Patience as Patients ~ WAGR Wednesday

Photo of Janet (Ms. Jackson, if you're nasty) couresty of http://welove3t.weebly.com/uploads/4/3/9/1/4391192/207730_orig.jpg

As I sit here, my bright pink ear piece plugged into my right ear and the microphone/mouth-piece curved down along my jaw line (go ahead, picture Janet Jackson, I'm okay with that), I am listening to broken, fuzzy, pointless music and waiting (25 estimated minutes) for my call to be connected to someone at the Division of Health and Human Welfare somewhere, in some building, in some city here in the great state of Nevada.

I thought I'd take the time to write a little bit about the patience that we have to demonstrate as we meander the rocky river of life with WAGR.

I knew that moving to a different state would mean re-applying for all of Miss E's services.  I knew that we'd be going through an onslaught of "first" appointments in which we may or may not meet people who give a flying fig about a disease as rare as WAGR.  I knew that I'd be applying for a substitute teaching license and would be basically unemployed as we met our annual deductible for our health insurance and paid the bulk of our medical costs out of pocket (Thank God for HSAs!). 

I forgot, however, how much PATIENCE it takes.  

I have patience with little classmates of Miss E who are trying to learn about the syndrome that their new classmate has...can I not have patience with the doctors who are treading into new territory as well? 

I have patience with the social worker who exchanges pleasant conversation with me as she learns about WAGR in our home...can I not have patience with the person who sits in the office and has to take angered call after angered call from people who need their help just as much, if not more, than my family does?

I have patience with the pharmacy that knew us well because they had been in the trenches of medication after medication for blood pressure and glaucoma and constipation from chemo...can I not give a little of that patience to the new pharmacy here who never seems to have a correct co-pay total for me even months into this process?  A lot of information runs through a pharmacy each day.  

"Patience," I must tell myself, "You are here and teaching new people about WAGR.  Someday, when they will hear the term again, they will say, 'Oh, I remember doing this for someone with WAGR before' and that will bring comfort to another family who is diving in to the rocky river for the first time.

Well, I'm down to 10 more minutes of my (estimated) wait time.  Yay, I've used this time wisely!  Had I closed my eyes to listen to the "tin can" music, I likely would have drifted off to sleep and missed the opportunity to talk once it was my turn.  

 I'm not sure if you are aware, but I try to blog often about WAGR/11p Deletion Syndrome, and share my point of view as a mother of a child with it.  There are a lot of intricacies that accompany this genetic disorder, and they are worth laying out on the table so parents and guardians can discuss them with doctors, therapists, teacher, and even friends and family.  

To read more of my WAGR Wednesday posts, just follow this link!  

And, for the record, I just got off my call...it was 56 minutes and 43 seconds long...I had a truly nice chat with Phyllis, who was sweet as could be, and she will get my message to the worker assigned to our case...she requests 48 hours to return calls...

Patience...

Devoted to Doing Good ~ Guest Blogging Day

Photo Courtesy of Gualberto 107/freedigitalphotos.net

Do everything you can to help Zenas the lawyer and Apollos on their way and see that they have everything they need. Our people must learn to devote themselves to doing what is good, in order to provide for urgent needs and not live unproductive lives.  Titus 3:13-14

This week we embark on a new adventure.  For 10 years we were seeing the same doctors in Madison, WI.  They had seen us through good times and bad.  They had delivered us both exciting news and devastating news.  They had become trusted, loyal, and steadfast companions in our WAGR Syndrome journey.  

But that chapter comes to a close and we now turn our eyes to the medical professionals in California.  They don't know us.  

Read more at http://www.comfortinthemidstofchaos.com/2014/10/devoted-to-doing-good.html ...

Unwelcome

Deplorable,

Abhorable,

Jealous and Over-zealous is the Fear that knocks on my door.

It's creeping in;

It's seeping in,

As Unwelcome as the Black Widow that skitters across my floor.

Anxious,

All hope is stymied.

Distressed,

All peace unravels.

Unglued,

I pray for mending...

Breathe in, and out;

Breathe in, and out.

Sovereign,

Omnipotent,

Merciful and Just is the Almighty God who watches over us.  

Written in response to Sunday Scribblings 2 writing prompt:  an unwelcome guest

She's Not as Blind as You Think ~ WAGR Wednesday

Today is national White Cane Safety Day in the United States.  (Some states recognize it as White Cane Safety Day, and others White Cane Day).  The US Congress designated October 15th as the official day of observation back in 1964. In recognizing the day on a national level, the accomplishments, independence, and contributions of people who are blind or visually impaired has been more widely celebrated and acknowledged.

In recognition of White Cane Safety Day, I decided that today's WAGR Wednesday piece should be about what vision is like for our loved ones with WAGR. 

Here are three things I have heard over all of Evie's 10 years:

"Oh, she looks so tired..."

and

"I don't think she's as blind as you think she is," or "I think she can see more than you think she can."

and 

"Won't glasses help?"

First thing's first, the sleepy baby...

Age 1~Trying to see her world.

People with Aniridia have no irises...the colored part of your eye.  The iris acts as a protective device against many factors that wage war on the eye, one being LIGHT!  That being said, you can imagine how BRIGHT things are for those with Aniridia.  Being all pupil, Evie is VERY photo-phobic and often will wear her sunglasses even on the cloudiest of days.  Yes, she often will look sleepy because she won't open her eyes extremely wide as one might usually do if the iris is there to protect the eye from bright light.  

Another thing that many people with Aniridia experience is ptosis of the eye.  This is a droopy eye lid, which varies in severity from case to case.  In Evie's case, she spent the first two years of her life gazing through about a 1/4 inch slit of space to see the world around her.  As she became more able to manage her gross motor movements, she would hold her right eye lid up so she could get a better view.  She never touched her left eye, and that's because her brain may have never learned to use that eye as she had undergone several surgeries on that eye due to her glaucoma.  When Evie was about 22 months old, she had a surgical procedure to lift those eye lids so she wouldn't have to do all the work herself.  What a difference that made, but she still has a "sleepy" look about her at times, so we still hear about how "someone needs a nap."  

After Evie had her Ptosis Surgery

I don't think she's as blind as you think she is...

Evie runs around, climbs stairs, swims, dances, rides horses, writes, reads...so, people who aren't familiar with the variations in blindness often don't think she's blind.  There are many factors, however that affect the level of visual acuity one has.  Take for example the fact that Evie has had consistent vision since birth; she has not LOST vision and she has not GAINED vision.  So, if it's all one knows, than one may be very comfortable with that level of vision.  She learned to run without seeing out of her left eye, and only seeing a blurred vision through her right...she learned to read with just a blurred right eye...she learned to dance with no peripheral vision and just looking through a blurry right eye...IT'S.ALL.SHE.KNOWS.

What you don't know CAN hurt you...if Evie doesn't know there's a post on her left, she will run into it.  If Evie doesn't see the car mirror on the left when walking through a parking lot, she will run into it.  If Evie hasn't been to this house before and races through the kitchen, she will trip over the cat or dog food bowl and slam into the counter on her left.  If Evie is supposed to be following a circle of cones and running in a circle around them, but they are running counter-clockwise...she will run in a direct line straight out because she can't see the cones on her left.

Jenny (from England) and Evie at WAGR Weekend 2013

Yes, she is, indeed as blind as I think she is.

Evie's white cane has given her tremendous independence and safety.  She has been using it since she was three because we learned at a conference that kids who start with their cane at age three are less likely to reject their cane as they get older, and others have learned to see the cane as "part of them."  PLUS...Evie's vision is very fragile...we could wake up tomorrow and it could be worse than it is today, (it sometimes goes that quickly with Aniridia, cataracts, dry eyes...all of dangerous factors that can pop up quite unexpectedly in our WAGR world).  We want Evie to know how to use a cane before she is DEPENDENT on her cane...why wait and put the pressure on her when she'll be adjusting to other changes in life?  Let's do it now.  

 Can't glasses help???

Glasses help to correct the refraction of light that comes through the cornea and the lens of the eye.  But, get this...in the eye of a person with Aniridia, the main problem with vision is that there are not enough cells at the back of the eye that will transmit the messages received by the eye to the brain. (Aniridia Network)  While some people with Aniridia DO wear glasses, it is to help them with the same type of near-sightedness or far-sightedness that we are used to hearing about in people with typical eyes...it does NOT help the type of vision loss that comes from Aniridia itself.  

This was a longer post than I'm used to doing...so, if you made it this far, CONGRATULATIONS!  For me, White Cane Safety Day was a day for me to learn more and tell more.  I appreciate all of you who join me in recognizing this day which celebrates the accomplishments of such extraordinary people.

What's a Parent to Do? ~ Guest Blogging Day

Photo Courtesy of ImageryMajestic/freedigitalphotos.net

Remind the people to be subject to rulers and authorities, to be obedient, to be ready to do whatever is good, to slander no one, to be peaceable and considerate, and always to be gentle toward everyone.  Titus 3:1-2 NIV

I've decided that God likes to humble me weekly as a means by which to give me my next "blog" topic.  At least, that's the way it's felt lately.  Just this past week, I can name two distinct times when I did NOT do as Paul had instructed here in Titus 3.

 

Continue reading on Comfort in the Midst of Chaos...

My Kingdom For An Epi-Pen...~WAGR Wednesday

Emerald Bay on Lake Tahoe

The never ending excitement of having a child with a rare disease...

Most of the time, in spite of all of Evie's numerous diagnoses, we live a tranquil life.  However, on Thursday of last week, we experienced another "bump in the road."  

I got a message on my phone from Jeff saying that Evie had been stung by a bee at school.  He said he was going to take Benedryl over to the school.  I suggested he get the non-drowsy since we'd never really had an issue with bee stings, so a major dose was probably over-kill. 

As it turned out, that was everything EXCEPT for over-kill.  When Jeff was still on his way there, he got a voice mail from school saying that they were going to administer the Epi-pen because Evie was swelling dramatically and turning blotchy red and white. 

Evie has been stung by bees before, and we have never seen an allergic reaction.  This time, however, had the nurse at school not made the decision to administer epinephrine, I shudder to think of what I would be sitting here writing right now.  

It was our first trip to the ER here in Nevada.  Evie was transported by ambulance to the hospital, and I met her and Jeff there.  Evie, in her character said upon my arrival..."I have a question for you...for ALL of you..."  We paused and awaited this important, tear-filled question:  "Can I still give my book talk tomorrow at school?" 

Tough.as.nails, these kids with WAGR are. 

After being released from the ER, we dropped off our Epi-Pen RX at Walmart and headed to get some frozen yogurt while the meds were being filled.  I then drove Jeff and Evie back to school as Jeff's car was there (he had ridden in the ambulance with Evie to the ER.)  

When I returned to Walmart to pick up the RXs, I was told that they couldn't fill the Epi-Pen RX as it was written for a Junior Epi-Pen and Evie needed an adult due to weight.  When I said, "Well, there must be something we can do" the pharmacist told me that they had already called the doctor and he had left for the day and we'd have to wait for him to call back.  

Here's me...

"I just found out that my daughter has a life threatening allergy...I will NOT leave this store until I have an Epi-Pen in my hand."

"What do you expect us to do?" 

"There IS a way to get around this.  I'm certain that the doctors and nurses who observed Evie today would NOT want us to be without an Epi-Pen.  What number did you call?  I will call them and get this cleared up."

The pharmacist, pursed lips, doubtfully furrowed eye brows, turned the computer screen to show me the ER's phone number.  

I called and explained who I was and what I needed.  The receptionist informed me that I could call another number, which she gave me, and ask for an ER doctor to re-write the RX.  I then gave the pharmacist tech the new number and he called and got the re-write taken care of.  About 30 minutes later, I was on my way home with our precious Epi-Pen.

In all the things that we have been through; cancer, heart surgery, recurrent infections...I don't know that we have ever been at the precipice of a life-threatening situation such as this.  Had our WONDERFUL school nurse NOT administered the Epi-Pen...I quail at the thought. 

Did you know that the epinephrine administered through the pen is done so to prevent the HEART FROM STOPPING, and to keep the blood pumping to all parts fo the body.  I didn't realize how disastrous an allergic reaction could be.  Her HEART could have STOPPED.  This wasn't just a throat swelling, or eyes puffing up, or an itchy rash.  This was her HEART!.

So, I have learned many things from this experience, and one of them is to NEVER MAKE LIGHT of an allergy...the other is SCHOOL NURSES are LIFESAVERS...and finally GOD HAD US IN THE RIGHT PLACE AT THE RIGHT TIME.  

What would have happened if Evie had been stung when she was just with our family and we didn't KNOW she had this allergy?  What would have happened if she would have been on a field trip?  What would have happened?  What would have happened?  We were in good hands (in my life, I'd say we were in God's hands), and we are thankful to be enjoying the week we are just one week after such a harrowing experience. 

...and finally, I will not go ANYWHERE without our Epi-Pen...

Who's the Bully Now? ~ Guest Blogging Day

Photo Courtesy of Ambro/freedigitalphotos.net

Jesus said, "Father, forgive them, for they don't know what they are doing." And the soldiers gambled for his clothes by throwing dice.  Luke 23:34 NLT

I was excited to attend my daughter's first official school "program" of the school year today.  My husband and I eagerly took our seats and waited for the program, Bullies Anonymous to begin.  Evie, of course, had been singing the songs for weeks and we were looking forward to seeing the glowing smile that she always wears when she's "on stage."  

Unfortunately, however, it seemed the two moms seated behind us were not feeling quite the excitement that we were.  They began by noting loudly that this was so early in the day that they had almost forgotten about it.  Okay...no problem...maybe their kids hadn't been talking about it for weeks like mine had.  No big deal!

Once the program began though, I couldn't block out the sound of the heavy breaths (I could almost picture them watching the clock), the snickering and "tsk-ing" sounds when someone forgot to hold their microphone close to them, nor the "Oh, Lo-ord" drawn out in disdain as the actors brought in a "computer" used to detect bullies (I even caught that one on video as I was recording Evie's line that she had in the program). 

Continue reading on Comfort in the Midst of Chaos...

Which came first~the OT or the PT? ~ WAGR Wednesday

Once She Started Walking, She Never Looked Back....

Before I had Evie, I thought OT (occupational therapy) was someone helping another person learn how to do "daily living" things like zipping a zipper, or buttoning a coat.  I thought PT (physical therapy) was someone holding on to two parallel bars and gingerly walking from one end to another.  I never thought that OT and PT would become such an integral part of our family life, but then I didn't know that I would have a child with WAGR Syndrome.

The "R" in WAGR means there is a RANGE of Developmental Delays.  One child may walk and talk along the same developmental scale as a "typically" developing child.  In our case, Evie didn't walk and talk until long after most children start to.  It wasn't from a lack of trying!  We had in-home PT from the time Evie was just a few months old.  Our PT would bring in all kinds of slanted seats and bean bag props to help her develop better posture to compensate for her low-muscle tone; water noodles for holding up and getting Evie to grab on to, and bubbles to blow and get Evie to crawl after or reach out for. I didn't realize that PT was there to help us realize even a small milestone like increasing the degree to which Evie could dorsiflex her foot.  

OT would come into our home and help Evie develop skills like picking up small objects between her fingers, or putting objects into holes, stacking things on top of each other.  These are called fine motor skills, and they were quite challenging for her...even at age 10, she has a hard time locking doors, zipping zippers, putting on shoes, or placing books in a bookshelf.  Is it her vision?  Is it her tactile discrimination?  Is it a nagging inability to use isolated finger movements?  It's quite difficult to know.

What I didn't realize, after Evie started school and was getting services at school and no longer in home, was that OT and PT would once again become very important to us down the road in an "out-patient" setting at the hospitals and clinics in Madison.  We got Evie into OT when she started to have behavioral issues ("meltdowns" if you will).  There were many times that I would actually become afraid because she could grab me and bite me, and had an INCREDIBLY strong grip.  Once I read The Out of Sync Child, I knew that we were dealing with textbook Sensory Processing Disorder.  Evie loved to spin, jump, twirl, ride on carnival rides, fly in planes, bounce...these were all things that seemed to calm her.  The biting was her way of telling me that she felt out of control and unsafe in her surroundings.

The OT recommended an immediate "sensory diet" which consisted of modulated music therapy and the Wilbarger Brushing Technique.  Once we started these techniques, Evie had a developmental explosion...we saw increasingly understandable speech, less frequent and less intense meltdowns, she potty trained (this was much later than other children normally potty train), and she began to walk with more confidence and precision.  It was almost as if she was "in touch" with her body for the first time.

We also had to embark on a new PT journey just a couple of years ago.  Through our participation in the 11p Deletion study at the NIH, we learned that Evie would benefit from orthotics in her shoes.  Once we had an evaluation with a local PT, however, we learned that with therapy, she thought Evie would be able to get by with Super Feet orthotics rather than AFOs or another clinically made orthotic.  Sure enough, after several sessions over several months, Evie's dorsiflex had increased in range (which corrected her toe drop), and she was walking and running better than she ever had before, not to mention a tremendous growth in her endurance for physical activity.

So, which comes first?  OT or PT?  The answer is that it will be different for all of our kids with WAGR, and will be ever changing depending on what will make our kid stronger, more confident, and more capable at any given time.  But it's important to recognize that the two can be closely related and interlocked.  Evie's PT was more successful when she was also immersed with OT and vice versa...they compliment each other quite well in that regard. 

To read more on Sensory Processing Disorder on my blog, you can go to Et Cetera...

To read more on WAGR Syndrome on my blog, go to WAGR or WAGR/11p Deletion...