You might have seen it on the hit show Stranger Things. Actor Gaten Matarazzo has done an amazing job of raising awareness about a rare genetic condition he has that is similar to his character's: Cleidocranial Dysplasia (CCD). For the one in a million people who have CCD, the truth is that they will need a large team of medical and dental professionals for the rest of their lives. It can be hard to find your way on this path. Direct Primary Care (DPC) can be an essential "team captain" and "home base" in this situation, giving every family on this journey the steady coordination and personalized support they need.
Cleidocranial Dysplasia is a rare genetic condition that mostly affects the growth of teeth and bones. A change in the RUNX2 gene, which controls bone formation, is the most common cause. It can be passed down through families, but about 40% of cases happen on their own, with no family history.
The Classic Physical Traits:
Hypoplastic or Absent Clavicles: Collar bones that are not fully developed or are completely missing. This often lets people touch their shoulders in front of their chest.
Delayed Skull Closure: The soft spots (fontanelles) on a baby's head are usually big and take a long time to close.
Facial features that are typical and a shorter height.
Big health and dental problems:
Problems with teeth: This is one of the hardest things about CCD. The RUNX2 mutation messes up the normal way that baby teeth fall out and adult teeth come in. This frequently results in the presence of supernumerary teeth and teeth that remain impacted within the jaw, necessitating a complex, multi-phase, multi-year treatment plan involving orthodontists and oral surgeons.
Hearing loss, frequent sinus and ear infections, a greater likelihood of obstructive sleep apnea, and diminished bone density (osteopenia) are prevalent concerns.
A Significant Fact: Even with many physical problems, a person's intelligence and cognitive abilities are usually perfectly normal.
Direct Primary Care (DPC) is a membership-based model that lets families talk to their doctor whenever they want. Your DPC doctor is the most important person in your care for CCD because they are the central coordinator and lifelong advocate.
Here are some reasons why DPC is the best way to deal with CCD:
Leading a multidisciplinary team for life: A person with CCD needs a lot of professionals to help them. The leader of the village is your DPC doctor.
Smooth Coordination: They make it easy for your craniofacial surgeons, pediatric dentists, orthodontists, otolaryngologists (ENTs), orthopedic surgeons, audiologists, and geneticists to talk to each other clearly and all the time.
A Central "Home Base": They are the main place where all medical information is stored, so that every specialist has all the information they need to make decisions and your family can find their way through the very complicated healthcare system.
Proactive Monitoring and Managing Complications: The DPC model is made for the constant, close monitoring that CCD needs.
Regular, Systematic Checks: Appointments that aren't rushed give you time to check for hearing loss, keep an eye on bone density with regular DXA scans, and look for signs of sleep apnea.
Aggressive Management of Comorbidities: They can quickly and aggressively treat the frequent ear and sinus infections that children with CCD are especially prone to, which helps protect their hearing and health.
Full support and advocacy for families that is centered on the family: DPC is meant to help the whole family, not just the patient.
A Trusted Partner: Your DPC doctor is a reliable source of information, advice, and emotional support for parents and caregivers who are dealing with the huge stress of caring for someone with a rare disease.
Anticipatory Guidance: They can help you get ready for different stages of life, like your first dental surgery or when you become an adult.
A Strong Advocate: They can fight for your child's needs in the healthcare, dental, and educational systems to make sure they get all the help and resources they need.
Case 1: Leo, the Johnson family's baby boy, has been diagnosed with CCD. From the very beginning, their DPC doctor is their main guide. They make a shared digital timeline of all the tests that need to be done and set up his first appointments with genetics, audiology, and a specialized craniofacial team. This gives them much-needed clarity and support during a very stressful time.
Case 2: Maya, 14, has CCD and is currently undergoing a multi-year plan for orthodontic and oral surgery. Her DPC doctor sets up a video call with her parents, her orthodontist, and her oral surgeon to make sure everyone is on the same page about what to do next and when. The DPC doctor is also in charge of Maya's overall health as a teenager and getting her medical clearance before surgery.
Q: Is there a way to get rid of CCD? A: No. There is no cure for CCD because it is a genetic condition. All treatment is supportive and focuses on skillfully managing the person's dental, skeletal, and other health problems to improve their quality of life and function.
Q: Does my DPC doctor do complicated surgeries on the face and mouth? A: No. These are very specific procedures that teams of oral surgeons, orthodontists, and craniofacial plastic surgeons do. The most important thing your DPC doctor does is coordinate this expert team, keep an eye on your child's overall primary health, watch for complications, and be your family's lifelong advocate.
Q: Why are the dental problems in CCD so hard to understand? A: The RUNX2 gene that is affected in CCD controls the growth of both teeth and bones. The mutation messes up the normal, orderly process of losing baby teeth and getting adult teeth to replace them. This makes the mouth crowded with extra teeth and teeth that haven't come in yet, which needs a long-term, carefully planned surgical and orthodontic plan.
For families dealing with CCD for the rest of their lives, DPC has a clear edge because:
Being great at coordinating complex care over a long period of time: The DPC model is perfect for running the big, multidisciplinary team that needs to be in place for this condition from birth to adulthood.
Providing Proactive, Systematic Surveillance: Continuity of care makes it possible to keep a close eye on patients and catch and treat problems like hearing loss or low bone density early.
Providing Unmatched Family-Centered Support: The strong, long-term relationship gives families going through one of life's biggest challenges a base of trust, education, and advocacy.
People with Cleidocranial Dysplasia, a rare condition, need specialized care for the rest of their lives and a community of support. You need a dedicated team captain at the heart of that community. Direct Primary Care gives people with CCD the caring, organized, and ongoing support they need to get through this difficult journey and do well.
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