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Circle of Love, A monthly e-newsletter for The Pride: 
How Do You ROAR? The Great Human Race, Rare Disease Spotlight: PI, Our Story, THINK ZEBRA, World PI Awareness Week, #UndiagnosedDay, Rare Disease Day is Everyday NC Legislative Event, ROAR Spotlight: Johanna Blue and The Lorelli Fitzpatrick Fund
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Luka The Lion Foundation

A 501(c)(3) nonprofit organization that raises awareness for pediatric rare diseases and supports patients and their families so nobody ever feels alone.

Circle of Love, April 2016
A monthly e-newsletter for The Pride

@LukaTheLionwww.lukathelionfoundation.org | FB Group

How Do You ROAR?

You are The Pride, and the Luka The Lion Foundation exists because of you and your support. Kids with rare diseases and their families thank you. In this past month, here's how we ROAR:
  • Thanks to ABC11 Together for raising awareness about the importance of anonymous bone marrow donors to treat kids with rare diseases at the Match Madness Bone Marrow Registry Drive on March 19, 2016. The Drive added hundreds of people to the registry and gives hope for a match to patients with rare diseases like Sheldon. For the story including Luka The Lion Foundation founder, Julia: click here
  • Maia, a proud big sister, participated as a Kid Co-Captain and in the Talent Show on stage showcasing her art "for Luka," at the Carolina For The Kids UNC Dance Marathon April 1-2, 2016. This student-led philanthropy organization raised over $600,000 this year for UNC Children's Hospital
  • 3 patients and their families received individualized support ranging from busy bags to a complimentary pampering session and specialized cream for side effects to treatment. 
  • 2 volunteers donated their platelets at UNC Blood Collection Center on April 14, 2016 to honor Maks' would-be 6th birthday so that patients at UNC can receive a potentially life-saving infusion. 
  • #LukaTheLion Scarf Challenges:
    • Match Madness -- Thanks to patient advocate Sheldon Mba
    • Springtime 10K Tallahassee -- Thanks to runner and friend Alex Lockridge
    • Central Park Start Line -- Thanks to runner and friend Tony Majewski
    • Washington Monument -- Thanks to friend Allison Bashor
    • Late Night With Roy from October 2015 -- Thanks to Coach Roy Williams and the UNC Basketball Team, we're proud of you no matter what the outcome
  • Ran, walked, or Zumba'ed a total of 59 miles during April 2016 (so far) in honor of National Primary Immunodeficiency Awareness Month and to prepare for The Great Human Race 5K on April 30, 2016 (REGISTER here with promo code LukasGHR). Thanks to charitymiles.org for tracking our progress and uniting Team #LukaTheLion to benefit the Leukemia and Lymphoma Society for each mile along the way. 
  • Celebrated Dr. Philip Roehrs on Doctor's Day on March 30, 2016 (and every day!) by roaring for rare diseases. Our hope is that through the Luka The Lion Foundation, we can help doctors like Dr. Philip support kids and their families, holding their hands each step of the way as they bravely fight rare disease together.
  • Engaged with partner organizations including Be The MatchUNC Hospital, NC Rare Disease InstituteOak Foundation, and Be Loud! Sophie Foundation
  • Participated in the Individual Donor Benchmark Survey from Third Space Studio and found that during the December 2015-March 2016 gofundme and mail in campaign to crowd source the Luka The Lion Foundation, we received donations from 193 individuals! YOU are The Pride, and kids with rare diseases and their families thank you.
  • Thanks to all who voted for us in the Booster kid's non-profit campaign which gives the Luka The Lion Foundation a chance at a $5,000 grant.
  • Looking forward to a Luka The Lion Foundation Board Meeting on May 22, 2016 with the theme "Narrowing the Focus."
How do you ROAR? Email us, Tweet Us, or join our public Facebook group 

UPCOMING EVENTS, AWARENESS & SUPPORT
 

 
The Great Human Race
Saturday, April 30, 2016 8:30 am
Durham Bulls Athletic Park 


How You Can Get Involved to Support Kids with Rare Diseases and Their Families 
1. Join us! Click here to register to run or walk The Great Human Race 5K around beautiful Durham Bulls Athletic Park, downtown, and the Forest Hills neighborhood. Be sure to use PROMO code LukasGHR so that $5 from your registration goes directly to the Luka The Lion Foundation -- and, join our team by selecting #LukaTheLion.  

2. Become a peer fundraiser through the online donation page if you're interested in asking others to support The Pride -- all proceeds will go directly to raising awareness for pediatric rare diseases and supporting patients and families so they never feel alone. 

3. Read about how I got motivated by Charity Miles to get moving for a cause, and you can, too! "How I Just Kept Running and Running For a Good Cause, And You Can, Too" 


Rare Disease Spotlight: Primary Immunodeficiency Diseases (PIDD, or simply PI)

Although Luka's rare disease doesn't have it's own name (yet), his undiagnosed disease is under an umbrella of 250+ conditions called "primary immunodeficiency diseases," or PI, which means that part(s) of the immune system is missing and/or does not function properly. Some patients have low B cells and need monthly infusions of immunoglobulins to fight common infections. But, in Luka's case, and for patients born with Severe Combined Immunodeficiency Disease (SCID), these are the most extreme examples of a PI disease. Without the hope of a bone marrow transplant or experimental gene therapy, kids born with SCID or rare SCID-like diseases usually have a life span of one year. Click here to read more about SCID, sometimes known as the "bubble boy" disease in honor of David Vetter
 
Our Undiagnosed PI story: This photo was taken of Luka at 20 days old during his first hospitalization at UNC after receiving a G-CSF injection to stimulate his bone marrow to make neutrophils (components of the white blood cells that fight infection). I remember being overjoyed that he was awake and alert, as he had been very lethargic since birth. After battling failure to thrive and a growing skin infection despite antibiotic ointment his first two weeks of life,  a simple blood test at a general pediatricians office indicated Luka's absolute neutrophil count was 0. The doctors even repeated the test since "they had never seen a 0 before." After the same result repeated, we were sent to UNC Children's Hospital and met Dr. Roehrs who prescribed G-CSF. Just 10 years ago, this treatment wouldn't have even been possible.  At the time, it was suspected that Luka's condition may be worse than not having neutrophils, or "neutropenia" given how early he presented and other factors. Little did we know at this time how extensive his unique condition was, enduring what seemed like endless diagnostic, genetic, lab, and whole exome sequencing testing in his first 12 months of life. From that testing, we found that there were other components of Luka's immune system that were missing, yet he didn't fit into the classic SCID diagnosis, he had four gene mutations one of which was novel and hadn't been seen before, and after several mysterious bacterial and fungal  blood infections, it was determined that his bone marrow wasn't compatible with life. Yet that original diagnosis code of "neutropenia" followed him wherever he went, even though it was more of a symptom of his overall undiagnosed disease -- causing confusion all along the way. When residents entered the room assuming he "just had neutropenia" since they hadn't read his entire chart closely, or when we were denied social security disability several times since there was no box to select that this original diagnosis of neutropenia wasn't all encompassing of the severity of his overall undiagnosed, unique disease. 

So, as you can see, PI diseases aren't always straightforward and are often difficult to diagnose. According to World PI Week, 70-90% of patients who have a PI are undiagnosed, meaning either (1) their symptoms do not fit into a classic diagnosis, (2) doctors are not able to identify a diagnosis, and/or (3) the patient/family isn't aware of the condition yet. Unfortunately, when you are undiagnosed it's easy to fall through gaps in the healthcare system and feel alienated not only from society, but even the medical community. Kids and families who face these rare, undiagnosed PI diseases are in even more need for someone -- a doctor, nurse, social worker, therapist, volunteer --  to hold their hands, ask questions, and listen so that they never feel alone.
 

THINK ZEBRA! From our friends at the Immune Deficiency Foundation (IDF), the PI community often identifies with zebras. This is based on an old saying. In medical school, many doctors learn the saying, “when you hear hoof beats, think horses, not zebras” and are taught to focus on the likeliest possibilities when making a diagnosis, not the unusual ones. However, sometimes physicians need to look for a zebra. Patients with PI are the zebras of the medical world. So IDF says  #THINKZEBRA! 

           

World PI Week
April 22-29, 2016 

World PI Week is a global campaign which aims to raise awareness and improve diagnosis and treatment of primary immunodeficiencies (PI).

     

#UndiagnosedDay
April 29, 2016
Initiated by Syndromes With A Name (SWAN) and galvanized by the Rare & Undiagnosed NetworkUndiagnosed Day raises  awareness among the general public and decision-makers about undiagnosed diseases and their emotional, physical and financial impact on the lives of the patients and their families. Since 80% of rare and undiagnosed diseases have identified genetic origins, it is imperative to raise awareness for the importance of genetics in the diagnostic odyssey of undiagnosed patients.
  • Do you know someone who is undiagnosed and doesn't have access to insurance and/or resources for whole exome sequencing? Click here to explore the SWAN application (completed by a physician) and submit by April 29th for this opportunity. 
  • For more information about national resources for the undiagnosed disease community, check out Harvard's Undiagnosed Diseases Network funded by the NIH. 

To The Parents of a Child Waiting for a Diagnosis (The Mighty)
"Never in my wildest dreams did I realize it could take so long to have a specific medical diagnosis. Or that a diagnosis may never be clear. Or that the “gray area” of science would lead to the possibility that the diagnosis is “unique to your child.” Or that the diagnosis doesn’t even have a name yet. We can’t be the only ones. We know there are countless other children and parents across the medical spectrum waiting for a clear diagnosis just like us." Click here to read the whole letter.

Rare Disease Day is Every Day NC Legislative Event
June 7, 2016 9:00 am - 5:00 pm
NC General Assembly Legislative Complex, 1100 Courtyard

Educational event hosted by the NC Rare Disease Institute that brings together patients, advocates, clinicians, researchers, pharma, biotech and more to collaborate on issues that matter to the rare disease community. More information coming soon!

More rare disease patient stories: 
Mary Boland's One-To-One Fund: Currently treated at the NIH for a very rare disease and in need of a bone marrow transplant (The Bone Marrow Foundation)
Molecular Answers Found For Mysterious Rare Immune Disorder: Hope for a family with a rare genetic PI disease (NIH)
Kids with Rare Disease May Hold Secret to Stopping Viruses: Kids with rare diseases can often inform research to help others with more common diseases (NBC News)

 

ALWAYS REMEMBER TO ROAR!

People ask us, "What does it mean to ROAR?" It's entirely up to you and how you uniquely show the characteristics of a lion: bravery, strength, beauty, resilience, and support through The Pride. You can ROAR by running or walking for a cause, donating your platelets or financial contributions to support others directly, holding up the #LukaTheLion scarf on top of a mountain or at the end of a race, raising awareness about rare disease creatively through art, writing, or dancing. Whatever you do, just ALWAYS REMEMBER TO ROAR!

ROAR Spotlight: Johanna Blue
When Johanna isn't taking care of kids and their families on 5 Children's or graduating with a Nurse Practitioner's degree, she's either training or running a MARATHON for a cause benefiting the Leukemia & Lymphoma Society. Johanna is running the Boston Marathon on April 18, 2106 for UNC Children's, and we are honored that she has a lion patch on her singlet and a #LukaTheLion scarf in tow. It's no coincidence that even when Luka was fighting the most, he would walk with encouragement from Johanna. Now, we're honored to cheer you on each step of the way -- YOU got this, Johanna -- ROAR!
 

ROAR Spotlight:The Lorelli Fizpatrick Fund
We are honored to know and love the beautiful extended Lorelli Fitzpatrick family -- including all their lovely chickens! From birthday parties to Christmas Caroling to donating to help kids with rare diseases -- this family is the definition of generosity and faith. And just look at their beautiful chickens -- ROAR!
 

You are The Pride! Tell us how you ROAR for kids with rare diseases or donate online to support a patient and their family with individualized support, a parking pass for the day, a meal away from the hospital, or medical research. You can also make a check out to "Luka The Lion Foundation" and hand deliver or mail to: Luka The Lion Foundation 1521 Valley Run Durham, NC 27707. 

Your support means the world, and kids with rare diseases and their families thank you.

Always remember to ROAR,

Julia and Zach Fisher on behalf of the Luka The Lion Foundation Board of Directors

For more about our story, visit: www.lukathelionfoundation.org 

 
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