The Ticking Timebomb They Sent Home from the Hospital

I'm sure no one thought that when they stuffed the folders at the hospital to send home with new parents they were placing in those folders a time bomb.  

Tick...tick...tick...

A free ninety days (or something like that) of a life insurance policy for your baby named after a popular baby food brand.

Tick...tick...tick...

We took our folder and our baby home, having just learned that she had something wrong with her eyes called aniridia (lack of iris in the eye) and that she might have a rare disease called WAGR Syndrome.

Tick...tick...tick...

WAGR...W~Wilms Tumor (Kidney Cancer), A~Aniridia (Possible Glaucoma, Cataracts, Blindness, and more...), G~Genitourinary Abnormalities, R~Range of Developmental Delays.

Tick...tick...tick...

We were told by our doctor that babies normally eat, sleep, and poop.  If our little girl was doing that, we were just fine.  In the meantime, we were waiting for the results of her genetic testing to confirm or lay to rest the theory that our lives were about to change dramatically.

Tick...tick...tick...

One day, I decided to go through the folder from the hospital.  My maternity leave was filled with fear; I was learning to be a mom for the first time, but at the same time, I was afraid that our baby wouldn't grow old enough to even wear an 18 month sized dress we had received as a gift.  I kept myself as busy as I could, and even filled out the flimsy leaflet that was the application for the life insurance plan with a perfect baby face on the front of it.

"List any health conditions the baby has..." it said...

"Aniridia and possibly WAGR Syndrome" I wrote...

Wasn't I naive?

Tick...tick...tick...

A letter arrives in the mail with a perfect baby face on the front, and the perfect baby lips shaped so naturally I could almost hear the coo.

"We regret to inform you that your baby doesn't qualify..."

Tick...tick...tick...

"This by no means is any indication that we don't believe your child will live a healthy life..."

Kaboom...

...This is life with a rare disease...
...This is life when you feel you may be the only ones...
...This is life before we found the International WAGR Syndrome Association...
...And this is why I, from that day forward, refer to the "anonymous" company's insurance policy as the "Blankety-Blank Throw Up Plan"...

BTW, Blankety-Blank Company, she's 10 (and a HALF) now!

Telling Your Story

If you've never written about receiving a rare disease diagnosis for you or your child, now is a good time.  Rare Disease Day is just a month away, and you can share your story to a large audience and put rare disease on center stage for a day. 

•   Start by identifying your theme.  Do you want to talk about receiving the rare disease diagnosis?  Handling appointments with doctors, therapists, etc?  How your friends and  family responds to a rare disease diagnosis?  Difficulty in accessing good medical care?
• Draft a timeline.  This helps to get your thoughts in a chronological order and will help you recall details that you might otherwise forget to include.  The timeline could be your child’s life up until now, or could just be a specific timeframe like infancy, school years, Wilms Tumor treatment, etc …
•   This is the step I call:  “Throw-up on the paper or the screen”.  In other words, just start typing or writing now that you have laid out a timeline of the events surrounding your theme.  It’s much easier to “tweak” your writing once you have something written out.
• Read through what you’ve written.  Have you made it personal by writing “I” and “we”?  You want to when you are sharing your story.  Have you used all your senses to describe events you wrote about?  Sights, sounds, smells, and the feelings they generated within you.  Have you identified who, what, where, when, why and how?  Be sure to keep privacy for doctors and others by either saying Dr. S or using alias names if you haven’t asked their permission to write about them.
• Have another person read and make grammatical corrections and other suggestions for helping to expand or condense your story.
• Make sure the first paragraph and the last paragraph engage the emotions of the reader, and also point to the theme of your story. 
•   Ex.  Our daughter’s rare disease diagnosis came on the third day of her life.  We had all of our dreams and securities ripped from our hearts.  Suddenly our lives; rather than filled with plans of visiting friends and family to show off our newborn, became filled with doctors appointments, therapist visits, and a scramble to obtain additional insurance to cover our new medical costs.
•   Ex.  While we are 10 years into our journey, we still wrestle with fears of the unknown future for our daughter and her rare disease.  We rely on researchers and lawmakers to take notice of the rare disease community to grant us more security here on earth and to help point us toward and brighter tomorrow.
• Share your story!!!  There are a number of ways to do it, but first visit http://www.rarediseaseday.org/tell-your-story/ and click on the “write your story” icon…you can copy and paste your story and share it with the world.  Post your story on Facebook in your Notes section.  Send your story to your state and national leaders-e-mailing them is easy off of your government’s website.  Be sure you use #raredisease #rarediseaseday and #NORD if you are sharing your story on social media.

A Good Challenge that Doesn't End~WAGR Wednesday

#WAGRzebrachallenge

Believe it or not, I've found a "challenge" that comes with WAGR that I actually ENJOY! 

#WAGRzebrachallenge

#WAGRzebrachallenge

I thought it would be "neat" to run a challenge for a "week" that would create a little excitement on Facebook to see how many people we could have posting pictures of themselves with zebras, or with people with WAGR, or dressed up as zebras...just a little something fun which doesn't involve pouring ice water over ones head.

"Neat" doesn't begin to describe it...and apparently "a week" isn't long enough to do it.

And, apparently, when the Brits and the Aussies get going, they JUST.DON'T.STOP. 

I'm not kidding you!  So, in the first week we had about 112 Facebook posts!  Cool.  My blog had seen a great boost in readership, and it was all about WAGR, so that's an EXCELLENT sign that we are raising awareness.  Yay!

Then I was out for the day, but saw a message from a friend in England who said, "I think you quit too soon."  Hmmm...well, when I logged in to Facebook and saw all the new tags I had in people's photos, I knew what she meant.  There was a huge response to her #WAGRzebrachallenge.  I was being tagged in photos around the world!!!  LITERALLY!

#WAGRzebrachallenge

 

Then, there are the Aussies.  Oh my goodness...a small and mighty group Down Under.  They were just WAITING to explode with black and white stripes.  There has been a 30% increase in #WAGRzebrachallenge posts since the Aussies joined us in this endeavor. 

So, since August 20th, there have been posts from Japan, Australia, England, Scotland, Dubai, Jumairah, Greece, Turkey, Bulgaria, Hong Kong, Canada...AND MORE! We have also had pictures posted from (as near as I can track) about 28 of the 50 United States. 

The Facebook page for the International WAGR Syndrome Association has had 26 new "likes"...having started the challenge with 304, that's a pretty significant increase!

My personal blog, the one you're reading right now, usually has about 1,000 views on a busy month; but in the past month has had over 2,500 views. 

Truly, this has been an amazing outpouring of support.  I'll be turning this all over in my head to plan how we can recognize Rare Disease Day 2015 by doing a similar challenge (and I'll be sure not to take any teaching jobs during that time so I can sit captive to my laptop and mark down all the BILLIONS of posts.)  I'll be excited to share this story with the people I meet in November when I attend the regional conference for NORD, the National Organization of Rare Diseases!

If you aren't familiar with Rare Disease Day (RDD), you can read my post from RDD 2014 "Why Care that We're Rare?" It's always easy to remember WHEN Rare Disease Day happens because it's ALWAYS the last day of Februrary...since February is a rare month with 28 or 29 days, that makes it the logical choice!  Mark your calendars NOW!

Thank you, again, for the response to the #WAGRzebrachallenge, and for continuing to learn more about, and spread more awareness of, WAGR/11p Deletion Syndrome.  Our families are forever grateful for your love and support.

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?