In 2017, Criss Quigley and Ann Quigley, a mother and daughter duo who both have the rare dental disease dentinogenesis imperfecta, talked to GSDM students about their experiences with the disease as part of the school’s first ever Rare Dental Disease Seminar. In April, six years after their first appearance at GSDM, Criss and Ann returned in April to enlighten the next generation of dental students and promote legislative change.
The seminar series was created by Clinical Associate Professor Dr. Yoshiyuki Mochida in order to humanize uncommon oral-related diseases, giving dental students a one-of-a-kind exposure to real patients. Mochida said he initially started the series because he wants to ensure the GSDM students are equipped to work with any dental patient.
“There are some medically underrepresented people who are Massachusetts residents, and they are suffering from these diseases,” Mochida said. “In one dentist’s lifetime, they may or may not be able to see them. But once we encounter, we should not say, ‘we don’t know,’ because we have learned it in the textbook, but it’s just one small topic. Just a couple of sentences or one paragraph in a textbook is not going to make young dentists memorize it. Rather, if they meet a real patient and listen to them, that will stick more in their mind.”
Dentinogenesis imperfecta (DI) is a genetic disorder that affects tooth development. DI causes the teeth to be discolored (most often a blue-gray or yellow-brown color), translucent, and weaker than average teeth, making them prone to rapid wear and loss. Approximately one in 8,000 people are affected with DI with varying degrees of acuteness.
Criss and Ann shared their firsthand experiences with DI. In addition to physical and cosmetic damage to their teeth, DI can cause nutritional and psychological issues. Criss opened up about her worries about having a biological child and potentially passing along DI to her child. She was devastated when Ann started to have dental issues and was ultimately diagnosed with the same genetic disorder.
“I’m thrilled that I have her, but I have to say that I have often felt guilt and shame for passing on DI,” Criss said. “Because seeing what she went through as a child, which was a lot more difficult than what I went through, and also just because of feeling guilty about the financial burden that could be on her and her future care.”
The pair discussed Ann’s traumatic dental experiences as a child, including suffering frequent abscesses, needing to be immobilized with a papoose board, and choking on a crown.
“It can also be tough finding practitioners who are qualified and willing to take on your case,” Ann said. “Since your conditions are so rare, it’s hard to find reliable information to try to figure out decisions about all these really expensive treatment plan options that you’re being offered.”
While there is a variety of treatment options, there is not a treatment plan that works for every case of DI. Different treatments include orthodonture, gum surgery, bone grafting, extractions, implants, crowns, and bridges. Patients with DI need to be mentally prepared for their original treatments to not be permanent due to continual crown breakage and infection/loss from weak roots/periodontal disease. There is potential for one or more additional full mouth reconstructions.
Today, the Quigleys are still trying to find the best way to care for their DI. Throughout her 20s, Ann had a “constant stream” of things breaking or growing wrong in her month – all leading to more work. She ended up with half of her previous restorative work damaged or missing. She was told she needed a new full-mouth reconstruction but was delaying treatment because the estimate was between $50,000 and $100,000 without insurance coverage. In Massachusetts, cleft lip and palate is the only craniofacial disorder with mandated coverage. Those with DI are being told by insurance companies that their treatments are cosmetic, not medically necessary, and thus are not covered. Medical insurance denies coverage and dental insurance will only pay a fraction of the cost, if anything.
Ultimately, Ann could not wait any longer and decided to start the lengthy and expensive process even though she was still unsure how she would pay for it. The first step is “temporaries” after having her old crown and bridge work taken out. An abscess tooth has now been extracted, so the next steps are more oral surgery and extraction before starting implants. Eventually, she will have a new crown and bridge work.
“We just kept kind of waiting and waiting and hoping, but eventually I was told that it would negatively affect my outcome if I kept waiting,” Ann said. “And I was just struggling so much with everything going wrong and struggling to eat, that we decided that we need to go ahead and start and just have to try to figure out the money piece.”
Together, Mochida and the Quigleys are working on trying to change Massachusetts law so that DI and other rare genetic disorders will be properly covered by insurance. “An Act Relative to Ensuring Treatment for Genetic Craniofacial Conditions” is legislation that will require insurance plans to cover treatment of congenital craniofacial disorders that affect basic abilities such as chewing food and speaking. Mochida, GSDM Dean Cataldo Leone, and GSDM Chair of Pediatric Dentistry Dr. Keri Discepolo have written letters of support for the bill, as have many other Massachusetts dental professionals.
“It’s not like they are lazy and are not brushing well or they are not flossing, it’s not like that,” Mochida said. “It’s by blood and gene mutation. Medical insurance usually covers the expense if it is genetic diseases, but these diseases are so rare to affect only craniofacial tissues, only teeth. So medical insurers deny it because they thought that it is cosmetic or some other treatment, it’s not medically necessary.”
Criss and Ann do not have an easy time speaking freely about their experiences with dentinogenesis imperfecta, but they both emphasized how valuable it is to give dental students candid, heartfelt stories, not only to help improve treatment but also to expand the number of advocates for legislation such as the bill on which they are working.
“We appreciate being invited to tell our story to help future dentists who may not have a lot of rare-disease patients, have an idea of what the experiences are and maybe even what they might expect when they’re working with somebody,” Criss said.
Ann hopes their stories will fuel GSDM students’ desire to be passionate about rare disease care.
“You can feel emotional sometimes when all of a sudden you’re talking about some traumatic or stressful thing that happened and it can bring up some emotions,” Ann said. “But I almost think that that’s okay and it’s kind of part of what can be helpful because if we can manage to get ourselves to do it, because I think that can also help the students to get a sense of what it’s really like.”
Mochida urges dental students to try and understand what it is like for a patient with a rare disease and how to better approach them to better treatment. He hopes the rare patient seminars are one step of their education process.
“At the end of the day, you become a dentist and do things and then you really have to know why you’re doing these things or that thing for patient and whoever comes to your clinic, you should be competent,” Mochida said.