Work participation in adults with rare genetic diseases - a scoping ...

Blood Disorders

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Rare Blood

Cancer Treatments, Orphan Drugs, Gene Therapies Represent Big Areas to Watch in Specialty Drug Pipeline

Skylar Jeremias October 20th 2021

During her presentation at the Academy of Managed Care Pharmacy Nexus 2021 meeting, Aimee Tharaldson, PhD, highlighted the most anticipated specialty pharmacy drugs awaiting FDA approval, including several treatments for cancer and rare diseases.

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Doctors Rescue Dengue Patient With Rare Blood Disorder

PUNE: Dengue can lead to unforeseen complications if not diagnosed and treated in time.A 34-year-old motivational speaker and trainer Anne Anish suffered multiple complications after being gripped by dengue. However, she returned to recovery following constant monitoring by a team of intensivists, doctors and support staff at a city hospital recently.An underlying medical condition — immune thrombocytopenia (ITP), which she had been living with since childhood, led to rapid deterioration in her health. The blood disorder can lead to excessive bleeding resulting from unusually low levels of platelets — the cells that help blood clot. Congratulations!

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Login to view result Due to the condition, the patient had acute respiratory distress syndrome (ARDS) from bleeding in the lungs which led to a drastic drop in her oxygen levels. She continued to sink even while on the ventilator and multiple infections resulted in very high grade fever.

During the treatment, she also suffered a cardiac arrest putting the medical team on its toes. However, timely use of high-end technology and an innovative therapy gave her a chance to recuperate.

Anne was in Dubai last October when she noticed blood clots on her leg. That was just the beginning of a series of complications that were going to be life-threatening. Despite health risks, she decided to return to India where treatment costs would be affordable. On her return, she was admitted at Ruby Hall Clinic's intensive care unit (ICU).

Chief intensivist Prachee Sathe said, "When Anne was admitted in the ICU on November 6, we had an extremely difficult problem at hand. Her platelet count couldn't rise and she was constantly suffering from life threatening bleeds."

However, the biggest concern was her deteriorating immunity as a result of medicines to improve her platelets. Multiple platelet transfusions later, the treating doctors did not see an improvement in her overall health. In fact, the bleeding only worsened.

"In addition to the bleeding, she suffered from acute respiratory distress syndrome due to bleeding in the lungs, which led to a drastic drop in her oxygen levels. It became almost impossible to exchange the oxygen and carbon dioxide in her lungs despite the ventilator," Sathe said.

Eventually, multiple infections resulted in very high grade fever and then she suffered a cardiac arrest. "The timely use of Extra Corporeal Membrane Oxygenation (ECMO) and extra corporeal filters that remove impaired immune molecules (cytokines) from the bloodstream, which can potentially damage vital organs and cause sepsis or multi-organ failure, helped Anne recover after a prolonged treatment," said Sathe. After undergoing treatment for two months, Anne was discharge on January 10. Mumbai-based intensivist and ECMO specialist Pranay Oza said, "ECMO artificially oxygenates the blood outside the body before returning it to the body. Essentially, the machine acts as an artificial lung. Improvements in technology and enhanced understanding of administering the treatment have made ECMO effective, with recent research showing an improvement in survival rates by 30% to 50% in patients with ARDS, as was Anne's case." Oza along with cardiac surgeon Ashish Khanijo were also involved in Anne's treatment. Her husband, Anish Varghese said, "There was a point when Anne's platelet count had unbelievably gone as low as 3,000-4,000. While ECMO is a risky procedure, I could no longer see my wife suffer and agreed to put her on the machine. Now, I can't be happier to see her slowly get on the path to recovery."

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