Decades after rare disease diagnosis, family and physician hail genomic breakthrough

For many years, Tonya and Cody Hanson’s parents didn’t know what caused their children to have weak facial muscles, cleft palates and curvature of the spine. Nor did they know what produced the phlegm that had to be suctioned from each child’s lungs every 15 minutes for the first three years of their lives. “You do what you have to do,” said Janice Hanson, Tonya and Cody’s mother. “Each child felt that they were loved by my husband and myself and that love helps the child hold on. Love has everything to do with it.” Doctors initially misdiagnosed the children with Moebius Syndrome, a disease characterized by facial paralysis. “My sister Tonya set such a good example,” Cody Hanson said. “She said, ‘We don’t know what we have, but we’re just going to deal with it and do the best we can.’ We were always figuring out life for the first time. Everything was new.” In 1980, the family began working with John Carey, M.D., and two years later he and his colleagues described and named the children’s very rare disease, Carey-Fineman-Ziter syndrome (CFZS). Thirty-five years later, researchers have identified the genomic mutations responsible for CFZS (see related news release). “Identifying the genomic mutations for CFZS makes me really excited because there’s the possibility of helping everyone else affected by CFZS and similar diseases in the future,” said Mr. Hanson. “We’ve come a long way in terms of the science. It’s great that they found the cause of CFZS while Dr. Carey is still alive and practicing.” “As a pediatrician, there’s an unparalleled sense of satisfaction that patient observations I made early in my career have led to discovery of these genomic mutations,” said Dr. Carey, professor and vice chair of the Department of Pediatrics at the University of Utah. “Seeing it all come together is exciting, humbling and incredibly exhilarating.” Now that these genomic mutations have been identified, they can be included on diagnostic gene panels so that newborns with significant respiratory or feeding problems can have their exomes sequenced to determine if they have CFZS. If they do, the prognosis is good, Dr. Carey said. Eventually, CRISPR-Cas9 might be used to edit the genomic mutations in early embryos with CFZS, he said. “I’m not sure I’ll see it in my lifetime, but it’s not “pie in the sky.” And you can do carrier testing to find out if both parents have the genomic mutations, and they can make reproductive choices based on that information.” From meeting the Hanson children to finding the genomic mutations has been a very long journey, Dr. Carey said. “Their resilience and spirit of never giving up has been stirring for me. They both have coped so well with so many challenges.” “Tonya and I made our own way through life with help from our parents and doctors,” Mr. Hanson said. “For me, living with CFZS is just life. I can’t imagine my life any other way.” Mr. Hanson said he’s grateful for his sister’s pioneering efforts. “She suffered so I didn’t have to,” he said. “I hope the next generation can learn from me, from what I contributed through working with researchers at the National Institutes of Health.” Sadly, Tonya Hanson developed restrictive lung disease and died of pneumonia when she was 37 years old. In addition to participating in research, Mr. Hanson also pays it forward with his website --  http://cfzsyndrome.org/ -- which  seeks to raise awareness of the syndrome and give parents, patients and the medical community a place to gain some answers. Likewise, Mrs. Hanson authored a book about the “love of a mother who rose above all odds to ensure that her children reached their full potential, no matter the odds” titled Because of Love: Now and Forever.