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...

Et Cetera~Part VI

Badgers Through and Through

I thought Evie had autism.  She would crawl into a room and start looking for something and I would cringe, because I knew what would happen next; she’d bang her head against whatever she had found.  She would lay on the floor and rock back and forth and flap her arms up and down against her sides.  She would grab her hair and pull it out of her head, she’d grab her shirt and put it in her mouth and tear it with her teeth.  I’ll admit that I had fears of the demon-possessed people in the Bible who “rented their robes and gnashed their teeth.”  

A good friend of mine whose son has autism helped me figure out where to go to get Evie evaluated, AND she gave me a book called The Out-of-Sync Child, by Carol Kranowitz.  I started reading the various descriptions of types of Sensory Processing Disorder.  I recall reading the description of a child who had Sensory Modulation Disorder and was sensory-seeking; oh my, did that ever sound like Evie.  

As it turned out, Sensory Processing Disorder (SPD) was another common “Et Cetera” of WAGR Syndrome.  I wanted to be sure to cover SPD in my week of writing about the “Et Ceteras” of WAGR because it CAN seem like an endless nightmare until you find out what you can do about it.  We have had many conversations about SPD in our support group for families with WAGR, and we share lots of tips and tricks for how to deal with SPD.  As a matter of fact, we even have The Out-of-Sync Child in our lending library for our families.

The best thing we did once we found out Evie had SPD was start meeting with an Occupational Therapist.  In Evie’s case, she needed sensory input.  Evie wanted to feel things, and I think it was because she couldn’t identify where her body was, or what it was doing.  It was almost like she was looking for some sort of “grounding.” 

 

Our initial course of action included the following: (Please, understand that NONE of this should be done without the direct supervision of an Occupation Therapist.  Things can get seriously messed up if this is done without the training and supervision of a professional.)

Modulated Music Therapy:  CD’s were provided by Evie’s OT that had modified music recorded on them…Evie was to listen to the music through headphones for a certain length of time every day.  We noticed changes in Evie almost immediately. The music would calm her if she was having a “meltdown.” And her “meltdowns” became fewer and fewer.

Wilbarger Brushing Protocol:  When we first started this, we were trained on how to do it, and then we had to train others because for the first week, we had to do this every 2 hours while Evie was awake.  It involved using a soft (although from what I hear, various children prefer various textures) brush (the one we used was like the brushes they use on infant’s scalps in the hospital).  With very specific directions, we were trained to brush the arms, hands, back, legs (NEVER stomach), and feet.  I’m telling you the honest truth…it took one day of brushing Evie every 2 hours and we saw immediate changes in behavior.  She got up out of her bed for the first time EVER and walked to our room in the middle of the night.  Prior to the brushing protocol, if she woke in the night she would sit in her bed and cry.  I don’t think she was confident that she had control of her body prior to the therapy.  Evie’s speech improved, and she toilet-trained within a couple of weeks of brushing.

Here is a good link to follow to learn more about the brushing protocol: http://www.ot-innovations.com/content/view/55/46/

Joint Compressions:  I had heard about this at several of the conferences we attended put on by the Wisconsin Center for the Blind and Visually Impaired.  I didn’t realize how much it would actually help US!  Once Evie started the brushing protocol, the joint compressions were usually part of that whole routine.  Even after we stopped the brushing, we continued with the joint compressions and still use them from time to time if Evie needs to “chill.”  This process is kind of like giving a massage, but it’s done by compressing various joints in the body rather than massaging the muscles.  To learn more about the joint compressions you can check out this site http://sensoryandmore.com/2011/08/11/joint-compressions/ .

There is so much hope to be found in learning about SPD and how to create a “sensory diet” (a staple, consistent system on which the individual can rely that gives him or her just the right sensory feedback for which they search.) It takes research, it takes time, it takes professional help and input; but it is so worth it.  

Things we do to help Evie continue to get the sensory input she needs include:

•  Jumping, running, spinning, dancing
• Working with play-dough
• Carrying heavy items from point A to point B
• Using rice packs, weighted blankets or bean bags on Evie’s lap or across her shoulders when she’s transitioning between activities or seems distressed
• Preparing Evie for unusual days, and changes in schedule or routine in advance, if possible 
•  Using schedules to help her “visualize” her day

This is not an exhaustive list by any means, and every child is different.  I’m quite pleased, (now that we know how to manage it), that Evie is sensory-seeking…that also equates to “thrill seeker” which makes amusement parks quite an adventure, plane rides a treat, para-sailing a literal “breeze,” and loud music concerts awesome!   

To be quite honest, I think many of us have some sort of sensory issues and we can all benefit from a sensory diet.  Take a look at the success of the candle industry, aromatherapy, and ambient sound-makers; there’s some real evidence that we all benefit from some sort of sensory input to help regulate our systems and keep us feeling content.  

Speaking of ambient sounds, I’m ready to turn on a little sound-therapy myself so I can get my mind, body and spirit ready for bed.  Tomorrow I’ll write about sleep, actually, or the lack there of.  That’s right, another “Et Cetera” of WAGR is disrupted sleep, or trouble falling to sleep, or not even sleeping at all.  (*gulp*)

Et Cetera~Part V

I have now been writing for four days about the "et ceteras" of WAGR Syndrome.  "And other things..." is what et cetera means.  So today I'll talk about the other things such as obesity and high pain tolerance. 

Wait, Tammie, weren't you just going to talk about the four letters that make up the WAGR in WAGR Syndrome? 
 
Not quite. 
 
As more and more parents were able to connect over the internet beginning 20 years ago or so, they started to realize that their children with WAGR exhibited more in common than just the W-A-G-R.  A few of the amazing leaders who formed the International WAGR Syndrome Association decided to create a MedQuest.  It was a questionnaire for other families with WAGR to fill out so there could be some statistical data to present to medical professionals and researchers. 

Yes, you read that correctly, it was the parents of individuals with WAGR who did this.  I stand in awe of these parents every day and marvel at where we would be without them.
 
The results of the MedQuest got the attention they were hoping for.  To make a long story short, it generated enough excitement for pediatric endorcrinologist at the National Institutes of Health to start a study on WAGR Syndrome.  As phase one of the study progressed and the data was being compiled, the similarities of persons with an 11p chromosome deletion were so striking that the study's name was changed to the WAGR Syndrome, 11p Deletions, and Aniridia Study.  In the first few years some interesting discoveries have been made, and some have been published and/or presented at one level or another. 
 
One such discovery was the high correlation between a particular deleted gene and obesity in the patient.  The name of the gene is the Brain-Derived Neutrophic Factor (BDNF for short, but you can memorize the full name and dazzle your friends and acquaintances at cocktail parties and tailgating events...)  According to the NIH,

Expression of this gene is reduced in both Alzheimer's and Huntington disease patients. This gene may play a role in the regulation of stress response and in the biology of mood disorders. [provided by RefSeq, Jan 2009]  Accessed 1/8/13 at http://www.ncbi.nlm.nih.gov/gene/627

Playing at The Children's Inn at the NIH

Interesting...it regulates stress response and is part of the biology of mood disorders.  Hmmm...didn't I mention in my last post that Evie has "off the chart" anxiety and has trouble dealing with homework and learning new things?  Hmmm...

If you're not much into "science" but still like to read about these things in layman's terms, you'll find a great article on BDNF at the Livestrong website  http://www.livestrong.com/article/214646-brain-derived-neurotrophic-factor-exercise/ .  According to this article, BDNF "plays a key role in how easily your brain can adapt to and learn how to effectively complete new challenges, called neuroplasticity."  Well, hot-diggity...I think we're on to something.

But what does this have to do with obesity? The BDNF and obesity weren't really connected until the study at the NIH for 11p Deletions.  Guess what?  For all you research buffs out there, I actually found the article from the New England Journal of Medicine about the WAGR/11p Deletion, BDNF deletion and Obesity.  Check it out:  http://www.nejm.org/doi/full/10.1056/NEJMoa0801119 . 

For some reason, on some level, knowing that we participated in this study and it yielded such important results makes me feel like a celebrity.  Look out, Miley, your chain just broke on your wrecking ball, make way for the double helix (that's just some biology humor).

Sleep Study at the NIH

I'll sum up for you the findings of the study:  By 10 years of age, 100% of the patients with heterozygous BDNF deletions (95% confidence interval [CI], 77 to 100) were obese (BMI ≥95th percentile for age and sex) as compared with 20% of persons without BDNF deletions (95% CI, 3 to 56; P<0 .001="" font="">

Now I would call that a pretty darn strong connection between the BDNF gene deletion and obesity.  We parents struggle and struggle to help keep our children out of that "obese" bracket, but it is extremely difficult.  We don't WANT to deny our children the right to candy, chips and ice cream any more than anyone else does, but sometimes we have to be more vigilant than other parents.  It's VERY difficult to do when society rewards children ALL THE TIME with food!  I recall a parent once saying, "I want to hang a sign around [my child's] neck that says, 'I know I'm cute, but please don't feed me.'"  We've had to crack down on Evie's calories and try to encourage physical activity, but it has to be a family lifestyle for us.  I don't want to preach to her about staying healthy and then not follow my own advice.

Believe it or not, BDNF is tied to another common characteristic in our loved ones with WAGR; high pain tolerance, or at least a different way of perceiving pain.  I'll quote the article and then explain it in my terms.

Patients with BDNF [deletion]... had lower pain scores than patients with intact BDNF...suggesting impaired nociception similar to that described anecdotally in the case reports of a child with a chromosomal inversion of the BDNF region...These data are consistent with results of studies in mice that suggest that BDNF plays a role in the modulation of pain sensation. (Citation from http://www.nejm.org/doi/full/10.1056/NEJMoa0801119 ).  



Double IV's during the NIH Study Stay

Let me give you an example of Evie's pain threshold.  A few years back Evie was stung by a bee on her right hand.  She cried a little, we put ice on it, and then we headed off in the car for Detroit, Michigan for WAGR Weekend (I mean, when WAGR is so rare, you never want to miss a chance to hang with your WAGR peeps for a weekend.)  We got to WAGR Weekend without incident, but when we woke the next morning Evie's had was swollen, hot to the touch, and reddish with purple blotches.  Now you or I would avoid using that hand, but not Evie.  She was opening doors, feeding herself, writing, and coloring with her right hand!  A trip to the ER confirmed that she had a staph infection.  If you've ever had any infection, you know that this had to be painful, yet Evie showed no distress concerning her hand. 

Oddly enough, once we started Evie on occupational therapy, she started to perceive pain more like a "typical" person.  That was good and bad.  It was good because a high pain threshold can be dangerous.  For example, Evie wound up with a horribly burned hand when she was 3 years old because she had held it on a hot oven door and didn't respond to any sort of pain stimulus.  Now that she processes pain more normally, she dreads having a blood draw, and actually cries when she is hurt.  It breaks my heart to see her fear and pain, but I know that it's better for her to respond to,and accurately process pain in the long run. 

So you see, there is still more to WAGR than just W-A-G-R.  Here I've identified the high incidence of obesity, and the high pain tolerance expressed by a great majority of our loved ones with WAGR/11p Deletions.  Tomorrow I think I'll tackle Sensory Processing Disorder (SPD).  You'll hear about head-banging, biting and hair-pulling (oh, my...), and find out how many of our families have found successful ways of dealing with SPD through occupational therapy.