Monday, January 6, 2014

Et Cetera~Part III

Here we are, we've made it halfway through the letters of WAGR, but there will be even more to come once we get through that.  I've told you about the "W" for Wilms Tumor, and the "A" for aniridia; today I'll tackle the "G", a commonly over-looked, misunderstood, but often quite complicated part of WAGR Syndrome, the genitourinary abnormalities.

The "G" manifests itself in different ways.  First though, I'll help you understand what "genitourinary" means.  According to the Children's Hospital of Pennsylvania , genitourinary "refers to the urinary and genital organs".  Since I don't have a boy, I'll just insert here that the ways the boys might be afflicted by the genitourinary abnormalities typically include undescended testicles, and hypospadias.  Both of these conditions usually require some sort of intervention from a medical professional, and that may include surgery.  Helpful links regarding these two conditions can be found at the International WAGR Syndrome Association's website

As far as girls with WAGR are concerned, here is what is documented on the IWSA website:
In a report of 7 girls with WAGR syndrome, it was noted that although each was genetically female (had two X chromosomes) and all had normal-appearing external genitals, they also had various abnormalities of the uterus, vagina, and/or ovaries.   5 of the girls had absent, small, or abnormal ovaries, and one girl had gonadoblastoma (a type of cancer that is more common in abnormal ovaries). 
I asked Evie's surgeon responsible for removing her Wilms Tumor to take a peek at her ovaries "while he was in there"...I mean, hey, let's take advantage of  the fact that we had her belly opened up, right?  He said Evie's ovaries appeared normal, of course she was only 16 months at the time, but that was still good news to hear.

Our biggest struggle in the "G" category would be with recurrent urinary tract infections (UTI).  Evie started getting them when she was on chemotherapy, and they just kept coming.  More often than not, we didn't even know she had a UTI.  Evie has a really high pain tolerance, and processes pain differently, so she would never complain of any discomfort.  That combined with the fact that she has a cool thermostat inside (her average temp is usually 96.8 rather than 98.6), she wouldn't even run a typical fever despite the infection.  The way we "caught" the majority of the infections was by us taking her in to the clinic for a bad cold, or for just a routine "pee in the cup" type of appointment (once every 3 months for quite a few years; now more like once ever 6 months).  If, however, the UTI came back after Evie had just finished a round of antibiotics, it would come back with vengeance.  That's when she would become lethargic and feverish.  There was actually a quarter at school, when Evie was in kindergarten, that she missed nearly as many days of school as she was present. 

Finally, after so many struggles and so much missed school, we asked that Evie be put on a prophylactic antibiotic.  That did the trick.  I think she has gotten 2 or 3 UTIs since going on the antibiotic so many years ago.  Prophylactic antibiotics are a lower dosage than a treatment strength, but help ward off those recurrent infections.  We had taken her off the prophylactic antibiotic for about a 6 month period to see how she did without it, and she got 2 UTIs within that time-frame, so we put her back on it.

Evie and Jenny with their canes at WAGR Weekend 2013
So, that's the "G" in WAGR.  Genitourinary problems, usually more easily diagnosed in the boys with WAGR, strike in several different ways.  It's another part of the et ceteras (all the rest) that come with genetic deletion on that 11p chromosome in the DNA of the body.  

Tomorrow I'll tell you about "R".  When WAGR originally showed up medical textbooks, maybe only 20-30 years ago now, the "R" stood for a term that isn't usually used in society anymore.  Since the movement to end the "R" word, we have come to refer to the "R" in WAGR as a Range of Developmental Delays that people with WAGR show.  

For those who haven't heard much about WAGR before, and for those who have but didn't understand,  thank you for reading these posts.   WAGR is so rare that there are only a few hundred cases WORLDWIDE.  I think it's so important to raise awareness of WAGR so we can ensure earlier diagnosis, preventative monitoring as necessary, and effective treatment.  The future for our loved ones with WAGR is so bright...

1 comment:

  1. Thank you Tammie for sharing all this with us Wagr parents. It is so encouraging to see how great person Evie became after all she has gone through. BR, Jana from Slovenia



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