It's a condition that can have more than 100 different manifestations in a patient's body, from dozens of cancerous skin lesions to mental retardation. Basal Cell Carcinoma Nevus Syndrome affects one in 64,000 people in the world. This weekend BCCNS sufferers and their families found comfort in knowing they're not alone. 90.3's Renita Jablonski spent time at the nation's first-ever BCCNS Support Network spring retreat -- right here in northeast Ohio.
Bud Caruso- All of our life we're told how rare this disorder is, that you know, there's more out there, there's a few out there somewhere but you're not likely to meet anybody.
Renita Jablonski- Bud Caruso is a real estate agent from Illinois and a 30-year patient of Basal Cell Carcinoma Nevus Syndrome.
BC- My whole life, I know I was longing to meet with someone who had the symptom, somebody who had walked in my shoes and that I can share some things with.
RJ- This weekend Caruso met many people that have walked in his shoes. In fact, he's been reaching out to other BCCNS patients for the last couple years, using the internet to distribute information and services for others with the disease. And it was in this way that Caruso developed a relationship with Kristi Schmitt Burr here in Cleveland -- she too was looking for others to understand.
Kristi Schmitt Burr- People who have just basal cells and there's nothing "just," I guess I need to really define that, there is no such thing as "just a basal cell." You can die with having untreated, undiagnosed basal cells but this is a genetic disorder, this is not just from exterior effects, such as the sun, which is also a catalyst of this disease but you are born with it genetically.
RJ- Today Schmitt Burr is the President of the Basal Cell Carcinoma Syndrome Life Support Network. Based in Burton, Ohio, about an hour east of Cleveland, it's the first of its kind in the country. Schmitt Burr says the group works towards providing a network of healthcare, counseling, and support services to children and adults that suffer from BCCNS.
KSB- People who have this condition have many manifestations, over a hundred manifestations of it as they go through their life. Some children are born with hydrocephalus, some are born with cleft palate. You can have extensive jaw cysts, bone tumors, you can have meningiomas of the brain, later in life you have multiple skin cancers, very invasive basal cell nevus syndrome cancers that are very invasive and with that comes a lot of scaring, maming.
RJ- BCCNS is known by other names including Nevoid Basal Cell Carcinoma Syndrome and Gorlin's Syndrome, named after Dr. Robert Gorlin, one of the first physicians to identify and follow the progression of the disease in the 60's. Dr. Gorlin was a speaker at this weekend's retreat in Aurora, telling the story of his first encounter with the disease.
Robert Gorlin- Muriel comes in the following Saturday and Muriel, I noticed has a head which is too large for Muriel. And Muriel had a prosthetic left eye. The only other thing I noticed immediately was that she was sort of hunched. And I said to Muriel, "You know, on your face you seem to have a lot of lesions that don't look too good to me." And she says, "Well what do you think they are?" And I said, "Well, I think they're basal cell cancers."
RJ- Gorlin says the internal manifestations of the syndrome, such as skeletal or organ malformations, aren't among the things that make life challenging for patients of the disorder but rather, those signs visible in their appearance. Jim Costello and his wife, Margaret, traveled across the Atlantic Ocean to attend the Conference. They are the founders of the Gorlin Support Group in England. Numerous surgeries to remove basal cell cancers have cut away much of Costello's face, leaving him with large patches of scars. He is without a nose and a little more than scabs are left where his ears once were.
Jim Costello- I'm not a medical professional, I'm a sufferer as you can see but at the end of the day, we give them all the information and they, it's their choice at the end of the day what treatments they have, it's their choice what the future holds.
RJ- Costello says since there is no cure for the genetic disorder, education is the biggest tool available to empower patients. Schmitt Burr explains that treatment relies on constant surveillance for and treatment of the findings, most often requiring surgical removal of tumors.
KSB- You in your lifetime will see a neuro surgeon, you will see oral surgeons, profuse oral surgeons as you're growing up.
RJ- Genetic counseling also becomes critical in the ongoing care of a patient with Gorlin's, especially with issues of having children. Both Schmitt Burr and Margaret Costello have lost children to the disease.
KSB- So people are asking should we have children or not, people who are dating say how do I tell my prospective significant other how to present this to them, in mid-age we're looking at some life-care decisions, long-term. Some of us are losing our sight, some of us may have a brain tumor with this and you wonder to what degree you will be able to function at all with this.
RJ- And while all of those answers are clear, the Life Support Group provides a place to go with those questions. In Aurora, Renita Jablonski, 90.3 WCPN.