“My mom knew since my birth that something wrong was going on, but didn’t know what exactly,” says Daizha Hill, now 16 years old. “She kept a book where she would write down every symptom I was having when I didn’t feel good. Then she would try to look them up online to see what she could find out.”
Daizha and her mother, Juanita Brooks-Hill, went to several doctors in the Metro Detroit area looking for answers to her symptoms. Meanwhile, Juanita kept searching online for experts that helped patients with symptoms that matched what Daizha was experiencing.
That’s when she stumbled across Dr. Elif Oral, an endocrinologist, on the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) website. After further searching, she found that Dr. Oral had recently moved to the University of Michigan in Ann Arbor, which meant she was not too far away from them.
After a few appointments with Dr. Oral, Daizha was officially diagnosed with lipodystrophy.
Lipodystrophy is a group of rare diseases that all share in common the selective loss of fat tissue from the body. Patients affected by the disorder generally have severe insulin resistance, high lipids in their blood and fatty liver. The disorder highlights how important fat cells are to regulating the metabolism.
“I was always sore, it felt like my bones were breaking all the time, and I couldn’t walk for a while and had to be in a wheelchair,” Daizha says. “I also couldn’t stop eating and had to eat every hour of the 24 hours in a day.”
Daizha has a type of lipodystrophy that causes her to lose fat from her entire body. She also experiences joint and skin abnormalities, as well as muscle disease.
“My colleagues, Jeff Innis and Marwan Tayeh in pediatric genetics, and I read her entire genetic code and then looked at the code of the genes that have been associated with lipodystrophy in previous studies, as Daizha is the only one affected in her family,” Oral says. “We found that she has an extremely rare mutation that has only been seen in 12 patients around the world.”
After looking at the genetic code, Dr. Oral believed that Daizha’s muscle, skin and joint changes were all due to a lamin A gene mutation. She used this new finding in hopes of guiding the management of Daizha’s condition.
Dr. Oral had already worked on a new treatment over the past decade that she believed could help Daizha.
In the 1990s, Dr. Oral (together with her mentors Drs. Taylor and Gorden at NIDDK) had thought about exploring the role of leptin (a fat cell hormone) in treating patients with lipodystrophy disorders, as many of these patients lack the hormone. She decided to explore if replacing leptin (similar to the way type 1 diabetes patients are treated with insulin) would help patients. She launched several studies and found replacing leptin was working and helping patients to better manage their conditions. She continued to research the effects of leptin and now it is an approved treatment for lipodystrophy and available for patients with the most severe forms of the disease.
“The entire journey from first dose to approval took about 14 years,” Oral says. “The methods that are accepted to make a drug approved for a disease are even harder to follow for a rare disease.”
Dr. Oral decided leptin might help Daizha as well.
“I wasn’t on any medication at first,” Daizha says. “A couple years later I was diagnosed with diabetes and I had to start checking my numbers, and then a few months after that I had to start taking insulin shots.”
“We still hope to find new and improved ways of treating her entire condition.”
Daizha admits people don’t always understand what she deals with on a daily basis.
“When I was first diagnosed we explained it to my family and it was hard,” she says. “People don’t always understand what everything means so sometimes my mom and I just keep it between us.”
Dr. Oral continues to conduct research around lipodystrophy and just recently announced another drug in development intended to treat patients with the conditions.
In the meantime of finding even new treatments, Daizha works hard to manage her condition each day.
“I have to stick to my diet and make sure I’m taking my medicine and my shots,” she says. “I also try to stay healthy by walking around and going to therapy.”
Daizha also discusses her condition in hopes of helping other patients. She has taken part in several programs, including a recent one on PBS.
“I’d rather have people ask what’s going on instead of just assuming,” she says. “I didn’t have many friends growing up and people wouldn’t get to know me first because they just assumed ‘oh, she’s sick’.”
Take the next steps:
- Learn more about Lipodystrophy United, a foundation formed by patients with lipodystrophy. U-M has more than 60 patients with this disease actively managed by Dr. Oral.
- Watch the recent PBS special on Daizha, Juanita and Dr. Oral.
For more than 160 years, the University of Michigan Health System has been a national leader in advanced patient care, innovative research to improve human health and comprehensive education of physicians and medical scientists. The three U-M hospitals have been recognized numerous times for excellence in patient care, including a #1 ranking in Michigan and national rankings in many specialty areas by U.S. News & World Report.