If You Give a Kid a Cane...

 

If you give a kid a cane, she'll want to take a walk outside.

You'll take her on one of your favorite scenic walks, and she'll probably notice all of the birds and wildlife.

She'll ask you for more knowledge on that wildlife, and when you give her that knowledge she'll probably want to go to college to learn more. 

College will be so exciting that she'll want to go to grad school!

Then she'll be busy writing papers and being a teaching assistant. 

She'll need a new outfit for her first job interview. 

So, you'll have a fun shopping trip before she flies off to DC. 

She'll interview at the Smithsonian Museum of Air and Space. 

While she's interviewing, she'll realize how much she loves the hustle and bustle of the city. 

She'll get the job and then she'll have to move!

So, you'll hire movers. 

When she's packing, you'll find all kinds of old momentos of growing up. 

You'll play cards, and boardgames, and flip through some of her favorite books from when she was younger.

Then she'll want to see some of her first braille books that seemed so difficult to read back then.

So, you'll run to the closet and pull them out, 

You'll read Freckle Juice, and Frog and Toad, and If You Give a Pig a Pancake...

Then you'll pull out her first cane from when she was 3 years old. 

It'll seem hardly tall enough for an American Girl Doll to use, 

and she'll want to try it out for fun,

and you'll laugh at how tiny it is. 

She'll decide she wants to take it to DC with her as a keepsake. 

Then she'll probably hug you. 

And chances are, 

she'll thank you for believing in her and pushing her to grow, 

then she'll want to take a walk with you again before it's time to go off to her new, independent life. 

Inspired by the Laura Numeroff "If You Give a Pig a Pancake" book series, and by my daughter. 

Et Cetera~Part II

One Year Old

I’ve promised to write a series of entries titled “Et Cetera,” and each entry will focus a bit on one of the many manifestations of WAGR Syndrome (www.wagr.org), which my daughter Evie has.  Again, I’m not a person in the medical field, so the information I am writing here is just what I have picked up along the way as the mother of a child with WAGR Syndrome.  Yesterday I wrote about the “W” of WAGR which stands for Wilms Tumor.  Today I’ll write about the “A,” aniridia.

Aniridia is the absence of the iris in the eye.  Rather than a blue, green, hazel or brown eye, people with aniridia have only pupil (although there is sometimes a distinguishable start to a iris, and there may be a small colored ring around the outer edge of the pupil.)  This is one of the most obvious indications of WAGR, but it doesn’t necessarily mean the person has WAGR.  Aniridia CAN occur as a hereditary trait in families, but, because that was not the case with Evie, the concern that she had WAGR was more pronounced. 

The iris is not just the colored part of a person’s eye; one of its primary functions is to protect the eye.  The absence of the iris means an individual will be highly sensitive to light, and also at risk for damage to the eye.  The lack of iris makes any surgical procedure more difficult and risky.  Usually, if an individual has aniridia, she may also have a number of other eye conditions.  Because the development of the eye is controlled by the PAX 6 gene, which lies on the 11^th chromosome, and the PAX 6 gene is deleted in persons with WAGR, the development of the eye itself did not fully occur.  The eye may also be afflicted by cataracts, glaucoma, or detached retina.  There are just a multitude of critical developments which occur as the eye is forming, which means the “iris” or lack there-of, is not the only complication found with aniridia. 

Raging glaucoma in her left eye

In Evie’s case, for example, we found she had glaucoma pretty quickly.  Her right eye responded to drops, but the left eye didn’t, so we needed to have a number of surgical procedures to try to reduce the pressure in her eye.  A normal eye pressure may be in the teens, but in Evie’s case it was often in the 30’s and would even get as high as in the 40’s or 50’s.  When her pressures were that high her left eye would bulge outward.  We often had thought, “Oh, look how well she’s opening her eyes…” (Because Evie had trouble opening her eyes)…we’d take it as a good sign.  In actuality, her eye was protruding from the pressure within it and it just made it appear as though she were opening her eyes wider.  

Evie also had cataracts, and still does.  The cataracts in her right eye are small and do not obscure her vision.  The cataracts in the left eye did eventually grow and interfere with her vision, but, the glaucoma was actually the biggest issue in that eye for the first year of her life.

Another issue that Evie had with her eyes was that her eyelids hung very low and she could not open them more than about a quarter of an inch.  This condition is called ptosis.  She actually started to lift her right eye open with her hand.  I have several pictures where this is the case.  

Holding her eye open to see Jinxy

Unfortunately, when she was about a year and a half old, (and also, incidentally on chemotherapy), her pressures had gotten uncontrollable in her left eye again.  We had to do something, even though she’d already had several surgeries on that eye.  However, we had gotten to the point where the cataracts would need to be removed if we were going to hope to restore vision.  Then we looked at the fact that she only “held” her right eye open with her hands, she never pulled the left eye open.  Never.  That likely meant that she really didn’t use the left eye.  If she had NEVER used the left eye…not even since birth, there was the likelihood that the BRAIN never learned to use that eye.  Our brains are amazing computers and if an access point doesn’t work, the brain stops trying to access information through that channel.  Her brain probably never used that eye, and even doing surgery to remove the cataracts and then surgery to try to reduce the pressure in that eye, for the fourth time, may not mean restored vision if the brain never learned to use the eye.  

Post eye-lift, A whole new world

We decided at that point that we had enough to deal with concerning her cancer, and we needed to get her comfortable by reducing the pressure quickly.  The cataract THEN glaucoma route would have required us to travel to another state for a procedure, and all of that seemed just too much to think about while she was undergoing chemotherapy.  Pile that on top of the fact that she may have never used that eye, and may never get vision in it, well, the choice seemed obvious to us.  Not easy, but obvious.  We agreed to have a procedure done which would significantly reduce the pressure in her left eye, but would also mean the eventual collapse of the optic nerve.  

At the time of that decision, I didn’t flinch.  I felt that cancer was our biggest concern, and if she was going to make it through cancer I didn’t really feel concerned about her not being able to see with  her left eye.  I don’t regret the decision one bit; but I also am thankful that God placed us in the extraordinary situation he did so the decision was easy for us…I don’t know if it would have been that easy had Evie not been undergoing cancer treatment at the same time.  

A post surgery patch~

So, Evie is legally blind.  She still is at risk for high pressures again that DON’T respond to the drops we give her.  She has a valve still in her left eye that had been placed during one of her surgeries, but scarred over, and we know there’s a risk of her developing dry eye because of the eye-lift her doctor did so she could keep her eyes open without physically holding them open.  At one time, post surgery, we had to give her about 19 drops in one day (a total that is based on having two eyes for drops, a variety of drops and a two to three times a day frequency with which we had to deliver them).  Currently, we have one drop for her right eye to keep the glaucoma under control and we put an antibiotic ointment in both her eyes at night to keep the eyes healthy, free of infection and moisturized.  

That’s our aniridia experience in a nutshell.  It’s not a comprehensive description at all.  Some of our friends with WAGR have had stem cell transplants, other implants, recurrent infections, detached retinas and continued deterioration of their vision.  It’s not an easy future to consider, and we know that we are more than likely going to watch Evie’s vision diminish more over time.  

Aniridia, the “A” in WAGR Syndrome.  It was our first indication that our baby was special, was different, and that our hearts were going to be broken time and time again.  Aniridia has its own “Et Ceteras” that come along with it; glaucoma, cataracts, etc.  Thankfully, by God’s blessing, one of the things that we got in addition to aniridia was Evie.  I wouldn’t trade her for the world.

Tomorrow I’m going to take you to the confusing, and often misunderstood “G”.  Yes, I will tell you about the genitourinary abnormalities that come with WAGR.   (Insert Parental Discretion is Advised graphic and PG-13 rating here).

Just Blind Enough

How many of you remember Mary Ingalls going blind?  Having grown up in the late 70's and 80's, I am a product of Little House on the Prairie and I will never forget Mary screaming, "Pa, I can't see, I can't see!!!" Charles scaled the ladder to loft faster than a squirrel up a tree-and Mary grabbed hold of him with clenched white fingers as if holding on for dear life.

This was the image still embossed in my brain when I learned that my daughter, Evie would be blind.  She was only a few days old when we learned of her eye condition, aniridia.  She doesn't have irises, the colored part of her eye, just pupils. Cataracts and glaucoma are also a threat to her eye, and she has an increased risk of developing keratopathy (dry eye)  or a detached retina.  

The interesting  dilemma we find ourselves in today, however, is that, although Evie is legally blind, she still has very useful vision.  She needs to learn braille and cane-travel because it's easier to learn that now, while she's in school, and while her brain is still quick to absorb all the information that children can and do.  Learning braille is just like learning Spanish or German; learning cane-travel is much like taking ballet.  But still having the "useful" vision that she does,  gives her the innate compulsion to USE that vision rather than learning the methods used by those who are fully blind. 

I equate this dilemma to when my sister and I traveled to Mexico for a home stay with a family.  The family spoke Spanish and we were there to practice our Spanish.  We had to talk slowly, dig around in our brains for the right translations, and often we learned what we didn't yet know.  But we DID know English, and that would have been faster for us.  So whenever we met someone who spoke English, we would revert right back to that first language that we'd been hearing since birth. 

In the same respect, Evie reverts back to using her vision whenever she can.  She's learning braille, and memorizes the dots in the braille cells just like we memorize the shape of the English alphabet letters; but when the dots are there on the paper in front of her, rather than feeling the dots, she will hold them as close to her right eye (the "good" eye) as possible and READ the dots. A blindfold is required when we practice her braille because of that strong gravitational pull which draws the paper to her eye.  Yes, I have to blindfold my blind child to do her homework.

It's just interesting to think that her usable vision, which we ultimately know will fade as she gets older, is an obstacle that keeps her from leaping forward in the "subjects" that are helpful to those who are blind.  Of course we cherish every day that Evie can see; can read large print, can read signs in the stores and on building fronts, can recognize faces...it's all a gift.  I know many families of children with Evie's condition have struggled with watching the vision that their child once had disappear.  I know we will go through that too.  But for today, I'll thank God for making Evie "just blind enough" that we can plan for the future, but still see what beauty is here before our eyes..

What is the one thing that YOU would miss seeing if you were to go blind?

I Cannot Tell a Lie...

WEGO Health is asking me to lie today.  I'm really good at making up lies quickly and pulling it off, but I'm not good at long-term lying.  Lies eat away at me and torment me as long as I keep them in.   So, rather than telling you some truths and lies and having you figure out which one is which about ME, I'll tell them about WAGR/11p Deletion Syndrome and you can determine which is truth and which is a lie.  I'll even send you to the website where you can find the answers.  (A.K.A. the Teacher's Edition of a textbook)

• WAGR/11p Deletion Syndrome is SO rare, that there are only a few hundred documented cases in the WORLD.  http://www.wagr.org/images/WAGR_Syndrome_Chapter_59_revised_upload_5_17_11.pdf  When you consider that "in the United States, the Rare Diseases Act of 2002 defines rare disease strictly as "any disease or condition that affects less than 200,000 persons in the United States," or about 1 in 1,500 people, then you might say WAGR/11p Deletion is "uber-rare". 

• WAGR/11p Deletion Syndrome is named for it's characteristics that manifest in people with the syndrome:
• W:  Wilms Tumor
• A:  Aniridia
• G:  Genital Abnormalities
• R:  Range of Developmental Delays  

People with WAGR show only these symptoms and don't have any other conditions to manage.  (Remember, I had to include a lie....)  http://www.wagr.org/guideforphysicians.html

• The International WAGR Syndrome Association holds an annual event called WAGR Weekend during which families with WAGR come from all around the United States, and the world, to spend a weekend together and have peace in knowing that they are not alone.  WAGR Weekend is a life changing event for many families.  http://www.wagr.org/wagrweekendevents.html

• In 2011, the IWSA announced a name change for WAGR Syndrome, and advocated calling it WAGR/11p Deletion Syndrome.  Much of the recent research has revealed that WAGR/11p Deletion involves a wider range of deletions on the 11th chromosome, so the broader name WAGR/11p Deletion more accurately depicts what is happening with the people who have it.  http://www.wagr.org/iwsanamechangenotice.html  Even more will be learned about WAGR/11p Deletion (jeepers, it was easier to type when it was just WAGR :) ) with the acceptance of the IWSA into the Global Rare Disease Registry which should launch within the next year.   "The goal of the GRDR is to create a resource of de-identified patient information from rare disease registries to help facilitate research and clinical trials; analyses of data across many disorders; and ultimately drug and therapies development for millions of rare disease patients. Long-term goals involve development of open-science principles and a sustainable resource funded and supported by private-public partnerships."  (accessed at  http://www.wagr.org/latestiwsanews.html on 11/18/2013).

You have successfully made it through my little WAGR/11p Deletion tutorial!  While I'm not going to give you a pop quiz to see if you retained the information, I will tell you that you can continue to learn more about WAGR/11p Deletion by signing up to get our monthly electronic newsletter, Mini-WINGS. 

 



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Under Pressure~Serving in the 11p Battallion, 350th Infantry, 1st Wisconsin Regiment

Poise, Confidence and Grace under Pressure

I know Who goes before me
I know Who stands behind
The God of angel armies
Is always by my side
The One who reigns forever
He is a Friend of mine
The God of angel armies
Is always by my side
Chris Tomlin~ Whom Shall I Fear, God of Angel Armies

Today we honor and remember our Vets who have protected our freedoms and our lives out of love for our country.  The WEGO Health Blog assignment for #NHBPM, on this Veteran's Day; (the 11th day of the 11th month), is for us to write about something we must do at a particular time of a particular day in order to deal with our (or in my case, my daughter's) chronic illness.  (That just felt like a whole lot of words in a really little space). :)

For Evie, the things we  need to keep on top of, and keep at as consistent a time as possible are Evie's medications.  She takes two meds for her high blood pressure, a prophylactic antibiotic for her recurrent UTI, an eye drop for her glaucoma and an ointment to keep her eye from becoming too dry.  Blood pressure medications are usually cumulative, or they build up to a point that they should be "constantly" in your system.  So we try as much as possible to keep those with breakfast and shortly after dinner.  We are also supposed to take her blood pressures daily around the same time to make sure we're comparing apples to apples.  The eye ointment can make her vision blurrier than normal (she's legally blind) and makes her eye goopy, so we keep that at night right before bedtime.  She's not as tempted to rub her eyes if she is getting ready to go to sleep. 

Besides medications, we have to keep on top of all her medical and therapeutic appointments.  Being that Evie has WAGR/11p Deletion Syndrome (www.wagr.org), and is at increased risk for developing Wilms Tumor, we started having kidney ultra-sounds when she was 6 months old.  She was diagnosed with and treated for Wilms Tumor at 15 months old until she was 18 months old.  I can say that one NEVER skips or misses a scan after that.  I usually start dreading the day early in the week of the appointment because of the "scanxiety" Even though Evie is now 8 years cancer-free, that scan-day can sure take me back to the days of chemo appointments, port-accessing, waiting for labs to ensure blood counts weren't too low...yuck.  Makes my stomach turn just thinking about it. 

We see ophthalmology every 6 months as well.  Back when Evie was an infant and we had trouble controlling her glaucoma, we felt like frequent fliers to Dr. Struck's office.  But, once we got the pressures under control, and her eyes seemed more "stable," we were able to spread out our visits. 

The first few years of a child with WAGR's life are VERY intense with lots of appointments, lots of medications, and lots of diagnoses.  I felt like we were hearing about something that was "wrong" constantly.  We always assure the new moms, dads, or caregivers who join our list serve support group that "it gets better."  And it does.  Quite honestly, whenever we would graduate out of a regular visit with a therapist or doctor, I would often cry.  They would become the "reliables" in my life.  I'd look forward to seeing Piper at OT, or Barb at Speech, or Betsy at PT.  That's a great, and positive part to our WAGR journey; I would never meet these wonderful people without WAGR! 

So, basically, our "11th hour" rituals are just keeping on course with medications and appointments.  The predictable, the routine, the uneventful have become cherished blessings in our life because for so many years it seemed like we just couldn't cut a break. 

From a "military" perspective, it's easy to see that we enjoy our moments of "peace."  It's a good day when I don't have to don my uniform and go into "Gorilla Mom" mode;  trying to be tough and not let Evie see my fear; trying not to show my tears through her tears.   That being said, Sergeant Tammie and Sergeant Jeff will obey any and all orders that come down the line of command in order to best serve Staff Sergeant Evie Jo.  We are proud soldiers in the 11p Battalion, 350th Infantry, 1st Wisconsin Regiment.  We serve our rare disease with other amazing soldiers, and our battle cry is: In God We Trust.

¹⁰ Finally, be strong in the Lord and in his mighty power. ¹¹ Put on the full armor of God, so that you can take your stand against the devil’s schemes. ¹² For our struggle is not against flesh and blood, but against the rulers, against the authorities, against the powers of this dark world and against the spiritual forces of evil in the heavenly realms. ¹³ Therefore put on the full armor of God, so that when the day of evil comes, you may be able to stand your ground, and after you have done everything, to stand. ¹⁴ Stand firm then, with the belt of truth buckled around your waist, with the breastplate of righteousness in place, ¹⁵ and with your feet fitted with the readiness that comes from the gospel of peace. ¹⁶ In addition to all this, take up the shield of faith, with which you can extinguish all the flaming arrows of the evil one. ¹⁷ Take the helmet of salvation and the sword of the Spirit, which is the word of God.¹⁸ And pray in the Spirit on all occasions with all kinds of prayers and requests. With this in mind, be alert and always keep on praying for all the Lord’s people.
Ephesians 6:10-18 NIV

Evie Jo's Sight Factory

Every human being is equipped with a sense called "sight." The sight comes from a place called the Sight Factory. Evie Jo had two major CEO's at her Sight Factory: Louisa Left-Eye and Ruby Right-Eye. This is a story about how the two CEO's dealt with major upheaval in their company.

In the early development of the Sight Factory, one important employee forgot to come to work, Isabella Iris. She didn't know she was supposed to work at the Sight Factory because the Human Resource managers on chromosomes 11 and 15 translocated some information and forgot to schedule Isabella Iris for her orientation. It was very unforunate that Isabella Iris couldn't work at the Sight Factory as she had such a colorful personality.

Louisa Left Eye had to work extra hard because of the Human Resource manager's miscommunication. HR didn't fully develop the employees as the Sight Factory and they even hired bad employees like Gary Glaucoma and Cataract Kate. Louisa Left Eye was trying to fire Gary Glaucoma from the very first day. She would write him up for disruptive behavior and try to retrain him with drops and surgeries. These fixes all were temporary, and a few weeks later, Gary would act up again. Gary Glaucoma liked to pressure Louisa Left Eye and she didn't work well under pressure.

In June of 2005, Louisa thought she had solved the problem by brining in Ahmed, the implanted valve to help relieve her pressure and eventually fire Gary Glaucoma. Several months passed, however, and suddenly Ahmed quit working and that allowed Gary to misbehave again. Louisa Left Eye was under so much pressure that her half of the Sight Factory became foggy and clouded over. Cataract Kate took advantage of the fogginess and she became a larger and larger presence as well. Soon, Gary and Kate prevented any work from being done at the Sight Factory at all.

Poor Louisa Left Eye felt she had failed Evie Jo. But, Evie Jo had already started using Ruby Right Eye for the majority of her Sight Factory needs. Evie Jo was just tired of the pressure from Gary Glaucoma, so she gave Louisa Left Eye early retirment and decided all her Sight Factory needs would go through Ruby Right Eye from that day forward.
.