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S549 - WAGR Steam Locomotive - That Was Then, This is Now, Look Forward to the Future

Quick shout out to the blog of what I have been doing since June last year. Lots of hard work done, and more still to come, but the final product will be worth it.


(Note: I don’t run the blog, the project manager does.)

WAGR Wednesday~Sleepy Baby

If you’re a parent of a child with WAGR Syndrome, I know you will recognize this…

       Someone is sleepy…

       Looks like someone missed her nap…

       Oh, are we keeping you up? 

Sleepy Baby…

Only, when I’d hear these comments, my baby was wide awake, she just couldn’t keep her eyes open!  I know, I know…was that really a reason for me to get frustrated?

Tammie, they didn’t KNOW when they said she looked sleepy that Evie had WAGR, or aniridia, or vision impairment.

You’re right, they didn’t.  But, there’s a certain amount that I could tolerate, I mean, it was overwhelming how many times we would hear it when we were out in public.  My sister can account for it…”Six ‘sleepy baby’ comments and we are outta here,” I told her one day when we went shopping in Madison.

It didn’t take long…and, thankfully, my sister was counting right along with me, so she turned on a dime, and walked out of the store we were in when the 6th “Sleepy Baby” comment was made.

I remember her saying, “Okay, that was really annoying.”  And it wasn’t because people meant harm, and it wasn’t ignorance, and it wasn’t insensitivity; it was just unbelievable how many of those comments I could get day in and day out when Evie was a baby.

On the flip side, (and this is how God has a sense of humor), we had the totally OPPOSITE problem when Evie had her surgery to correct the ptosis (droopy eyelid).  Her eyes had to be “slung” open, so then, for a while after the surgery her eyes NEVER CLOSED. 

Seriously…

Do you know how freaky it is to look at your toddler with their eyes wide open and staring into space because they are sound asleep?  Doo-do-do-do, Doo-do-do-do (insert Twilight Zone music here).

So, we’d be at stores, restaurants, and doctors appointments, and people would try talking to her…but she wouldn’t respond at all. 

“Oh, she’s asleep…” I would say.

Imagine the looks I got THEN! And, you don’t really start telling someone about WAGR or aniridia in a brief passing moment like that, so I just left many people confused and in disbelief.

Because Evie’s eyes wouldn’t close, we had to put an ointment in them several times a day to keep them lubricated and healthy.  We still have to put the ointment in at bedtime because her right eye doesn’t close completely even when she sleeps.  But, I would take that any day rather than her not being able to keep her eyes open.

I wrote a poem about the “sleepy baby” that accompanied me for the first 20 months of her life…

No, My Baby Isn’t Sleeping

No, my baby isn’t sleeping,

Although her eyes are closed.

She’s wide awake and knows such things

A baby shouldn’t know.

No, my baby isn’t sleeping,

She just woke from a nap. 

Her smile makes my heart burst with pride

And I love to hear her laugh.

Evelyn means “living light,”

She’s that and full of grace,

She was knit together by her Father’s hands,

Not born through random fate.

I see my past and see how I’ve been shaped to handle this,

And how God’s brought you to my side

For strength and encouragement.

God tells me that he is higher than I,

That I can’t understand his ways,

But someday soon we’ll be glorified,

And he’ll wipe our tears away.

No, my baby isn’t sleeping,

She’s singing her own song,

I hear her twinkling melody,

And know she’s growing strong.

No, my baby isn’t sleeping,

Her life is full of joy and fun,

She’ll have challenges and trials along the way,

But with her faith, she’ll overcome.

50 First Dates ~ Lessons in Love

I wrote this piece back in 2009 just after Evie returned to school from winter break.  I’d like to share it on this WAGR Wednesday because I think it is so relevant to some of the daily struggles that we as WAGR parents face. 

 

As I announced yesterday on Facebook, our family will be going through a big move soon, and that could create enormous amounts of anxiety for any one of us, but especially Evie.  I will use this story as a reminder that I just need to continue to help Evie integrate the present with the future so she can understand how and why her life is changing.  We will get through our big move one day at a time; even if it takes 50 first dates…

 

One day, several years ago, my friend and I were discussing the things we have to do in order to try to “work with” autism or sensory integration problems, or even Obsessive Compulsive Disorder (OCD). For example, the joy of Christmas trees for us is like a thorn in the side of our kids who need routine and structure. A snow day or Christmas vacation, while a thrill, throws our kids into panic because it’s not how they “normally” schedule their day.


I looked at the Velcro-schedule board that I constructed for Evie in order to help her get through each day of Christmas vacation.   Eat, take medicine, brush teeth, brush hair, get dressed, read books, go to Grandma’s, play, put toys away, eat lunch, … bathtime, take medicine, read books, prayers, sing, bedtime.   Whenever she would start to panic, I’d say “let’s look at our picture-schedule.” We’d pull off the pictures of things we had done so she could see what was coming next.


After a moment of reflection, I realized, this reminded me of the movie 50 First Dates.   Adam Sandler’s character meets Drew Barrymore’s character.   Sandler learns that Barrymore was in an accident which caused a head injury and resulted in Barrymore’s inability to retain memories post-accident. Every morning when she wakes up Barrymore thinks it is the beginning of the day she has her accident.

 

Barrymore’s family has reacted to this by adjusting their lives to live that same day with her over and over again, because whenever Barrymore would learn of her condition she would have an extremely scary sort of breakdown. Rather than see her in such mental anguish, her family goes to extreme lengths to “live” Barrymore’s day over and over again.  They print up newspapers to make it seem like it was that day. They give her the same task of painting the garage wall over and over again; while at night they paint the wall white after she had gone to bed so as not to destroy the mirage that they create.  She and her family even sit down each night to watch the same football game as was on the night of Barrymore’s accident. 


They let the injury run their lives. They put their dreams on hold. Their future was living that same day over and over again.


However, Sandler’s character comes in and says, “I love her! There has to be a way that we can make this work.” He has to find a way to help her learn to “LIVE” with her limitations. Okay, she couldn’t remember beyond that day. She would wake up every day seeing him as a STRANGER not the man she loved. How could this ever work?


Because I don’t want to be a SPOILER, I won’t tell you what his solution is.   But, I’ll strongly encourage you to seek out this movie to see how love can create incredible ideas that lead to incredible solutions.


It’s our love for our special kids that keeps us going even on those tough OCD, autism, sensory integration problem days. We are choosing to live our lives in order for our kids to be able to live theirs. We’re not going to close ourselves in our homes in order to avoid the panic of the mall, or never take them to a theme park or Chuck E Cheese because they might get over-stimulated. We painstakingly prepare them for these events days in advance with social stories and pictures and discussions of “See Evie at Disneyworld.” “See Evie on the airplane”.


There are days when we don’t want to fight the fight. There are days we want to give up and say, “I can’t do this. It’s too tiring to day in and day out try to teach my child to LIVE, to SURVIVE, to THRIVE despite her limitations.” However, the obstacles they face in just making it through a day are incredible, their bravery is astounding, and we love them and we want them to succeed. Sometimes it takes medication, sometimes it takes a ridiculously detailed schedule of pictures, sometimes it takes challenging the OCD by saying, “I’m sorry, but the light stays on, this is how we live!”


The reward in the end is seeing our lovely kids succeed…seeing them with Chuck E Cheese, seeing them smiling in the dental chair, seeing them use a spoon or fork rather than their fingers.

Isn’t love amazing?

Sometimes it takes 50 first tries to eventually make it work, but those 50 first tries lead to the greatest reward of all–LIVING.

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

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). 

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).  

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 ).  

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.