GREENSBORO, N.C. — More than 300 million people in the world live with a rare disease. More than 70% of rare diseases are genetic, and they may start in childhood. So, early diagnosis is crucial.
There are about 7,000 known rare diseases and more than 90% don't have cures.
The National Organization for Rare Disorders (NORD) works with EURORDIS (Rare Diseases – Europe) and others all around the world to drive an international campaign that shines a light on rare diseases and advocates for health equity for all those living with a rare disease.
"Although each rare disease affects fewer than 200,000 Americans in total, these diseases affect an estimated 30 million people in the United States. In other words, one in 10 Americans are suffering from rare diseases, and more than half of them are children," said Dr. Rita Pichardo-Geisinger of Atrium Health Wake Forest Baptist.
THE SEARCH FOR A DIAGNOSIS
The statistics hit close to home here at WFMY News 2. Carrie Hodgin, a Senior Digital Producer, was diagnosed with a rare disease.
"I'm on a mission to save lives. I don't want anyone to suffer as I have. I've turned into a patient advocate," Hodgin said.
She is the co-worker who brings sparkle to the daily Zoom meetings. She decorates the desks of co-workers who have birthdays, get engaged, or return from maternity leave.
Most of us had no idea she spent the last 19 years searching for answers.
“It's one of the hardest parts, you go from doctor to doctor, just hoping to get answers and there are just no answers,” Hodgin said.
Her disease, like so many with a rare disease, has no cure. Living with a chronic disease is exhausting mentally and physically.
“I knew I needed support, so I asked folks on Facebook who know me to wear the color purple. I've kept all the photos and whenever I'm in deep pain, that's what I go through and look back on,” Hodgin said.
Dr. Pichardo said her patients have usually suffered for a long time before finding her. “They come to the clinic after many years of suffering and visiting many providers and patients are anxious, frustrated and depressed.”
Making it through every day is difficult.
“I want people to know if you're fighting a chronic illness, there is hope. You can fight through it. You can get through it,” Hodgin said.
CARRIE'S RARE DISEASE
"Today, I can sit here, which I think is a miracle, and not be in constant pain. I didn't have that for 19 years, I really suffered," Hodgin said.
Nineteen years of smiling in photos while hiding a secret she didn't fully understand.
“I never, ever, ever thought I'd talk about it at all. I used to tell my husband, Adam, I'm taking this to my grave.”
It all started right after Carrie and Adam were married. They spent a night together, being intimate. In the morning, she was awakened by intense itching.
“At first I thought, it's just an infection and I'll go get it taken care of, but it's 19 years later and I still have it.”
She spent nearly two decades going doctor to doctor, searching for relief.
“There are so many times I've wanted to give up. What kind of life is this? When you don't have the quality of life, when you can't use the restroom without being in pain, when you can't be intimate with your husband, where you're constantly itching. It's hornets stinging you, red ants biting you,” she said.
The mystery nightmare ended with a diagnosis, but it was devastating.
A rare disease with no cure.
She has Lichen Sclerosus or LS. It is an autoimmune inflammatory genital skin disease. It causes intense itching, it can deform the genitals, it can lead to cancer. It causes the skin to tear or shred. Your skin bruises, it bleeds, it tears, it blisters. It causes itching, burning, wounds, cracking and unbearable pain. That's just the medical impact.
READ MORE ABOUT LICHEN SCLEROSUS
“It takes so much from you. It takes away your womanhood. It takes away your confidence. It takes intimacy away,” Hodgin said.
The disease didn't take away Carrie and Adam's resolve to fight this together.
“I just try to encourage her, try to keep her from going to a dark place, not trying to give up,” Adam Hodgin said.
Carrie Hodgin said you find out what you're made of as a couple and you find out where you draw your strength.
“For us, it was turning to our faith and knowing when we took those vows, we meant it,” Carrie Hodgin said.
It is the part of the vows you say, but don't fully understand on your wedding day.
“Chronic suffering and you just don't know how you're going to make it through the next five minutes, the next 30 minutes, the next hour. You're in meetings, you're talking to people and you're itching so much and you can't do anything about it and your body just breaks out in sweats because there's no way to deal with the itching,” she said.
Her diagnosis took 19 years, but with a new doctor, a specialist, there is at least treatment.
“The moment I walked into the office, I just knew this is where I was supposed to be and you're going to get the help you need,” she said.
Dr. Rita Pichardo heads a clinic at Atrium Health Wake Forest Baptist designed specifically for women with rare diseases.
“I like them to be involved in the process, I can't do it all by myself. I feel like a patient needs to be motivated and it's my job to motivate them,” said Dr. Pichardo. Routinely, the doctor takes pictures of the affected area, shows the spouse and the patient in order to walk them both through the treatment.
She now has hope for the first time and to celebrate she decorated the exam room for the doctor.
“That was so emotional, I didn't expect it. I really appreciate Carrie and all the things she's doing for herself and also for other women to raise awareness and educate the community,” said Pichardo.
“I want people to know if you are fighting a chronic illness, there is hope,” Carrie Hodgin said.
How to Contact Carrie Hodgin
You can share your personal story with Carrie Hodgin by emailing email@example.com
We are rare in our cities but across the world, we stand together. We might not be able to hug each other but we can message each other. We can talk it out on Facebook.
Facebook Support Groups
Facebook has private groups to support women with LS.
- Sharing is Caring About Lichen Sclerosus Et Al is a highly supportive Facebook group that is private.
- Lichen Sclerosus Support Group is another private Facebook group.
- Lichen Sclerosus & Lichen Planus Skin Disorder private Facebook group. This group is great for discussing both diseases and providing support.
- Lichen Sclerosus - sclerosis - UK Support Group for Women - This Facebook group sticks to proven research and does not allow borax talks which is something you should know as a newcomer.
Hospital Support Groups
You can also reach out to a local hospital to see if they offer support groups.
I'm in the process of starting up a support group at Atrium Health Wake Forest Baptist Hospital and will update you on the status.
Wake Forest Baptist Dermatology has a Women's Clinic to treat women with LS.
If you have a support group, rare disease or LS story that you want to share email firstname.lastname@example.org
NORD - About Lichen Sclerosus
Cedars Sinai - Who gets Lichen Sclerosus? Diagnosis and treatment
National Organization for Rare Disorders
Find out about rare diseases and also about becoming a patient advocate by visiting NORD.
Connect with GARD the Genetic and Rare Diseases Info. Center
National Suicide Prevention Lifeline - 1-800-273-8255.
Rare Disease Support
About Rare Disease Day
WHAT WE CAN ALL LEARN FROM A DR. WHO TREATS RARE DISEASES