Friday, January 10, 2014

Et Cetera~Part VII

...And other things...
Sleep deprivation...
The Duck wishes Evie didn't Sleep so Well...
Everybody hates the feeling, and everybody experiences it at some point in time.  But, it turns out that this is another common theme among those with WAGR Syndrome...the inability to sleep.

As one of the last parts of my "Et Cetera" series on WAGR Syndrome, I'll talk about the commonality of the sleep disturbances for those with WAGR, what recent research, including the study on WAGR/11p Deletion and Aniridia at the National Institutes of Health has revealed, and how we have been learning to work with another of those "WAGR things". 

Evie has always been a pretty good sleeper.  I can honestly say that, even when she had colic, she would turn off by ten o'clock at night. She would wake in the night to nurse, but would fall back to sleep easily.  Once she got into school, however, that changed.  It was like she couldn't turn herself off.  This made OUR nights grow later and later, and less productive with each passing week.

Finally, when I wrote about Evie's difficulty with falling asleep in our WAGR support group, a parent suggested melatonin.  Oh my goodness, why hadn't I thought of that?  In the previous years, as part of the support group, I had heard a bunch of parents suggesting melatonin to our other WAGR parents and proclaiming the positive effects it had on the sleep patterns of their children.   

The fabulous thing is that no one in our support group ever says, "Tammie, we've already discussed this.  Please check your archives."  (*phew*)
Melatonin is a chemical that the body produces to help regulate sleep patterns.  Many people take it (in the US it's an over-the-counter drug sold in the vitamin and supplement aisle), especially those who may work the "graveyard shift."  When people have a schedule that is countered against what our typical sleep patterns might be, (for example, when it's light rather than dark); they need the extra melatonin because their body may not produce enough naturally on its own.  (To read more about melatonin and sleep disorders you can visit http://www.sleep-disorders-help.com/what-Is-Melatonin.html ).  
Research on patients with aniridia, and WAGR/11p Deletion Syndrome (having a PAX 6 mutation or deletion in more specific genetic terms) has revealed that many of the patients had under-developed pineal glands (accessed 1/10/14 at http://onlinelibrary.wiley.com/doi/10.1002/ana.10576/full).  The under-developed pineal gland causes a decrease in melatonin production, thus causing a disruption in how the body regulates its circadian rhythms, therefore leading to disrupted sleep or a difficulty in falling asleep.  (I really hope I explained that correctly...)  

The study at the NIH has an extensive sleep portion to it, and the families who participate get back in return extremely helpful observations and suggestions regarding sleep patterns and any disturbances during sleep that the patient may experience. 
My family is fortunate... 
Evie responds very well to the right amount and right kind of melatonin.  We just recently discovered that we can't use the time released melatonin because it must not be "enough" at the beginning of the dose to cause her to fall asleep.  It would take her 2 to 2 1/2 hours to fall asleep when we were giving her the time released.  I mentioned this on Facebook and received a slew of affirming responses from friends with WAGR and aniridia who have experienced negative effects from the time released melatonin.
Just another "one of those things" that our 11p Deletions seem to have in common.
So....*yawn*...all this talk of sleep has made ME sleepy.  

I have written for a full seven days now on "Et Ceteras", and I'm trying to determine how many more of these I should write.  Frankly, I'm getting a lot of ideas for other things I'd like to write about, but, in all honesty, there's more I can write about WAGR and the "other things" that come along with it like the increased risk of pancreatitis, high blood pressure, renal failure, etc...etc...etc...
Instead of anguishing over this decision, I'm going to ask all of you!
You're my readers, you seem interested in learning more about WAGR, but I know that some of my stories in the past that have not been focused solely on WAGR have also been some of my most popular posts.  Please, please, please, let me know what you think...
Should I:  
A.  End my series here and go on to new topics?  
B.  Continue my "Et Cetera" series, but only post on Wednesdays about WAGR and call it WAGR Wednesdays? 
C.  Keep going daily on the "Et Ceteras" until I am all.tapped.out...?
Again, thank you for your loyalty, interest and encouragement.  I am truly touched by the outpouring of support that I have received from all of you, and I know that our WAGR family around the world is benefiting by this "buzz" and all that people are learning about this rare disease which only has a few HUNDRED cases WORLDWIDE.  

Sweet Dreams...


No comments:

Post a Comment

The faucet hasn't dripped in months...

Nori and Jinx at our hotel at Lifest Five months have passed, We've seen it snow, We opened gifts,  We miss you so. We t...