CATALINA FOOTHILLS, Ariz. (KGUN) — After 37 years and against all odds, one woman with lysosomal acid lipase deficiency (LAL-D) 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. Her little sister, Shaima Namazifard, lives with the same rare genetic disease but has yet to start the treatment.
"I never expected in my lifetime that a treatment would be available," Shaida said.
Shaida was diagnosed with LAL-D at 17 years old alongside her sister Shaima who was just four years old.
They're missing an enzyme in the liver, causing fat to build up in the body's organs and tissues, which could lead to liver disease and high cholesterol.
"All I knew and remember is that I was different," Shaima said. "I knew that I couldn't eat certain foods. I knew that I was very restricted."
In 1991, the two sisters were interviewed by KGUN 9 because of their rare condition:
At the time, they were prescribed Lovastatin, a treatment for high cholesterol and triglyceride levels. As years passed, no treatment for their condition was available.
"I've been on medication for 35 years," Shaima said. "So, you can imagine every statin I've been on, all the amount of doctors I've seen."
A pharmaceutical company, Alexion, created Kanuma for LAL-D. It was FDA-approved in 2015 and released in 2016, but the sisters didn't know.
"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. "Yes, she has to get it every two weeks."
On March 6, 2024, Shaida got her first Kanuma infusion, changing her life forever.
"I'm four months into the treatment and it looks like the body has reset itself," Shaida said in July.
Shaida invited me to one of her infusion appointments on July 10, to see the process. The appointments typically last two to three hours and she takes the day off work to recover.
Before getting an implanted port, she would get the infusion through her peripheral veins. Shaida says her veins were too small, making the infusion process longer and painful. After some time, she opted to get a port and says she has no issues with it.
After one successful month of treatment, Shaida's health improved.
"I repeated the lab and her liver enzyme for the first time in her life came back normal," said Dr. Ebrahimi.
Both Shaida and Dr. Ebrahimi's goal is to spread awareness about how good communication between a doctor and patient is crucial to finding proper treatment for an illness. Shaima is currently looking into getting the same treatment.
Shaida says she found a group on Facebook with only 113 people from all over the world sharing their LAL-D diagnosis. She encourages anyone with the condition to join it.
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Jacqueline Aguilar is a multimedia journalist at KGUN 9. Born and raised in Yuma, AZ., she is no stranger to the unforgiving Arizona heat. Now this U of A wildcat is excited to be back in Tucson and is looking forward to involving herself in the community. Share your story ideas with Jacqueline by emailing jacqueline.aguilar@kgun9.com or connecting on Facebook, Instagram or X.
