On Monday, January 30, 2017, the beginning of a new Patient Seminar Series kicked off with a presentation from a mother and daughter about their struggles with Dentinogenesis Imperfecta (DI) Type II, a rare disease found in about .013% of the population. It is caused by a genetic mutation, and carriers have a 50% chance of passing it along to their descendants. Dr. Yoshiyuki Mochida, a faculty member in the GSDM Department of Molecular and Cell Biology, played a key role in getting them on campus, and has been an advocate for further study and understanding of the disease. Dr. Cataldo Leone was also instrumental in making this series happen.
Criss and Ann Quigley have both struggled with DI their entire lives. With this disease, teeth are blue-gray or yellow-brown due to the defective dentin shining through the translucent enamel. Due to the lack of support, the enamel fractures from the teeth, leading to rapid wear. If left untreated, it is common to see the teeth worn to the gingival level.
Criss had a milder case than Ann, but was treated back in the 1960s and 1970s when little was known about the disease. Her treatment plan was less traumatic and irreversible than her mother’s, who also suffered from DI, but who had all of her teeth extracted and as a result wore dentures from a young age. Criss’s affected teeth were restored with implants and crowns, and has required continual maintenance throughout her life.
Ann’s case, unfortunately, was much more severe. Her treatment included; braces, gum surgery, tissue transplants, bone grafting, extractions, implants, and fixed prostheses, and has already required a full crown and bridge replacement. Because the treatments were so traumatic from a young age, Ann required psychological therapy to work past these issues. She will require lifelong maintenance, but nearly none of these procedures are covered by insurance.
Since 2007, the Quigley’s have been lobbying the Massachusetts State House to pass a bill recognizing craniofacial disorders and their need to be covered by medical or dental insurance. It has never passed, but they refiled for the sixth time this year and it was recently sponsored in the senate. Dr. Mochida has traveled to the State House to provide accurate statistics to the legislators and senators and to testify on the bill’s behalf.
“I would like to thank Criss and Ann Quigley for taking the time to share their story with our students, residents, faculty, and staff,” said Dean Hutter. “It is presentations like these that truly solidify why our students/residents, faculty and staff are passionate about the profession of dentistry and the care we are able to provide to our patients.”
The new Patient Seminar Series is designed to provide a curriculum enhancement for our dental education program by “putting a face” on those oral-related diseases dentists may encounter only rarely, but which have marked consequences for those affected. The intent is to have periodic seminars over a 1-2 year cycle during which patients, family members and legislative advocates will expand the understanding of their experiences with such conditions. State Representative John Scibak will be presenting on March 7th as part of this series, and more information on that will be provided later.
If anyone at GSDM is interested in knowing more about rare disease conditions, more about this seminar, helping with rare disease patients, please feel free to contact Dr. Mochida (Mochida@bu.edu).