Saturday, November 23, 2013

My PhD in WAGR/11p Deletion Syndrome

I didn't actually apply to the College of Letters and Science for the WAGR/11p Deletion program, but was recruited.  Apparently my stubbornness, curiosity in all subjects, and enthusiasm to use my communication skills made me a qualified candidate.  Now, I find that, after only a few years of parenting a child with WAGR/11p Deletion Syndrome, I have earned the honorable degree of PhD.  Maybe there's no diploma on the wall for this degree, and I didn't get a fancy "puffy" gold trimmed regal robe, but I do have a knowledge of WAGR that comes from experience and listening to others who have gone through it.  I also know that my education will continue; (apparently one needs to keep up to date on all the exciting developments as they arise.)

For WEGO Health's National Health Blog Post Month's 23rd day of blogging, I'm supposed to write about the times when I have "taught the teachers."  In other words, when have I been the one to help the doctors, therapists, and teachers learn more about WAGR than they did before meeting us?

There have been many opportunities to educate other doctors.  Typically, it hasn't been OUR doctors, but the ones we would meet when we'd be in the ER for an unplanned visit.  Actually, those trips became quite intolerable because we felt like a three ring circus.  We'd go in because Evie would have a fever and be lethargic, or she be having trouble breathing and we'd find out she developed pneumonia...but we'd be in the ER for HOURS AND HOURS because every intern-resident-med student on duty would have to come parading through our room and ask the SAME questions, and look in her eyes, and listen to her chest and ask, "Does she always look this way?"  (They would ask that because her eyes would be droopy, a condition called ptosis, and she had low muscle tone so she appeared extremely listless and floppy.)  "Yes," we would respond, "this is her typical appearance."  I actually got quite tired of the whole ordeal because we just wanted a diagnosis, a prescription, and a release to go home. 

Probably one of the most HELPFUL things I was able to teach the doctors came during Evie's chemotherapy.  One of the chemos she was on was vincristine.  Vincristine, we were told, was a "nicer" chemo, with fewer side effects.  However, what our doctors did not know was that patients with WAGR demonstrate a more dramatic response to the vincristine; meaning, whatever potential side effects there are, are much more likely to occur, and to a much greater degree, than with a "typical" patient. 

Fortunately, our BRILLIANT Gorilla Moms on our support group list-serve told me about this.  Since there was no real statistically significant data out there on WAGR and the vincristine side effects, we looked to the data regarding Down Syndrome and the increased toxicity vincristine had on patients with DS.  After I informed our doctors about this, there were actually a few doses of vincristine that our oncologist reduced the quantity, or even withheld treatment for a week until Evie's side effects were reduced.  Side effects would include:  soars in the throat down into the stomach, cramping in the legs, neuropathy (less sensation in extremities, like feet and hands), and constipation.  Evie typically had so much pain in her jaw that she had a hard time eating, or drinking from her bottle.  We had her on oral morphine in order to make sure she would drink enough fluids to stay hydrated. 

Another example of when we were able to give our doctors "inside secrets", was talking to our cardiologist about a procedure that Evie will have next summer.  I love our cardiologist because he is so open to getting feedback from me and listening to what I know rather than just determining what he would "typically" do for Evie's heart condition.  He said, "Is there anything I should know about WAGR and how a surgical procedure might affect her?"  I said, "Well, it's been determined through the study at the NIH that patients with WAGR are more at risk for developing pancreatitis after being under anesthesia."  "Really?"  He replied, "See, that's something I wouldn't have known.  Thank you for telling me that!"

Other things that people on the "outside" might not know include:

  • A lot of people with WAGR have sensory issues; they often benefit from occupational therapy
  • Many have hypertonia or hypotonia (increased muscle tone and under-developed muscle tone); they often benefit from physical therapy
  • Kids with WAGR will have trouble developing speech skills and may have conditions like speech apraxia; they will benefit from speech therapy
  • Patients with WAGR have an increased risk for obesity, and it is strongly associated with a deleted gene called the BDNF gene
  • Patients with WAGR have an increased risk of kidney failure, so a "kidney-sparing" diet is good and they should stay away from ibuprofen to treat fevers and pain
  • Some patients with WAGR have no, or, an under-developed pineal gland, and that is the gland that produces melatonin in our bodies; melatonin helps create regular sleep patterns in us; so many of our kids take oral melatonin in order to help them sleep
One final thing that people don't often have to be told, but they will quickly come to realize for themselves is that our loved ones with WAGR are incredible blessings.  I don't know how God does it, but he gives these kids to amazing families; places them right where they need to be; and then he makes them radiate life and joy to those around them.  People with WAGR have infectious laughter, profound insight, and inspiring determination.  

As Sarah Groves wrote in her song "Painting Pictures of Egypt," The places that used to fit me, cannot hold the things I've learned, and those roads were closed off to me while my back was turned.  That's such a good description of my life.  As much as I'd love to see those simpler times in my past; times before I knew some of the heartaches that I know now, I also recognize that I can't go back to life before WAGR.  I am a better, stronger, more compassionate, more faithful person than I used to be...I could never fit back into that my old life; and I wouldn't want to; not for all the riches in the world. 

My education will undoubtedly continue, and hopefully my insatiable curiosity will hold out as well.  I'm sure once I reach those pearly gates and hear Pomp and Circumstance playing as I walk the golden pathways in heaven, I'll be more than happy to toss my mortar board high in the air and know that my days of studying and learning are over.  But, for now, I'll happily teach some courses, and take some courses, and keep myself busy until that time comes. 

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