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NBCCS / Gorlin Syndrome Bud Caruso Patient Advocate First Person Story As A Youth! Born Three Months Premature . Health History Diagnosed at age 10 First BCC removed by Dr. Lasser of MD Anderson Medical Clinic Believed to be a mutation of the gene
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NBCCS / Gorlin Syndrome Bud Caruso Patient Advocate First Person Story
Health History • Diagnosed at age 10 First BCC removed by Dr. Lasser of MD Anderson Medical Clinic • Believed to be a mutation of the gene • No apparent manifestations in the extended family at the time of diagnosis • Received treatment at Children’s Memorial Hospital every Tuesday until referred to local dermatologist, Dr. Frank Dunlap who would remove up to 75 lesions in a single visit.
Health History Continued • First OKCT at age 13. I was told it was a wisdom tooth removal. (When do we tell kids) • Thousands of BCCs removed in various ways. • Loss of health insurance left me with no treatment for three years. • Landed in a financial ruin, mostly a result of extensive medical bills. • An emergency health issue landed me at an urgent care facility where I was threatened to be sent to Cook County Hospital where I would be treated and billed based on what I could afford.
Cook County Hospital • It was at Cook County that I first learned the full extent of the disorder. • Had surgery every Thursday with follow-up appointment for every Tuesday, 3 mos. First Mohs here. • Participated in Chicago Dermatology Show each year while at Cook County. • Was introduced to researchers for trials on PDT. My first memorable clinical trial.
PDT Trials (The Dark Years) • High Dose Photofrin mixed with Hemoglobin (five large units) • As many as 80 lesions removed in a session. • Three – Four months out of bright light. • Two years of participation in the study. • Met Dr. Ken Anderson, my first fellow NBCCS patient ! An Awesome Guy! Ken informed me of a support group for NBCCS and I contacted the Director Susan Charron.
Insurance Again! Hooray! • Recommended to June Robinson @ Loyola University Medical Center for Mohs Surgery. • Loyola was doing a study on the syndrome. • Testing showed the gene coming from my Mothers side of the family. Never obtained results on Children reportedly due to lack of funding to the program. • Awesome Plastic Surgeon Dr. Juan Angelotz di a great job of preserving my facial features. • It was Dr. Robinson who informed me that what I was doing was patient advocacy and it was much needed for people with our disorder.
Current Care • Currently I am very fortunate to be a patient at Northwestern Memorial University Hospital by Mohs Surgeon Dr. Murad Alam. • Plastic Surgeon Dr. John Kim. • Wonderful staff treat me like a celebrity.
Family History • I am married to my wife Paula for 25 years and we have two children ages 19 (Tony) and 18 (Lauren) who show no signs of the disorder • I have three Brothers Mike, Al & R.J. and an foster Sister, Carol • Two very large extended families who love me very much. I am an extremely lucky guy!
Family History Continued • While small signs of the disorder (cleft lip / palette continue to pop up throughout the family the feature I see the most consistently is denial. • Told Mother has PTCH gene defect and had BCCs, colon cancer, Palmer pits and polyps.
Family History Continued • Was told Brother has PTCH gene, horseshoe kidney calcification of falx • Nephews have had OKCs • Cousin and his children have had OKCs • Cousin has the “lazy eye lid” • Cleft lip & palate run in the family • Older Brother recently had a Parotid Dentocarcinoma • I can spot the “typical facies on many relatives at family reunions
Manifestations • Thousands of BCCs • Recurrent OKCs (most recent experience) • Calcification Falx • Seizures • Palmer Pits • Discectomy at C6 & C7 & deterioration of disc, at L4 & L5. • Removal of Gallbladder and Thyroid gland due to excessive calcifications. • Intestinal polyps & undiagnosed ongoing abdominal problems.
Basal Cell Treatments • ED&C • Interferon Injections • Effudex 5% • Excision & Plastic Surgery • Mohs Micrographic Surgery • Photodynamic Surgery • Laser Surgery • CO2 Laser Resurfacing • Dermabrasion • Even I have been offered Radiation by a University Professor!
Clinical Trials • Interferon Injections / Children's Memorial • Retinoids (Accutane) / Cook County • Photodynamic Therapy / Ravenswood & Roswell Park • Chemoprevention for BCCs with Celecoxib • Sirolimus Study @ Yale / Dr. Alan Bale (included genetic testing revealing an unusual defect.) • Currently participating in Tazorac Trial @ Columbia University / Dr. Bickers. • Interested in SHH Inhibitor trials and future trials.
Great News! • After more than 35 years being treated for NBCCS it turns out I don’t have the syndrome! • In June of 2009 my DNA was tested for the PTCH gene defect with negative results! • ?????????????????????????
Support Systems & Coping • Wife & Children • Extended Family • Friends & acquaintances • BCCNS Family • Co-Workers • Positive Attitude • Music • Comedy
History of NBCCS Patient Advocacy • Muriel (Dr. Gorlins first diagnosed patient) • NBCCS Support Network (Penny Fischer & Susan Charron) souldansur e-mail • Jim & Margaret Costello / Gorlin Group UK initially prompted and aided by Professor Farndon and Susan Charron. • Introduced to Kristie Schmidt Burr through Ren Bradley & Jennifer Werkmeister. Jenni’s Mom had found me on the Internet. • Most rewarding experience of my life. • Future Advocates (& YOU!)
THANK YOU! • Bud Caruso • NBCCS / Gorlin Syndrome Patient Advocate • 629 Oak Street • Peotone, Il. 60468 • gorlinadvocate@gmail.com • Facebook = Bud Caruso • http://forums.delphiforums.com/Gorlinsyndrome/start
DON’T FORGET! • Please help the BCCNS Life Support Network in their continued efforts including sponsoring meetings just like the one you are attending today as well as many additional vital services! • BCCNS LSN is a 501 C3 Non Profit Organization. Your generous contributions in any amount are greatly appreciated and may be tax deductible. Thank you for caring.
