"I know my end won't be like my mother's, I can survive"

The Schulman Foundation's mother died after struggling with family amyloidosis. After her death, Keren discovered that she, too, is the carrier of the gene that causes this serious hereditary disease, but is determined to write her story a different ending. This is her story

"I know my end won't be like my mother's, I can survive"

"My mother's coping with this disease was very, very difficult. I saw her become a very independent and strong nursing woman. She slowly lost her ability to walk, suffered from terrible pain that just hurt me to hear how painful she was, until slowly, the condition was worse. "The liver collapsed, the kidneys collapsed and slowly she passed away," Karen Schulman, a midwife nurse and professional makeup artist from Haifa, describes her mother's coping with family-related amyloidosis - a dangerous hereditary disease that can cause severe disability and death.

After her mother's death, Keren found out she was also the carrier of the disease. This did not surprise her, as family amyloidosis is a hereditary disease caused by a defective gene that a parent may pass on to his children. It is enough that one parent, mother or father, is the carrier of the defective gene, so that about 50 percent of its children may also be the carriers of the defective gene. About 70 percent of carriers of the defective gene can develop the disease. In Israel, family amyloidosis is common among Yemeni immigrants.

"I decided to get tested because there are drugs today. I remember the day they called me and told me 'Your answer is positive,'" Keren says, "but I know my end will not be like my mother's. I can survive and live a good life."

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Early detection in the case of familial amyloidosis can indeed save lives as it allows life-saving drugs to be given that are not given at more advanced stages of the disease. Importantly, new family amyloidosis drugs are expected to be included in the drug basket by 2020. These drugs may delay the onset of disease, slow its progression, improve the quality of life of carriers, and even prevent the death of patients with the disease.

Israel's Amyloidosis Association encourages family members of carriers and patients to get tested and begin receiving treatment that will prevent disability, suffering and mortality from the disease. Gene-carrying tests are life-saving as they allow for early diagnosis and detection of the disease. Anyone diagnosed as a carrier will automatically be included in a diagnostic program that includes proactive, periodic examinations that will allow for early detection of the disease before symptoms develop. Diagnosis and early detection are also key to eradicating the disease: Artificial fertilization will allow the selection of non-prenatal embryos and the birth of healthy children who will not live in the shadow of the disease and transmit it to their children, God forbid.

To contact the association:
Website: www.amyloidosis.org.il
Email: amyloidosis.israel@gmail.com