From Pain to Purpose: Living and Receiving Treatment for Amelogenesis Imperfecta

Lived Experiences of a Genetic Condition: Amelogenesis Imperfecta

By Sushmita Paudel, 23-year-old patient advocate

Amelogenesis imperfecta (AI) is a rare genetic condition that affects the enamel of the teeth, leaving individuals like me with not just yellow teeth but also a lifetime of unique challenges and stories. It is characterized by extremely thin, fragile enamel that is often discolored in varying shades of brown (Gadhia et al., 2012). For me, the most visible sign has always been my yellow teeth, sensitivity and a high susceptibility to dental decay —a source of significant emotional and physical distress. Living with AI has shaped my identity and driven me to become an advocate for those with rare genetic conditions. This article reflects on my journey, from childhood struggles to finding my voice as a patient advocate.

Growing Up with AI

As a child, people around me were considerate, but I was often afraid when someone asked about my condition. I didn’t want to explain it to every single person in the room. In school, we had morning and evening assemblies, and on Sundays, the class teacher would check for personal hygiene, including nails, parted hair, teeth, and dress. The teacher conducting this check changed every year.

One day, during a routine hygiene check, my class teacher examined my teeth. He accused me of not brushing my teeth and chewing tobacco. Despite my attempts to explain that my condition was genetic, he dismissed my explanation and demanded to know the name of the toothpaste I used. Flustered, I struggled to recall the names of the toothpaste brands I used intermittently, like Sensodyne or a red one whose name I couldn’t remember. He accused me of making excuses to hide a supposed tobacco-chewing habit. He was a science teacher who taught physics, and his reaction deeply hurt me.

That day, I returned home in tears and shared the incident with my father. He comforted me, explaining that others didn’t understand my condition. He assured me that we would seek treatment and that I shouldn’t let others’ comments affect my confidence. It was during this conversation that I learned my father also had AI. His empathy and assurance that he had a plan for my treatment provided a much-needed sense of relief. Knowing that he had experienced similar challenges gave me the strength to face the future.

Treatment Journey
Diagnosed with Amelogenesis Imperfecta at age 13, I experienced enamel hypoplasia and significant discoloration. By age 16, CBCT imaging revealed impacted upper and lower canines with misalignment and a slight protrusion of the maxillary incisors. Initial treatments included veneers for discoloration and scaling for periodontal health, but weak enamel caused frequent veneer failures.

At 17, I underwent my first root canal treatment (RCT) for pulp exposure. Treatment plans at the initial hospital included orthodontics, RCTs, extractions, and crowns, but delays prompted me to seek care elsewhere. Switching hospitals brought a fresh approach, including surgeries for impacted teeth, additional RCTs, and dental crowns for protection and improved functionality.

At 22, a CBCT scan revealed a growing cystic lesion near the lower right impacted canine. Multiple manual RCTs, undertaken to prevent future inflammation, were painful and often led to prolonged swelling and discomfort.

Facing Surgery and Haematophobia
Surgery became necessary to address the cystic lesion, but my haematophobia added complexity. During my first dental surgery, I avoided discussing my fear with the surgical team and endured the procedure silently, which intensified my anxiety. Despite the challenges, completing the surgery felt like a personal triumph.

For a subsequent surgery, I informed the new team about my phobia, but their minimal reassurance highlighted the need for better emotional preparation. The journey has taught me the importance of advocating for my needs in challenging medical situations.

Challenges Beyond the Diagnosis

The impact of AI extends beyond the physical symptoms. Social stigma and the psychological toll can be profound. However, connecting with others living with AI provided solace. These communities became a source of strength, showing me that I was not alone in my struggles.

Access to affordable and effective dental care remains a significant hurdle. Treatments like crowns, veneers, and enamel bonding are often necessary to manage AI, but they come with hefty price tags. As someone living in Nepal, navigating these financial challenges has been a constant battle. This experience has fueled my determination to advocate for accessible healthcare solutions for rare conditions.

Turning Pain into Purpose

In my early twenties, I realized that my lived experiences could make a difference. I thought to begin sharing my story through blogs and local health forums, shedding light on the realities of living with a rare genetic condition. I hope the response would be positive.

One of my happiest moments was finding that the journal has ‘patient authored’ section where I can contribute to the scientific community through my personal experience. This kind of inclusion in research community, motivated me to collaborate with dentists and genetic counselors to write a case study on my AI to improve diagnostic and treatment pathways. I am on my halfway of the treatment.

Also, I hope to present my case study on AI at a local medical seminar. I feel that my voice matters—that my story would inspire change and foster awareness among healthcare professionals and the general public.  Today, I am committed to advocating for the inclusion of patient voices in healthcare decision-making. Rare disease awareness is often overshadowed by more common conditions, but every story has the power to create ripples of change

Call to Action

Healthcare professionals, researchers, and policymakers must recognize the importance of integrating patient perspectives into their work. By amplifying the voices of those living with rare conditions, we can ensure that research and healthcare practices align with the real needs of patients.

My journey with amelogenesis imperfecta is far from over, but I am proud of the person it has shaped me into. As I continue to navigate life with AI, I remain hopeful that increased awareness and collaboration will lead to a future where rare diseases like AI are met with understanding, empathy, and effective solutions