MUSC

It took us from 2011 until 2013 to make a step forward.  We were stuck in a rut of not knowing what to do or where to go.  Patrick maintained his platelets over those 2 years anywhere between 60,000 and 100,000...varied all the time.  We continued to go to the local hematologists/oncologists and they kept close observation on him.  They tested Patrick for everything under the sun and everything always came back normal or negative.  I always thought what a horrible mother when the nurses, or doctors, would call to tell me that he didn't have this or that and I would be disappointed.  After two years we were nowhere closer to when we started....still high fevers, enlarged spleen, low platelets, low weight gain, and diarrhea.

We found us at our local pediatrician for some sort of virus and had a candid conversation...it was time to try somewhere else and he began the referral to MUSC in Charleston.  We made it down there for our fist visit...the email below...

June 14, 2013

Just to recap:

Patrick started a fever on Saturday and still continues.  It was good timing for our upcoming trip to Charleston.  He had been complaining about his stomach hurting...he says it hurts where the hole is (belly button) and doctor said it could be his spleen since his crosses through the center of his stomach.

Tuesday (went to MUSC)...blood counts were really all over the place.  His platelets were at 54K.  His hemoglobin was actually good since he was on iron but the proteins that surround the platelets were down half as well as his white blood cells.  His white blood cells have always been in a normal range.  Her biggest concern was his spleen as it is really large.  You do not even need to apply pressure and even can see it now if he is laying down and takes a deep breath.  It goes across his entire stomach...and really shouldn't even be able to feel it...but it is really hard.  It feels like a rubber ball.  

Wednesday (Greenwood Genetics)...Patrick had a fever that morning and just really didn't want to be there but glad we went.  They were very thorough and had some different ideas.  She could not think of anything genetically to run but wants to look at the breakdown of his metabolism and amino acids.  After reading his charts she immediately thought of Goucher's disease and wants to re-run that.  Normally the liver is swollen and upon checking on Wednesday his is normal.  They will also check for Fanconi's syndrome.  They pulled plasma and want to study his DNA and do a chromosome study.  They said these tests take anywhere between a week and 6 weeks to get back.  She will present his case to her counsel to see if they have seen anything like this before or have any other ideas.

In the meantime the doctor and geneticist said to be careful of his spleen area...no wrestling, riding bikes, jumping, etc.  The others have been so good to be mindful of this but how hard to keep a 3 year old boy from doing these things! 

The doctors are all a bit baffled....