Dr. Neda Ebrahimi Helps Patients With Rare and Ultra-Rare Diseases Find Help and Hope
2/10/2025
Rare Disease Month – a worldwide initiative to raise awareness, advocate for research and treatments, and support people affected by rare diseases – is observed annually in February.
A rare disease (one affecting a very small number of people) can be debilitating and/or life-threatening, and many have no known cure. Some rare diseases – like cystic fibrosis, muscular dystrophy and sickle cell disease – are better known than “ultra-rare” diseases, including hemophilia and certain forms of anemia. These diseases are often genetic and can affect fewer than 1 in 50,000 people, according to the Undiagnosed Diseases Network Foundation.
Getting the correct diagnosis of any rare disease, and learning to manage its symptoms, can be isolating and difficult for patients – partly due to a shortage of physicians with sufficient knowledge and expertise to address their illness.
“Research into ultra-rare diseases tends to be limited, because of their rarity,” says Dr. Neda Ebrahimi, M.D., an endocrinologist with Northwest Endocrinology at La Cholla. “Only a small number of people are available to participate in a research study or clinical trial, and research funding is lower than the amount dedicated to more common diseases.”
Dr. Ebrahimi is one of the few local specialists to treat an ultra-rare liver disease known as lyosomal acid lipase deficiency, or LAL-D.
“Patients with LAL-D experience a decrease or loss of the LAL enzyme, which is integral to the process of breaking down lipids – or fats – and LDL, or what we call ‘bad’ cholesterol,” says Dr. Ebrahimi. “When these fats and cholesterols aren’t processed correctly, they can accumulate in cells and organs – including the liver, which may lead to the advanced scarring known as cirrhosis – and then liver failure. Additionally, LAL-D can cause problems in the blood vessel walls, leading to stroke – and in the spleen and gastrointestinal system.”
Dr. Ebrahimi lent her experience to a KGUN 9 story last summer. The story featured two sisters with LAL-D who found hope after almost 40 years of struggling – thanks to Dr. Ebrahimi, who prescribed a new, twice-monthly infusion medication.
Patients with a rare disease, Dr. Ebrahimi says, should not give up hope when it comes to effective treatment and the possibility of living their best lives.
“Always stay in communication with your physicians and other providers,” she advises. “No matter how rare your disease may be, you are not the only person living with it – so do all you can to learn more, find support, and seek the best treatment available.”
To learn more about endocrinology, or to request an appointment, visit https://www.nwalliedphysicians.com/our-locations/northwest-endocrinology-at-la-cholla-3326.
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