Jefferson Award Honors Doctor Determined To Cure Rare Disease HIBM
Through media partnerships throughout the US the Jefferson Award organization, which was co-founded by Jacqueline Kennedy-Onassis in 1972, acknowledges and honors people who have made a difference in their community. The media group ABC7 selects one person in Southern California each month.
This month it was Dr Babak Darvish, Co-Founder of ARM (Advancement for Research for Myopathies), a non-profit organization that aims to speed up bio-medical research on IBM2, the Autosomal Recessive form of Hereditary Inclusion Body Myopathies (HIBM).
Darvish's story, "Doctor determined to cure rare disease", was profiled on abc7's KABC-TV Eyewitness News on Friday, July 24, and tells how he spends all his spare time in pursuit of his goal to find a cure for HIBM.
Darvish himself has the disease and now treats his patients at Veteran's Administration Hospital in Los Angeles from a wheelchair because he is slowly turning quadriplegic.
He first noticed something was not right while he was at medical school. He experienced muscle weakness and found it difficult to play his guitar. His older brother Daniel, who was also studying medicine, began to have similar symptoms.
Darvish said in his interview that the brothers realized their muscles were "wasting and degenerating".
The brothers, who were then in the 20s (1997), decided to dedicate their lives to research and finding a cure and that is when they founded ARM.
Thanks to the organization we now know that HBIM is a group of rare/orphan genetic disorders that cause progressive muscle wasting and weakness.
The disease, which is caused by genetic variations in a gene known as GNE, usually starts in early adulthood, although it has been known to start in patients as young as 17 and and as old as 52.
The muscle wasting and weakness progresses such that within 10 to 20 years the patient can be severely disabled.
While there are clusters of patients among those of Middle Eastern, Jewish, or Japanese origin, there are patients with the condition all over the world. According to the ARM website, HBIM has been diagnosed in people of Asian (eg Japanese, Korean, Chinese, and others) European, South American, African, and Middle Eastern (Muslim, Palestinian, Jewish, Iranian) origins.
HBIM has other names; it is known as Distal Myopathy with Rimmed Vacuoles (DMRV), Quadriceps Sparing Myopathy (QSM), or GNE related muscle disease.
The weakness and severity of the disease varies from person to person. Some people first notice weakness in the legs, others notice weakness in the hands.
HBIM used to be misdiagnosed as Multiple Sclerosis or Muscular Dystrophy, but while they have similar symptoms they are quite different in cause.
HBIM does not appear to affect the brain, sensation or the internal organs, and oddly enough the quadriceps (the large muscles at the fronts of the thighs) are relatively unaffected and stay strong until the disease is quite advanced; that's why HBIM is sometimes called QSM, or Quadriceps Sparing Myopathy.
Weakness is progressive, which means the muscle become weaker over time. HIBM does not seem to affect the brain, internal organs or sensation. The quadriceps are relatively spared, and remain strong until the late stages of disease, which is the reason HIBM is often referred to as (QSM). It is . Although there is currently no treatment, awareness or funding, let alone a cure for HBIM because it is so rare, Darvish said he is determined to find one.
He said in his interview that it was "something I can say with very strong conviction".
Already in ten years he and ARM have helped uncover the genetic basis of HIBM and made a simple diagnositc test.
However, he was nominated for the Jefferson Award not only because of his work with ARM, but because of his ability to inspire all his patients, whatever their ills.
His award nominator and colleague, Crystal Barker described Darvish as "one of the most giving people in life".
His patients are also full of praise. Manuel Perez recently had a hip replaced. He told KABC that not only does Darvish help you recover physically, he also helps you recover mentally.
"He's one of the best patient advocates for any patient on the floor. And he has a lot to give the world," said Barker.
Darvish said with hard work and taking the right steps, he thinks people can always succeed.
-- Doctor determined to cure rare disease (abc7 video).
-- Advancement of Research for Myopathies (ARM).
Sources: abc7 (KABC), ARM.
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