August Ann Inspired

“When you hear hoofbeats, think of horses, not zebras.”

 

But what if those hoofbeats are in fact, a ZEBRA…

When our Abby Lew was diagnosed in 2009, just three days after she was born, with a Urea Cycle Disorder, we quickly learned that we were now the proud parents of a zebra. In the medical field, a zebra is a surprising or rare diagnosis…not the more common, everyday issues/diagnoses that a doctor looks for FIRST when a patient comes in with symptoms. A disease or disorder is defined as rare in the United States when it affects fewer than 200,000 Americans at any given time.

This week marks the observance and ten year anniversary of the very first Rare Disease Day. The first one was held on February 29, 2008, a “rare” date that only happens every four years. And so, the last day of February every year since, has been Rare Disease Day. The first year only 18 countries participated. Last year, 94 countries participated. Here are a list of facts about rare diseases compiled by The National Organization for Rare Disorders (NORD)

  • 80% of rare diseases are genetically based.
  • 50% of rare diseases affect children.
  • 1 in 10 Americans has a rare disease.
  • 7,000 rare diseases exist, with less than 500 FDA-approved treatments
  • Many rare diseases result in premature death of infants & young
    children or are fatal in early adulthood.
  • Families & private foundations provide about 3% of ALL medical research
    funding in the U.S. for rare diseases
  • 95% of rare diseases have NO TREATMENT AND ZERO CURES

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Those are the facts. Here are some of the problems that those of us living with rare diseases, or caring for a child with a rare disease face.

  • Lack of quality information and scientific knowledge. 
    • Please, Jesus, if you have just had a child diagnosed with a Urea Cycle Disorder, DO NOT GOOGLE IT, unless you want to have the sh*t scared out of you. The National Urea Cycle Disorder Foundation is a good place to start. Also, this…the Access To Credible Genetics Resource Network created the Trust It or Trash It tool to help parents or caregivers decide what medical information is worth reading, and what is not.  Please just don’t willy nilly be reading articles about UCD’s or any other rare disease floating around the internet. Promise. You’ll thank me later. Too little information. Outdated information. I think I’m still slightly scarred from that, and basically NONE of what I read after Abby was born, while I was doing those late night searches trying to ease my mind somehow, has come to fruition. THANK YOU GOD.
  • Misdiagnosis
    • Relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment.
      • Abby was life-lined to Riley Children’s Hospital within 12-15 hours of being in our local hospital’s emergency room and the metabolic team that treats Urea Cycle Disorder’s was there waiting for her. Thankfully after hours of testing her for all of the most common issues in newborns at our local hospital, a very seasoned doctor came in for her shift and immediately ordered an ammonia test. Once that came back VERY elevated, she knew it was our of her hands and contacted Riley. Based on that ammonia, Riley knew they needed their metabolic team ready to greet her. THAT IS NOT ALWAYS THE NORM. Many of these UCD kids go undiagnosed so long that irreversible brain damage is done. These local hospitals ARE NOT LOOKING FOR ZEBRAS.
    • Misdiagnosis can lead to further damage and in some of these rare diseases, including Urea Cycle Disorders, DEATH. Time is of the essence.
  • Financial Burden
    • Hospital stays
    • Time off of work
    • Food while at the hospital
    • Extra transportation costs to get to hospitals that many times are NOT LOCAL
    • Special dietary foods…Abby is on a low protein diet. A box of low protein pasta costs TEN DOLLARS! Just one box!
    • ORPHAN DRUGS
      • Thank God for the Orphan Drug Act of 1983. Before that act there were only TEN products developed for rare diseases. Today, there are over 500. However, these companies, under this act, can charge WHATEVER THEY WANT. Abby is on a medication that costs A QUARTER OF A MILLION DOLLARS A YEAR! That equates to approximately $200 A DOSE! She takes that medication 4x a day. Holy Moly.
      • That drug, Ravicti, comes with an $8,000 co-pay at the beginning of every year. A BIG HUGE THANKS to the co-pay assistance companies like Good Days for easing some of that financial burden.
  • Research
    • It takes money. Lots and lots of money to conduct research. Rare diseases are not so widespread that millions of Americans are coming together and contributing.  3% of ALL medical research funding in the U.S. for rare diseases comes from FAMILY MEMBERS and private foundations.
    • The pool of people available to use for research is small.  Those available to participate in clinical trials, to get new drugs and treatments on the market is not the same as if it were a new blood pressure medication. It takes ALL of us in this community to step up and do our part for the greater good and PARTICIPATE, if at all possible. Abby has now participated in three clinical trials. She is currently still enrolled in the most recent one. They are tedious. A lot of work. Travel (at times). They an be taxing and stressful. But in the end, it is a commitment to progress and we are grateful we can contribute.

Parenting is not for the faint of heart. Parenting a child with a rare disorder is especially NOT FOR THE FAINT OF HEART. You have to put that shield and armor on Every. Single. Day.  We live in a constant state of worry. It can be downright terrifying. It can be so, very, lonely. We reach out and cling to those parents that GET IT, because they live the same life that we do, when so many others just have NO IDEA the struggles we face on a daily basis. We explain our kid’s conditions to people who have never heard of them OVER and OVER and OVER again. The future is scary, because there are SO MANY UNKNOWNS. And so, we are hope warriors. We have to be. Sometimes, many times, HOPE IS ALL WE HAVE.

Oh, and did I tell you…we don’t have just one zebra in our family anymore…we have two. The chances of that happening, less than 5%, at best. We welcomed little baby Harper, our great-niece, last March, who shortly after birth was diagnosed with the exact same Urea Cycle Disorder as our Abby.

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She is getting ready to celebrate her first birthday. She is thriving, just like Abby has thrived. Strongest, bravest girls I know.

Rare means nothing to us. 

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As always, thank you for reading!

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3 Replies to “{We Have A Zebra}”

  1. Hi Katie. Our 2 yr old son Porter has a UCD, OTC deficiency. What form of UCD is Abby diagnosed with?
    I’ve enjoyed your posts. So much about the diagnosis and life with UCD is the same among the families, yet the disorders have small nuances that make every case unique.
    Porter received a liver transplant last summer. He has adjusted well and we know it was the right choice for him.
    Thanks again! We’ll be wearing our zebra ribbons this week!

    Liked by 1 person

    1. Hi there! Abby has ASA! She has been very stable since diagnosis, thankfully. It is interesting how each of them are so similar but in a lot of ways they are like comparing apples to oranges. So happy to hear your little guy is doing well! I’m sure life has been stressful, to say the least, walking the transplant path, but I have no doubt you made the best choice for him. Thank YOU for reading! P.S. I need a zebra ribbon! 😂

      Like

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