I'm Fundraising to #CureFDMAS

Harper's Story

Harper was diagnosed early on, as an infant.  She presented with a puffy face, and was admitted into the hospital at just 1.5 months old with high blood cortisol, high blood calcium and very high blood pressure.  It was decided that she would need her adrenal glands removed (Only a small percent of patients have adrenal issues), and would have to take a replacement medication every 8 hours for the rest of her life.  Our bodies produce cortisol everyday, and higher levels when we are sick or under stress.  She can't produce that now, so we give it to her. She'll need an emergency shot if under extreme stress or goes into adrenal crisis, so she'll wear a med i.d. for that. She is also on numerous (about 10) medications, those of which to control precocious puberty, hyperthyroidism, excess growth hormone, and low blood phosphorus.

Harper has had a challenging year.  Since her 2nd birthday last April, she has encountered numerous fractures- right femur, 2 in her left tibia, 2 in her right tibia, her right humerus and surgery last August to correct her bowing femur.  She most recently had surgery to recorrect the right femur and now correct her left bowing femur.  One of the challenges we are faced with is the recommended hardware to go into her legs does not fit a child her age, so she will need to have repeat surgeries until she grows bigger for the appropriate rods.  The surgeon told us that the bone is so soft, that he had to proceed with an alternative plan to straighten the bone.  Since the surgical route is really the only option, we have chosen to continue to give her the best opportunity to stay mobile.  

There is no way to stop the bone from bowing, except to hope for a drug that can someday stop the growth of fibrous dysplasia.  I will do whatever it takes to help her and many other children who are suffering from this disease.  We need help and we need research and resources. 

Harper's case was featured at the national endocrine conference by her endocrine doctor and also featured at the national pediatric conference.  I hope this will help educate doctors to look for signs in patients presenting with a similar problem, and always always listen to the mom.  Without persistance and questions, our doctor probably wouldnt have drawn a set of blood labs that day to determine the initial problem.

 

Read on for more info about FD/MAS.....

FD/MAS is a rare and debilitating disease that has no FDA-approved treatment. It causes bone tumors to grow in place of normal bone, and often causes chronic pain, loss of mobility, hormonal imbalances, skin marks, deformity and more. There's no cure, and no way to slow it down. 

This is a cause that is especially important to me, and I really believe that your support can make a difference for people living with FD/MAS.

Thanks to our partners at the University of Pennsylvania Orphan Disease Center, 100% of the donations to this fundraiser will go DIRECTLY to cutting-edge research grants.

Plus, your donation helps keep Team FD eligible for $30,000 in matching funds from UPenn every year. Don't wait, donate today!

Help me reach my goal and #CureFDMAS!

Want more information on Fibrous Dysplasia/McCune-Albright syndrome?

FD/MAS is a rare and debilitating disease that has no FDA-approved treatment. It causes bone tumors to grow in place of normal bone, and often causes chronic pain, loss of mobility, hormonal imbalances, skin marks, deformity and more. There's no cure, and no way to slow it down.  Bone-forming cells fail to mature and areas of healthy bone are replaced with this fibrous tissue. The severity of the disease covers a wide spectrum. It can affect a single bone and go unnoticed for years or can affect multiple bones or virtually every bone, start very early in life, and result in significant physical impairment, deformity and severe bone pain. FD can also be associated with birth marks (cafe-au-lait spots), and a number of endocrine problems such as precocious puberty, hyperthyroidism, low blood phosphorus, and excess growth hormone. When this occurs, this is known as McCune-Albright syndrome (MAS). The cause of the gene defect in FD/MAS is unknown, but the defect is neither inherited from the person's parents, nor passed on to the person's children. When the long bones (the bones of the legs and arms) or flat bones (ribs and pelvis) are affected, the bones weaken, may bow, are often extremely painful, and will frequently fracture. Affected bones in the skull often expand,cause facial disfigurement and, again, can be very painful both physically and emotionally. 

This Bike Ride POWERS Research

Your contribution to our team will bring us one step closer to beating this terrible disease. Every dollar raised is going to a DIRECT research grant for a treatment or cure for fibrous dysplasia, and the Penn Orphan Disease Center will be matching the money we raise up to an additional $30,000. In our first four years with the Million Dollar Bike Ride, we've raised about $500,000 for FD/MAS research. Funded studies go through a competitive review process. 

This Bike Ride is our search for a cure. It is the most direct way for the FD/MAS community to ask the most pressing scientific questions and fund the most promising therapuetic possibilities for a treatment.

Here's where funding went:

  • 2018:
    • $68,178 to Identification and Characterization of Novel Cell-Permeable, Small Molecule Adenylyl Cyclase Inhibitors for Future Development as Drugs to Treat FD/MAS, Dr. Charles Hoffman, Boston College
    • $68,178 to Single Cell Transcriptome Analysis of Skeletal Stem Cells Derived from FD/MAS Patients, Dr. Fernando Fierro, University of California Davis.
    • $68,178 to Elucidating the Role of GNAS Mosaicism in Fibrous Dysplastic Lesions, Dr. Kelly Wentworth, University of California, San Francisco
    • $68,178 Anti-resorptive drugs in fibrous dysplasia of bone: Studies on the effects of a RANKL inhibitor and Zoledronic Acid in a murine model of the disease by radiography, histology, and genome-wide expression analysis (NanoString), Dr. Mara Riminucci, Sapienza University of Rome. Learn more here
  • 2017:
    • $53,614 to Dr. Mara Riminucci of Sapienza University of Rome for her project: “Exploring the therapeutic potential of RANKL inhibition in Fibrous Dysplasia of bone: studies on murine transgenic models of the disease,” and
    • $53,614 to Dr. Yingzi Yang of Harvard School of Dental Medicine for her project:  “Mechanistic and Therapeutic Studies of Fibrous Dysplasia in a New Mouse Model.”
    • How do these studies fit in to the fight to #CureFDMAS?: Learn more here.
  • 2016:
    • $74,000 to Dr. Mara Riminucci of Sapienza University of Rome for her project:  “Transgenic models of fibrous dysplasia and models of intervention.”
    • How does this study fit in to the fight to #CureFDMAS?: Learn more here or from this update
  • 2015:
    • $58,500 to Dr. J. Silvio Gutkind of Development of Moores Cancer Center, UC San Diego for his project: "Next-Gen Animal Models for Fibrous Dysplasia(FD)/McCune-Albright Syndrome(MAS)"
    • $58,500 to Dr. Mara Riminucci of Sapienza University of Rome for her project: "Mouse Models of Fibrous Dysplasia as a Tool for Developing Rational and Effective Therapies."
    • How do these studies fit in to the fight to #CureFDMAS?: Learn more here or from this update.

For More Details and to Register to Ride

To learn more about the Million Dollar Bike ride, the research grant process, and how you can participate, Check out our page at https://secure.qgiv.com/event/2019mdbr/

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My Supporters

  • Patricia Choe Sorry I missed the ice cream fundraiser today. I was thinking about you!!! Hugs to Harper!! 2 weeks ago
  • Nicole Laccheo So sorry to miss the ice cream fundraiser 2 weeks ago $25.00
  • Barbara Robinson 2 weeks ago $100.00
  • Kim Landry 3 weeks ago $104.00
  • Rory Airhart To my chosen family. Always with you in spirit. 3 weeks ago $312.00
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  • Rory Airhart To my chosen family. Always with you in spirit. 3 weeks ago $312.00
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