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Living With Rare Diseases

People living with rare diseases often display unusual courage, tenacity, and grace in dealing with extraordinary challenges. We present a few of their stories here.


annetteIn 1992, Antje was diagnosed with a rare blood disease known as Essential thrombocythemia. As part of her treatment, Antje has taken medications that decrease the bone marrow’s production of blood cells. While ET is considered a serious disease, Antje worked until age 60 in a busy medical practice and now enjoys an active retirement where she volunteers within the MPN community. Learn more about Antje's story.




annetteBill was a volunteer firefighter before being diagnosed with Myelofibrosis in May 2012. With the help of an orphan drug, blood transfusion, and stem cell transplant, his health has improved. Bill now uses his free time to help people going through transplant, as well as raise awareness about MPNs. Learn more about Bill's story.





annetteAnnette was health-conscious and passionate about outdoor adventures, but shortly after the birth of her daughter, she experienced unusual symptoms, including fatigue, ringing in her ears, dizziness, visual disturbances, and extreme weight loss. She was diagnosed with a rare blood cancer, but information about it was scarce. This inspired her to organize Trek for a Cure to fund research and help others with MPNs. Learn more about Annette's story.




stephanieAfter living for 10 years with a progressive undiagnosed neuro-degenerative condition, Stephanie did not dwell on her own suffering. She compassionately organized a fundraising event to benefit all people struggling with undiagnosed rare disorders. Learn more about Stephanie's story.





lulu-livingMy husband, Robert, calls my rare disease a “brutal and unkind disease”.  But it all began with very mild symptoms … numbness in three toes on my left foot. Learn more about Lulu's story.






ben-livingWhen my parents brought me home from the hospital as a newborn, my sister and grandmother were waiting for us to celebrate our homecoming.  Everyone in the family was excited, but my parents couldn’t help worrying about the fact that, even for a newborn, I seemed unusually sleepy and lethargic. Learn more about Ben's story.





paige Paige visited the NORD offices recently with her mother and grandfather. Her story is unique but, sadly, also representative of many others because Paige has never received a full diagnosis for her medical problems. Many people with rare diseases remain undiagnosed for several years…or even for a lifetime.

Paige was a healthy baby at birth, but an illness just before her first birthday resulted in seizures and the beginning of many trips to the hospital. Since then, Paige has had eight MRIs, two muscle biopsies, four spinal taps, hundreds of blood tests, numerous EEGs, and many other tests.

But, while Paige’s family now knows a little more about her specific symptoms, they don’t know exactly what transformed their healthy baby into a child with multiple medical problems.


bernadette Both her father and grandfather had the same rare condition that Bernadette Scarduzio has but they were affected in a milder way. For Bernadette, the disorder progressed quickly and has significantly altered her life.

Her condition is Charcot-Marie-Tooth (CMT) disease, named for the three physicians who first identified it in 1886. Though she is just in her early 30s, Bernadette has had 20 surgeries over the years on her ankles, feet, toes, and hands as a result of this neurological disorder. CMT causes pain, muscle weakness, a distinctive gait, and frequent falls.

“I’ve had some tough times but it’s made me stronger,” says Bernadette, who is teaching others about this disease through a documentary she is producing with friends. She was also interviewed recently by The New York Times.


Bryn.jpg Bryn grew up in Wales and loved competitive sports such as rugby and squash. One day years ago, he fell while playing squash and that was the first of a series of mysterious events related to muscle weakness.

Eventually, Bryn was diagnosed with primary progressive multiple sclerosis (MS). Most people with MS have periods of remission. For the small percentage with Bryn’s type, however, the disease is steadily progressive.

In spite of his medical problems, Bryn has traveled the world as an executive for a company based in the U.S. He and his wife, Pat, raised two sons and have found that their loving relationship and a resourceful attitude have seen them through the difficult times.

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