Ronit Mazzoni first learned about genetic counseling from her AP biology textbook. After shadowing a genetic counselor her senior year of high school, she was sold on it as a career.
"I always was interested in science, and this felt like a great synthesis of the different parts of it that I really liked," Mazzoni said.
Many people mistakenly assume that because Mazzoni has been blind since birth due to a condition known as microphthalmia, her career choice must have been related to her diagnosis.
"Not at all," Mazzoni said. "It had nothing to do with my blindness."
She says her passion for genetic counseling comes from a desire to help and educate others. For the past two years, Mazzoni, 41, has worked in the Fertility and Reproductive Health department at Lucile Packard Children's Hospital Stanford where she teaches individuals about their risk of genetic disorders. This is a crucial step in the long and often arduous fertility treatment process.
"There are so many places where genetic counselors can be helpful," Mazzoni said. "It's all about educating people about their genetic testing options or test results to help them make informed decisions."
As someone among the 46% of blind or visually impaired Americans who are employed, Mazzoni is also trying to be an example of how, against great odds, one can have a career in health care. But it isn't easy in a world where ableism -- discrimination and social prejudice against people with physical or mental disabilities -- remains prevalent.
"The most frustrating part is the difficulty in finding people who are willing to give me a chance," she said.
Helping create families
After graduating from high school in the Bay Area, Mazzoni attended Scripps College in Claremont, California, where she majored in biology and psychology. She then received her master's degree in genetic counseling from Northwestern University's medical campus in Chicago, Illinois.
Through her studies, Mazzoni absorbed all she could on the relatively young field of genetic counseling, which was officially defined as a clinical service in 1947 but did not have a master's level training program until 1969. The profession includes everything from prenatal counseling, which focuses on analyzing the genetic risks of embryos or fetuses, to postnatal counseling for anyone from newborns to adults who may have a genetic predisposition to conditions such as heart disease or cancer.
For her job at Lucile Packard Children's Hospital Stanford, Mazzoni talks to people who are seeking fertility treatments such as in vitro fertilization, or IVF. During this process, an egg is fertilized outside of the body. The fertilized egg is then allowed to develop for a few days in the lab before the developing embryo is transferred is into the uterus.
Along with educating patients about their genetic risks, another crucial step in the fertility treatment process that Mazzoni walks patients through is making sure the embryo has the correct number of chromosomes -- a process called preimplantation genetic testing. This reduces the chances of a failed implantation or a miscarriage. For people over the age of 35 who are trying to get pregnant, those who have a history of miscarriages due to chromosomal abnormalities, or couples who are at risk of having a child with an inherited genetic disease, this testing is particularly vital.
"IVF is not a miracle procedure. We often don't get the results that we want," said Mazzoni, who is also trained to help her patients process potentially emotional news. "It's about setting expectations ahead of time with the patient."
Spreading Disability Awareness
Although Mazzoni has been a genetic counselor for the past 16 years, people still ask her how she does this work as a blind person. She often interprets these queries as a questioning of her abilities -- one of the most frustrating aspects of being blind in a work setting, Mazzoni said.
Parts of the job, like reading medical records, can be tricky. But Mazzoni uses a combination of scanning the documents into a computer, using screen readers -- and human readers, if necessary -- to get the information she needs from patient charts.
"Having to convince others that I'm capable of doing the job is far more exhausting," she said.
In the United States, only around 46% of people who are blind or visually impaired were employed as of 2019, with almost a quarter of these individuals working part-time, according to data from the American Community Survey. That same year, the employment rate for people without a disability was just over 66%. Individuals with visual disabilities were far slower to recover employment following the COVID-19 lockdown than the rest of the population.
Discrimination, bias, accessibility problems and lack of accommodations by employers are some of the reasons these unemployment rates are so high, said Peter Poullos, MD, co-chair of the Stanford Medicine Alliance for Disability Inclusion and Equity, a group of people with disabilities and their allies who aim to transform the culture of Stanford Medicine to one of anti-ableismwhere patients, employees and trainees with all abilities can thrive.
Combating ableism in the workplace includes training and education on disability awareness and bias, clear work accommodations, and fostering an inclusive work environment that values diversity at every level, Poullos said.
Mazzoni is also pushing for disability awareness through open conversations with her patients about the fact that she is blind. "I say something like 'As you can tell, I am blind, so please let me know if you have any questions or if there is something that you need that I am not aware of,'" she said. "I don't want to ignore the fact that I'm walking into a room with a white cane."
Mazzoni also gives talks at Stanford Medicine's Master's Program in Human Genetics and Genetic Counseling about ableism and supervises master's students during their clinical rotations.
"I try to give concrete tips for people about what they can do if they come into contact with someone with a disability," she said. "I don't want them to assume that person can or cannot do something. You have to be willing to ask, 'Is this something you need help with?' If they say no, then great. If they do need help, listen to what they need. Don't assume."
More lessons on disabilities in medical education are paramount to increasing equity for patients and providers alike in health care settings, Mazzoni said.
"Inclusion is something that we all have to help make happen," she said. "It doesn't just come from the disabled person -- it's a collaborative process."
Photo: Vitalii Vodolazskyi / Courtesy Ronit Mazzoni