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.

Antworte deutlich mit ‘Ja’
Oder ‘Nein’, antwortest du mit ‘vielleicht’ machst du Menschen
Hoffnung auf Dinge die möglicherweise
Wagr weden.
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.

image

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.

Q-School 1st Stage Preview - Golf d'Hardelot

Okay so this event starts tomorrow (23rd Sep) and Sky Bet have odds available. I’ll pick out some guys to look out for.

Two top English amateurs will be making their professional debuts here, even though the event still allows amateurs. But these are good events for young guys to break the seal in.

Ryan Evans and Toby Tree are really talented golfers and they are priced at 20.0 and 33.0 respectively. Although this event is about progressing to the next stage and not necessarily winning (prize fund is peanuts). Remember these two names as you will hear them a lot in the future. 

Kevin Hesbois (18.0) is another promising player trying to progress. He is still an amateur and ranked 106th in the WAGR. However that didn’t stop him from winning on the Alps Tour this year. He’s 23 and went to Lamar University in Texas. 

WAGR Wednesday~Why We have the Coolest Toys

As a family of a child with WAGR Syndrome, we seriously have the COOLEST toys for playing pretend doctor at our house.  Why are they so cool?  Because some of the equipment is actually real!   

We have two blood pressure monitors.  The first is the kind you see in hospital rooms; big…really big.  That one stopped working about 6 months ago and we replaced it with a much more portable smaller machine.  We regularly are taking Evie’s blood pressure and e-mailing the numbers to the nephrology (kidney) department at the Children’s Hospital. 

We have been dealing with Evie’s high blood pressure since she was an infant.  She had part of her kidney removed when she was about 17 months old because of Wilms Tumor, which about 50% of the kids with WAGR will develop.  Whether it was the chemotherapy, the partial nephrectomy, or “just one of those things”, we really don’t know; but Evie’s blood pressure sky-rocketed.

At that point, we had never met with nephrology; only oncology (cancer department) and urology.  However,one of the doctors who was supposed to sedate Evie for an MRI saw that her blood pressure was averaging around 140/120 and he refused to sedate her until someone from nephrology came to consult with us.  Especially considering that infants blood pressure should be lower than adults, and this isn’t the blood pressure you want to see in an adult, we were pretty fortunate that the sedation doctor put his foot down. 

Since then, I have had to kind of “put my cranky pants on” a couple of times with nephrology.  They have never really treated Evie’s high blood pressure with the aggressiveness that I’d like to see.  People with WAGR have an increased risk for kidney failure down the road.  The higher a person’s blood pressure, the greater strain is put on the kidneys.  It only seems logical to me that we would want to keep Evie’s blood pressure at a controlled, healthy range.

We’ve been through lots of medications, and seen or experienced a lot of side effects.  The four types of medications used to lower high blood pressure are:

  • Calcium blockers
  • Beta blockers
  • ACE inhibitors 
  • ARBs

The most visible side effect Evie had was to a calcium-blocker she was on as an infant.  The two side effects she experienced were her gum tissue growing over her teeth (you could barely see them coming in when she cut her baby teeth), and dry mouth.  If you’ve ever experienced dry mouth, you know it is intensely uncomfortable.  Dry mouth also can cause or make one susceptible to sores and ulcers in the mouth.  Evie’s “skin” in her mouth would be so dry that she’d often have bleeding gums.  After several weeks of this (we didn’t notice it right away because she was such a young baby) I asked to have Evie taken off of the calcium blocker.

The “non” visible  side effects include a raised creatinine level, too much protein in the blood, too much potassium in the blood (hyperkalemia), and too much calcium (hypercaldemia) in the blood.  At one point in time or another, we have seen these effects in Evie and have had to switch medications in order to eliminate the problem. 

Evie’s also been on beta-blockers, ACE inhibitors and ARBs.  Actually, I think with the addition of her most recent medication, she’s on all three of those right now.  (Grrrr…wish we didn’t have to keep adding to her medication regimen.) 

Blood pressure is such a frustration for me.  A year ago, the nephrologist had Evie wear a 24 hour monitoring cuff to see if we could identify any root-cause of the high blood pressure, but the results didn’t yield any great “aha” information.   

We’ve added medication, taken away medications and switched medications; we’ve tried music therapy (which seemed to help for a while)…but we just can’t get her blood pressure as low as we would hope to keep it in order to place as little strain on her kidneys as we can. 

Low sodium diet?  Oh, don’t worry…we are on that day and night.  We took her off school lunches and pack her lunch every day.  I don’t bother buying many things that say, “just add water” because “just add water” usually means “here’s your entire day’s worth of sodium.”   

A recommended sodium amount for an adult who needs to reduce his or her intake is 2 grams…an example of what that equates to would be two bowls of chicken noodle soup.  Here are some other things we’ve done to try to limit Evie’s sodium intake:

  • I have begun to shop for foods that have fewer than 100 mg. of sodium per serving.  
  • I never add salt to anything, even if a recipe calls for it.
  • I buy many things organic, like peanut butter, because I’ve found that much of the organic foods have lower sodium.
  • I don’t let labels fool me!  A label may say, “Low Sodium” or “Half the Sodium,” but I still want to check the amount of sodium because I don’t know to what they are “comparing” their measurement.

Just last night I was looking at Evie’s blood pressure readings.  We had added a medication back in December because her blood pressure had crept back up, and the frustrating thing is that we are seeing the systolic number (the number on top) has only changed a little.  

Evie’s blood pressure is a daily reminder to me that I am not in control, and that medicine can only do so much.  I try to remember to give it to the Lord who already knows the plans for Evie’s life.  In the meantime, we’ll continue to monitor, add whatever we need to in attempts to keep her blood pressure lower, and, of course, enjoy having some of the coolest “doctor” equipment right here in the comfort of our own home. 

Et Cetera~Part V

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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.  

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