WAGR Wednesday~Why Care that We are Rare?

This week, for WAGR Wednesday, I thought I’d highlight the fact that Rare Disease Day 2014 is this Friday, February 28^th.  But what does that mean?  Why is Rare Disease Day important? 

Prior to having a daughter with a rare disease, I probably would have asked the same question.  I would look around at all the diseases that exist, (just talking about the different types of cancer can boggle the mind), and I would think, “Why is RARE disease so important that we have to take a day aside to recognize it?”

It’s more than the fact that for the first few years of Evie’s life, whenever we had to run to Urgent Care or the ER where the doctors didn’t know her, I often felt like the side show at a circus: 

Step inside and see the girl with no irises!

Can you believe it folks?  She’s shows no facial expression because she can’t smile due to the neuropathy from her chemotherapy! 

Look at this, Ladies and Gentlemen; she has a temperature of 97.1 degrees Fahrenheit AND has a raging case of pneumonia!

It’s more than the fact that we had to wait for months to get her approved for Medicaid because they had to research WAGR Syndrome before approving her; AND we had to go through a court of appeals AND have Disability Rights Wisconsin argue on her behalf to get her into a county assistance program, because it’s hard to prove certain things when there is little documentation regarding the extent of the “effects” of WAGR.  

The importance of Rare Disease Day extends far beyond those reasons.   

Rare Disease Day is important because there is very little money invested in the research of, and treatment of rare disease.  Big pharmaceutical companies aren’t non-profit businesses; so why would they think it’s important to create a medication for a small population of people worldwide?  It’s also hard to convince the doctor, who needs some publications under his or her belt, to spend time researching a disease that would be difficult to recruit participants for, would be costly, and would not likely lead to mind-blowing revelations regarding the general human race. 

Rare Disease Day is important because ALL of the rare diseases combined become a unified voice of clarity.  

We ARE important.

We CAN make an impact.

We DO matter to the general population, because the RARE genes that make up RARE disease hold the secret answers to the medical questions which have baffled scientists and doctors for ages. 

For example, the research on WAGR/11p Deletion Syndrome that has been taking place at the NIH has already yielded amazing results like identifying and reinforcing the knowledge of the correlation between obesity and the deletion of the BDNF gene (accessible at:  http://www.wagr.org/obesitybdnf.html).  

  

The research has also shown that many people with WAGR/11p Deletion are missing, or have an under-developed pineal gland, which produces hormones that help regulate sleep.  Knowing that there may be a decreased release of melatonin (one of the functions of the pineal gland) in persons with WAGR/11p Deletion, and that oral melatonin supplements can help them sleep is critical in enhancing their lives.  After all, chronic sleep deprivation isn’t fun for ANYONE!

So, to help show law-makers, researchers, and large pharma companies that rare disease IS important and serves a larger population than they seem to believe, we celebrate Rare Disease Day.  To help our communities, friends and relatives understand that; yes, we have valid struggles, and yes, we have justified hope…we celebrate Rare Disease Day.  To help our rare families around the world feel connected to others; to say, “You are not alone,” we celebrate Rare Disease Day.

Finally, to help me live out MY passion; which is making a difference in this world~to this world; to show the world that BEAUTY can be born from HEARTACHE…

...I will CELEBRATE Rare Disease Day…

Will you?

My "Not So Flattering" Moment at the Local Pharmacy

In my commitment to follow the post topics set forth by WEGO Health for National Health Blog Post Month, I MUST write today about the most embarrassing situation that my, or in my case, my daughter's health condition put me in.  Let's face it though, when you read this, you'll understand that it was I, and I alone, who put myself in this embarrassing situation.

First, I'll set the stage.  Jeff was out of town for a training in Iowa.  Evie was probably 2 or 3 years old.  I was working fulltime at a dental office in downtown Madison, about a 40 minute commute with traffic to work.  I had one of the days that Jeff was out of town off because I was scheduled to take Evie to her routine ophthalmologist check up with Dr. Struck.

So, here we go...

I got Evie ready to go to Dr. Struck's.  We had breakfast, we were dressed, and I just needed to give her the morning eye drops for her glaucoma.  I gave her the drops and she wiped her eye and started to fuss.  Evie had a speech delay, so we didn't have a lot of help when it came to determining "what was wrong" when she fussed.  I just ignored it, figuring it was typical toddler behavior. 

I got Evie into the car, opened the garage door and put the keys in the ignition.  Turned them.  Nothing...just a stubborn, hallow click.  Evie noticed something was wrong and started to get even sassier in the back seat than she had already been.  I said, "Evie, we're fine.  I'm going to call Grandma." 

I got out my cell and called Grandma Rita.  I didn't want to take Evie back in the house, because I figured it would only make her more disgruntled to be shifted from one place to another.  I explained my situation to Rita who was at work just down the road from our house.  We agreed that she'd drive over, I'd drop her back off at work, and Evie and I would take her car into Madison for the eye appointment. 

Okay, we are on the road!  Should be smooth sailing now.  But, hmmmm....Evie Jo was still playing the roll of Ms. Whiney Cranky-Pants in the back seat.  What was the deal????

After a LONG, toddler-sobbing filled ride to Madison, Evie and I arrived at Dr. Struck's.  She fussed the whole time in the waiting room.  We were taken back to the room and Dr. Struck said, "Has she been like this all the whole time?"  I was like, "Yeah, I don't what her problem is.  Our car wouldn't start so I think that threw her off."  But he noticed that she seemed to be rubbing her eye and tearing mostly from the right one...THE GOOD EYE.  Yes, the only eye that really still worked. 

Dr. Struck grabbed a bottle of drops and plopped one in Evie's eye and then shined a light on it.  There was a fluorescent yellow stain smeared across her eye.  "That is a very scraped eye, that would explain all the tears.  It must hurt a lot."  He looked at me again, "Did she have an appointment today, or is this why you came in?"  "No," I said, "This was just a regular appointment, I had no idea she scratched her eye." 

A scratched eye is bad news in a regular healthy eye.  A scratched eye is TERRIBLE news in an aniridic eye.  The aniridic eye is very immaturely constructed...it has no iris for protection.  Dr. Struck said that there would be no exam today, we would need to get an ointment to heal the eye.  We had to return to the office the next day so he could ensure the eye was healing properly otherwise we would have to try something else. 

Oh, brother. 

I gathered up my screamy-meamy Evie, now feeling remorseful that I had been so impatient with her fussiness, and we headed for home.  Since Evie was still screaming, AND I had to call work to tell them that I would not be in the next day because I had to take Evie BACK to the eye doctor to check on her scratched eye, AND because I had to pick up the ointment at the pharmacy so we could start trying to heal Evie's eye...I called my mother in law and asked her if she could possibly come to our house and stay with Evie while I tried to do all these things at once.  She said she would, so we picked her back up from work, I dropped her and Evie at our house and I went to the pharmacy to get this precious ointment which would soon restore peace, and tranquility to our lives. 

There was only one problem.  The pharmacy didn't carry that ointment, it wasn't a very commonly prescribed one.  They could order it and it would be in the following day.  Nope!  That doesn't work!  I need to have this eye HEALED by tomorrow.  "We can see if Walgreens in Verona has it."  (There was no Walgreens in Mount Horeb yet.)  Fine.  They called Verona.  Yes, Walgreens had the ointment, I could come and pick it up.

Great.  Whatever.  Now I have the loaner car, another trip to make that would take another 20 minutes at least, and a screaming child to take with me.  I remember something that I had forgotten about at our pharmacy, so I turned back around to the technician and asked, "Can I pick up her blood pressure medications I called in the other day?"  The technician goes aside to check for the prescriptions.  "Those haven't been filled because they weren't cleared through Medicaid yet." 

Steam began to escape from my ears.  My cheeks flushed. I imagine I looked like Fred Flintstone when he would get hopping mad.  "Are you KIDDING me?  I called those in days ago.  Why haven't I been called?   I have a broken car, a screaming child and ointment that I have to drive all around to find, and you can't even fill her blood pressure medication that was called in two days ago??????!!!!!!!!"

That's right.  I WAS the screaming, ranting, tyrannical lady at the pharmacy.  I was sobbing.  I was choking.  I was ready to punch a wall.  "Okay," the manager stepped in, "We can get them filled and we will bring them to your house later today."  I don't recall much else aside from this offer, which DID bring me some peace.  I turned to leave  and a lady behind me in line said, "Is there anything I can do?"  I said, "No, there's nothing anyone can do.  It's all just a mess." 

Off we go to Verona.  I picked up Evie at home and dropped Rita back at work.  Evie and I made our way back down the highway to Verona in search of the precious eye ointment; which was beginning to feel more like an epic quest for the Holy Grail than for a .3 fl.oz. tube of goo. 

I approached the pharmacy counter with my whimpering child in my arms, and likely a frazzled look of insanity on my face.  In my delusional state, I may have even sounded like a mobster as I said, "I...need...ointment...Do ya hear me, Punk?"  Well, maybe I didn't say it quite like that.  Yet...

"I'm here to pick up a prescription for Evelyn Hefty, they just called from the Mount Horeb Pharmacy." 

"Oh, we're still waiting on Medicaid to approve that."

Say what now?  "No, no, no.  That is unacceptable."  I began in my I'm-on-the-verge-of-another-breakdown voice.  "I need it now, I'm not waiting.  I've been driving around all day, with a screaming child, sent from one place to another.  My car broke down.  I can't go into work.  I NEED THAT OINTMENT NOW!" 

"But we can't release it to you until insurance approves it." 

"Give me the ointment.  Give it to me now.  I will pay the difference." (I don't need to explain to you all at this point where my mind was going.)

"We can't do that."

"Listen to me.  I will give you the MONEY.  Give ME the OINTMENT NOW!  How much is the copay after our private insurance?"

"Ten dollars."

"What?  You're putting me through this for $10?  I would give you a hundred dollars right now!!!  Give me the ointment!"

I'm pretty sure I threw the money at him.  I didn't care.  No one cared about me right now, why should I care about them?

I've blacked out on what happened after that.  I got the ointment.  We made it home.  Evie's eye healed MIRACULOUSLY...Dr. Struck was very happy with how it had healed up by the next day. 

On her left sleeve you can barely
see the little bump of the clear plastic tag hanger.
 

A couple days later I had some photos developed and saw a picture I had snapped of Evie the morning of the entire fiasco.  She had on a new shirt from Christmas that said, "Small in Size, Big in Attitude" on it.  My eyes were drawn to her shirt sleeve down by her wrist.  On it dangled, barely apparent to the naked eye, one of those plastic price tag holders that we have all cleverly figured out how to pull off with our teeth or a strong tug.  Sure enough, I had put the eye drop in Evie's eye before the appointment that fateful day, and she had a fairly natural reaction to reach up and wipe the excess fluid away with her sleeve...in the process, that darn price tag plastic hanger-thing had scratched her eye all to heck. 

So...there it is...the UGLY story of my total breakdown at the poor pharmacy staff.  Thankfully they still allow me back in, and I am forever grateful for this wonderful town accepting me and all my unpleasant, embarrassing moments.  Often I would be asked by co-workers when I worked at the dental office, "How can you be so nice to that person when she (or he) is so mean?"  I would just stare off into a distant day in my past and say, "Because I AM that person."