With his 9-year-old son’s teeth turning brown and decaying at an alarming rate, Sayed Hashimi searched the Central Valley in what increasingly seemed a futile quest for answers.
“We’d contacted about 15 different dental clinics over several years but none were able to help us,” recalls Sayed. All the while, the worsening condition of his son’s teeth caused a once-happy child to become depressed, as classmates made fun of his appearance.
Finally, a pediatric specialist told Sayed about UCSF and suggested they make an appointment. “It was a call that turned out to change my life and my kids’ lives,” states Sayed.
Sayed’s son, Ismaiel, was ultimately diagnosed with an inherited enamel defect known as amelogenesis imperfecta, a disorder that causes enamel to be thin, soft, discolored or grooved, and prone to rapid wear and breakage. While the exact incidence of amelogenesis imperfecta is uncertain, some studies suggest it affects one in 14,000 people.
“It was such a relief to know that there was a diagnosis for Ismaiel’s condition,” explains Sayed. “We’d been in the dark for so long.”
Given the inherited nature of the condition, the Hashimi family was alerted to the possibility that their twin daughters, six years younger than Ismaiel, might develop the same disorder. At the age of two, both were diagnosed with the genetic mutation and began receiving care at UCSF Dental Center. The Hashimis have two older children who did not inherit amelogenesis imperfecta.
“The early diagnosis and timely treatment of the two young sisters prevented the dental complications that Ismaiel went through, including tooth decay, tooth pain and sensitivity, and the psychological issues facing these school-aged children,” says Ling Zhan, DDS, PhD, who, along with Thuan Le, DDS, PhD, of UCSF School of Dentistry’s Division of Pediatric Dentistry, provided care for Ismaiel.
The children have undergone several surgeries to provide comprehensive dental restorations and also received crowns for back teeth and esthetic white composite crowns for front teeth. They’ve also come back to the clinic for regular visits over the last six years.
The Hashimi family has been gracious in providing assistance to UCSF to advance oral health research. Both parents and their five children provided saliva samples and genomic DNA so that researchers could perform a mutational analysis and determine the cause of the problem.
The research ramifications are significant. Dr. Le and a team led by Pam Den Besten, DDS, MS, Chair of Pediatric Dentistry at the UCSF School of Dentistry, identified the mutated gene underlying the dental enamel defect, analyzed how the gene forms enamel and published a study in Matrix Biology Journal.
“We have gained much new knowledge and understanding of amelogenesis imperfecta from the participation of the Hashimi family while providing long-term dental care for their children,” says Dr. Le.
UCSF Pediatric Dentistry is now open at its new Mission Bay location. Call 415-476-3276 for an appointment.
Pictured
Top: The Hashimis with their twin girls in the UCSF Dental Center Pediatric Dentistry Clinic; below: receiving care from Dr. Thuan Le
Link