Last month, the National Organization for Rare Disorders (NORD) hosted a webinar featuring IPPF Medical Advisory Council Member, Dr. Yoshiyuki Mochida, and IPPF Outreach Director, Becky Strong. The webinar, “Oral Health and Rare Disorders,” focused on dental conditions associated with rare disorders and the challenges that people face socially and financially. The discussion included approaches for obtaining insurance coverage for necessary dental procedures and perspectives from two patients and a dentist. Access the recording on YouTube here.
This article first appeared on the Undiagnosed Diseases Network (UDN). The UDN is a research study that is funded by the National Institutes of Health Common Fund . Its purpose is to bring together clinical and research experts from across the United States to solve the most challenging medical mysteries using advanced technologies. The Coordinating Center of the UDN is based at the Department of Biomedical Informatics at Harvard Medical School. For more information on the Undiagnosed Disease Network, visit https://undiagnosed.hms.harvard.edu.
Pemphigus and pemphigoid (P/P) are rare, autoimmune blistering diseases that affect the skin and mucous membranes, causing lesions that do not heal. Like many suffering from a rare disorder, the diagnostic journey for a P/P patient is complicated and stressful. On average, this journey involves five different doctors over a period of ten months before a patient receives a correct diagnosis. (Source: pemphig.us/diagnostic-data ) Once a correct diagnosis is received, P/P patients begin the long process of managing disease activity. There is no cure for P/P. Many patients are able to achieve a state of remission; however, insurance regulations make it difficult for some patients to receive the most effective treatments.
Sharon Williamson’s journey to a pemphigoid diagnosis started in July of 2014 when her mouth began to bleed whenever she brushed her teeth. Like many undiagnosed P/P patients, Sharon first shared her symptoms with her dentist. This dentist did not recognize Sharon’s symptoms and told her to floss more frequently.
The next doctor Sharon saw was an ear, nose, and throat (ENT) specialist. The ENT doctor thought her bleeding was a reaction to Plaquenil, which Sharon was taking to combat her rheumatoid arthritis. The ENT doctor put her on a mouthwash containing lidocaine. This numbed her mouth, but did not help the bleeding.
Sharon then saw her rheumatologist. She had been wondering if her bleeding gums and cheeks could be symptoms of Sjogren’s disease, which often affects arthritis patients. The test for Sjogren’s came back negative.
By December of 2014, Sharon was spitting bloody tissue whenever she brushed her teeth. “It hurt so bad that all I could do was hang over the sink and cry … spitting out blood the entire time,” she said. “No toothpaste was mild enough. No toothbrush was soft enough.”
From January to May of 2015, Sharon had more appointments with other doctors: an optometrist, who saw nothing wrong with her eyes, though Sharon would soon experience ocular burning; a dermatologist, who didn’t recognize her symptoms; and her primary care physician, who had no suggestions. “I felt as though my face was melting off,” she said.
After researching gum disease specialists, Sharon saw Dr. Jarrett Manning in Smyrna, GA, who recognized her symptoms as pemphigoid. Dr. Manning referred Sharon to Dr. Ronald Feldman, a dermatologist specializing in autoimmune diseases at Emory University. After biopsies and blood tests, Dr. Feldman diagnosed Sharon with mucous membrane pemphigoid (MMP)—a form of pemphigoid characterized by blistering lesions that primarily affects the various mucous membranes of the body, as well as the skin. Soon after, an eye specialist confirmed ocular involvement, which could lead to blindness. This was September of 2015, 14 months after Sharon’s initial symptoms.
Though Sharon found a doctor who was able to diagnose and treat her MMP, she has not yet achieved remission.
“I feel hopeless and fear the possibility of going blind,” Sharon said. “The pain from all of my conditions drains the energy from my body, making it hard to work. I go home, put warm compresses on my eyes, and lie in darkness for two hours. Eventually, I can get up and see my husband for a couple of hours before I go back to bed. Without the additional rest, I cannot do my job. I know that eventually, I will have to go on disability.”
Some emerging treatments, like intravenous administration of rituximab, have not been approved by the FDA for pemphigus and pemphigoid. This makes it difficult or impossible for patients to get approval for such treatments from medical insurance companies.
For Sharon, this has meant playing an anxious waiting game in hope that these treatments will be approved before her disease progresses even further. In fact, it was only during the writing of this post—in April of 2016—that Sharon’s infusions were finally approved by her insurance company after three previous denials and a call to her insurance commissioner.
“It’s sad that you can lose your livelihood, your sight, and maybe even your life, because of delays in… getting a diagnosis and treatment,” Sharon said.
It has been a busy few months for the Awareness Campaign. With outreach to dental students in full swing, it was time to expand our reach to dental practitioners. And where do we find large groups of dentists, dental hygienists, specialists, and assistants? Dental conferences! We rent a booth on the exhibitor floor and talk with dental practitioners as they walk through the exhibit hall. So far, we’ve reached nearly 2,000 dental professionals.
In November, we attended the American Dental Association’s Annual Meeting in Washington, DC. December found us at the Greater New York Dental Meeting in New York City, and in January we kicked off the new year at the Yankee Dental Congress in Boston.
Our current plans call for us to have a booth in Atlanta at the Hinman Dental Meeting in March, followed in April by the Oklahoma Dental Association Meeting in Oklahoma City.
Many of the larger meetings have 20,000+ people attending. There are rows and rows of exhibits and the halls often seem endless! We usually meet with around 600 people per conference, which is pretty good for a small non-profit. We don’t have large hanging signs, bright lights, or fancy electronic displays. But we do have many free resources and great educational materials!
These conferences are usually three or four days long, and we spend eight or more hours each day at the booth. We couldn’t do what we do without the great help of local volunteers, many of whom are pemphigus or pemphigoid (P/P) patients or friends and family of patients. Patients are encouraged to share their diagnosis stories and reinforce the unique role dental professionals play in getting patients diagnosed sooner.
How do we encourage dentists to stop by our booth? We stand near our booth table, smile, and ask, “Have you heard of pemphigus?” or “Is pemphigoid on your radar?” It is that simple! Many people look at us like, “Pemphi-WHAT?” almost as if we are speaking a foreign language. Once we hand them Awareness Postcards, brochures on the campaign with scientific information, and our Quarterly newsletters and they see the names in print, some recognize them because they remember them from school, saw them in a textbook, or have previously diagnosed a patient. For others, it’s the first time they’ve ever heard or seen the words “pemphigus” and “pemphigoid.” It is truly rewarding to be the person who educates someone about these rare diseases.
“Pemphi-WHAT?” In addition to sharing stories and passing out materials, we also ask dental professionals to take a short survey describing their experience and confidence in diagnosing P/P. We asked, “On a scale from 1 to 5, how confident are you in your ability to recognize the clinical presentation of pemphigus and pemphigoid?” About a third (27/85) of dentists and half of hygienists (14/28) reported low levels of confidence in their ability to recognize P/P. We also asked 141 people if they had heard of the IPPF before they stopped by our exhibitor booth; 81% had not.*
These figures support the need for the Awareness Campaign and increased outreach to the dental community. Since such a large percentage of dental professionals had never heard of the IPPF, we also recognized the need to spread awareness of our Foundation in general. We encourage dental practitioners with P/P patients to inform their patients about the IPPF and all of our patient support services.
These conferences are an excellent way for us to meet dental professionals and spread awareness of P/P and the IPPF. Because of the connections we’ve made at these gatherings, we’ve received requests for Continuing Education presentations and dental student lectures; learned about some great media opportunities; had an article written about us; and have secured some awesome product donations for our Annual Conference goodie bags!
Our goal is that one day dental practitioners will pass by our booth and say, “Yes, I already know about your Foundation.” Until then, we will continue setting up our booth and repeating over and over, as many times as it takes, “Have you heard of pemphigus and pemphigoid?”
*2015 data collected by the IPPF at two dental conferences
While you are seeing a qualified dermatologist who is treating you for your Pemphigus Vulgaris, Bullous Pemphigoid, Pemphigus Foliaceus, Mucous Membrane Pemphigoid, etc. you might also be seeing your own dentist, OB/GYN, internist, ophthalmologist or ear/nose/throat specialist.
Please be sure that all of your doctors are aware of your condition and that they have access to your dermatologist. It is important that they know the medications and dosage that you are taking for each medication.
All of your doctors need to be able to communicate with one another if necessary. Being left in the dark will leave you at a disadvantage. Also, if you are going to be scheduled for any major dental work, advise your dermatologist. Depending on the procedure, your medications may be adjusted for a few days prior and a few days following to prevent any flare-ups.
Remember when you need us we are in your corner!
With Pemphigus and Pemphigoid, painful oral lesions frequently occur in the mouth and throat causing difficulty with drinking and eating solid foods. Let’s face it, it can be just painful! Assessing your individual tolerance to foods and adjusting what you are eating will enable you to better understand which foods to eat and which foods to avoid. For many, highly seasoned, acidic, or salty foods are irritating and those foods that are dry, sticky, or abrasive can be difficult to swallow. Extremes in temperatures of liquids or solids such as ice cream or hot chocolate may cause pain for some. In the case of severe mouth sores, use a blender or food processor is accessible.
Here are a few helpful hints to remember:
- Drink liquids through a straw.
- Cook coarse or hard foods, such as vegetables until they are soft and tender.
- Soften or moisten foods by dipping them in gravies or cream sauces.
- Take a swallow of a beverage with solid food.
- Eat small frequent servings rather than a large amount of food at one time.
- Rinse your mouth with water, peroxide, or Biotene during and after eating to help
- Remove food and bacteria and to promote healing.
Having oral lesions can present many challenges including; pain management, oral hygiene, nutritional intake, and your overall health. Speak with your doctor about ways to help relieve the pain and ensure that they are monitoring you blood sugar levels if you are taking systemic steroids. Make sure that you inform your dentist of your condition and require them to use caution when treating you.
If you have difficulty swallowing and find yourself choking on food, see your doctor immediately. Ask to be seen by an ENT so they can help determine the extent of your disease activity. The mouth is often one of the most difficult areas to treat and requires diligence. Changing your behavior and habits can be the biggest “pain” but will eventually pay off. If you need help, encouragement, or suggestions…just “Ask a Coach“!
When you need us, we are in your corner!
Marc Yale – Peer Health Coach