Hope and healing for two sisters with rare genetic disease

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Hope and healing for two sisters with rare genetic disease
CESDKanumaLAL-D
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Jacqueline Aguilar joined KGUN 9 as a multimedia journalist in February of 2024.

After 37 years and against all odds, one woman with lysosomal acid lipase deficiency found hope and healing through a medication called Kanuma .The Namazifard family moved to Tucson in 1987 from Kuwait seeking treatment for two sisters with a rare genetic disease involving the liver.After decades of endless doctor appointments and no real improvements in health, a local endocrinologist, Neda Ebrahimi, MD, helped one sister, Shaida Namazifard, get the right medication.

'I have been mentioning this to every specialist, every doctor, every primary I have seen for the last 37 years,' Shaida said.It wasn't until late 2023 that Shaida met with Dr. Ebrahimi for diabetes treatment. Dr. Ebrahimi was studying for her board exams around the same time she met Shaida and learned about Kanuma, promptly telling her about it.'The medication is basically giving you the enzyme and is a lifetime treatment,' Dr. Ebrahimi said.

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CESD Kanuma LAL-D Lysosomal Acid Lypase Deficiency

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