Mucopolysaccharide Disease - don't worry I had no clue either!

Yesterday we headed out down to UVA Childrens and met with Dr. Wilson.  Our Genetic Doc here in Richmond sent us to him because she is all out of ideas and she keeps coming back to him having some type of storage disease and evidently this guy knows a thing or two about them.  Dr. Wilson went through his history and said the only thing he could see missing from testing was a Microray Study.  Um no, actually we already had not one but two of those suckers done, go ahead and check out page 7, paragraph 3 here in my handy dandy notebook.  So he did and scratched his head a bit and said we needed to go see a doctor who specializes in mucopolysaccharide diseases.  And for the Moms turned Doctors who read my blog here is what that word means:

one of a group of genetic disorders characterized by greater than normal accumulations of mucopolysaccharides in the tissues, with other symptoms specific to each type. The disorders are numbered MPS I through MPS VII, and each type has a specific eponym. All types are characterized by pronounced skeletal deformity (especially of the face), mental and physical retardation, and decreased life expectancy. The disorders may be detected before birth by testing fetal cells present in amniotic fluid. After birth, diagnosis is established through urine testing, skeletal changes observed on radiographic films, and family history. There is no successful treatment. Kinds of mucopolysaccharidosis include Hunter's syndrome (MPS II), Hurler's syndrome (MPS I), Morquio's disease (MPS IV), Sanfilippo's syndrome (MPS III), and Sly syndrome (MPS VII).


So he said there is a great doctor in Minnesota....whoa, holdup.  Than he mentioned one at UNC which is about 3 hours from us so we will be hitting him up first and than I suppose if he can't figure Ethan out, Minnesota we will go....

Ethan was acting a little "off", he slept the whole day, didn't eat much and generally seemed "off".  His eyes were getting really puffy which is usually a sign for him that his lactic acid levels are on the rise.  I suspected he would be sick in the next 24 hours.  Wish I was wrong...
 
 

 
When we got home his temp was over 103 and he was lethargic.  I also noticed a strange odor to his urine.  Great, I had just bragged to the Doctor at UVA that he had not had a break-through UTI in a year.  Guess I jinxed him.  He slept most of the afternoon and night but his fever got as high as 104 with Tylenol/Motrin rotation.
 
This morning Chris had to leave at 5 am to go to a meeting out of town.  Shortly after he left, Gracie woke up complaining of a stomach ache.  The next hour proceeded with her vomiting and ahem other things all over the bathroom. Lovely, very very lovely way to start our day!
 
Ethan went into the doctor this morning, they cathed him and were only able to get about 4 drops of urine but the nurse and I looked at each other and we both knew just by the color and particles that this kid has a UTI.  So we have some really strong antibiotics to get us through the next 72 hours until the culture comes back. Oh and for a little extra drama he had a little seizure because of his high fever....so he has slept all day and still is.  His fever is 102 now but he is sleeping comfortably (right next to me) so I'm sure I won't be sleeping much tonight. 
 
 

Remember back in February when they tried to do the Deflux Surgery but couldn't?  Since he hadn't had a UTI since last December we thought we were good but now I'm worried that his Urologist and Nephrologist will want to go forward with the Reimplantation surgery since he is still showing Grade V reflux bilaterally.  Guess, I will know more in 72 hours when the culture comes back and they change his daily antibiotic. 

On another note, Gracie is feeling MUCH better and is back to her "normal" self...