to speak to my husband and I in a manner that helped us understand hematology in relation to our son.  I think it helped too that I had done a fair amount of research weeks ago so I knew what types of questions to ask.  And what types of things didn't seem "right" to me regarding my son's health.  I was happy to find out that the hematologist and our son's G/I doctor are pediatric colleagues of the same Clinic and know each other very well - so they will bounce things off of each other, I'm sure of it.  So I'm feeling confident we'll get answers.

I prepped my son for the possibilities of "ouchies" (aka blood draws) today.  Fortunately for him, the doctor wanted us to do the blood draws at the main campus instead of at the satellite hospital we were at today.  Our goal is to only give my child one "ouchy", he's been through enough in his short little 2 1/2 years.  He'll be at the main campus visiting the cardiologist on Tuesday.  We are deferring the blood draws for Tuesday after his cardiology visit.  This way he and I can both get our blood drawn and he can hold my hand after I hold his.  In addition to the hematology blood draw, we also need him to be tested for the possible celiac "gene".  So they should be able to do this all in one needle stick to the little guy's arm.  So hopefully by mid-next week we will know better about his platelets.  And we'll then move forward with whatever needs to be done once we get the results.

I think if I went back to school to become a doctor, I would want to work  in hematology.  What an interesting field of study.  Just with the platelets and bleeding disorder alone there are so many things that can go a-rye.  The most interesting thing to me, is that even though my son isn't showing glaring classic signs of a platelet function issue (ie. bloody nose, bleeding gums, excessive bleeding when he gets a cut, etc.), he can still have one.  Our body's hematology is just that complex.

Although, we don't have concrete answer's today, I do feel like we did get some answers.  At least, I know that my intuition might be right and that we are doing the right thing by invasively  investigating this platelet issue further.

I feel so bad that I didn't request a full and complete hematological work up on my son shortly after we found out he had Noonan's Syndrome.  I feel bad because maybe I could have saved him from the pain and suffering he had for quite a few days back in February.

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