Bud CarusoBud Caruso

First Person StoryFirst Person Story

As A Youth! As A Youth! Born Three Months Born Three Months PrematurePremature

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Health HistoryHealth History

• Diagnosed at age 10 Diagnosed at age 10 First BCCFirst BCC removed by removed by Dr. Lasser of MD Anderson Medical ClinicDr. Lasser of MD Anderson Medical Clinic

• Believed to be a Believed to be a mutation of the genemutation of the gene• No apparent manifestations in the No apparent manifestations in the

extended family at the time of diagnosisextended family at the time of diagnosis• Received treatment at Received treatment at Children’s Children’s

MemorialMemorial Hospital Hospital every Tuesdayevery Tuesday until until referred to local dermatologist, Dr. Frank referred to local dermatologist, Dr. Frank Dunlap who would remove up to 75 lesions Dunlap who would remove up to 75 lesions in a single visit.in a single visit.

Health History ContinuedHealth History Continued• First OKCTFirst OKCT at age 13. I was told it was a at age 13. I was told it was a

wisdom tooth removal. (When do we tell wisdom tooth removal. (When do we tell kids)kids)

• Thousands of BCCs removed in various Thousands of BCCs removed in various ways.ways.

• Loss of health insuranceLoss of health insurance left me with no left me with no treatment for three years. treatment for three years.

• Landed in a financial ruin, mostly a result of Landed in a financial ruin, mostly a result of extensive medical bills.extensive medical bills.

• An emergency health issue landed me at An emergency health issue landed me at an urgent care facility where I was an urgent care facility where I was threatened to be sent to threatened to be sent to Cook County Cook County HospitalHospital where I would be treated and where I would be treated and billed based on what I could afford.billed based on what I could afford.

Cook County HospitalCook County Hospital

Cook County HospitalCook County Hospital

• It was at Cook County that I first learned It was at Cook County that I first learned the full extent of the disorder.the full extent of the disorder.

• Had surgery every Thursday with follow-up Had surgery every Thursday with follow-up appointment for every Tuesday, 3 mos. appointment for every Tuesday, 3 mos. First MohsFirst Mohs here. here.

• Participated in Chicago Dermatology Show Participated in Chicago Dermatology Show each year while at Cook County.each year while at Cook County.

• Was introduced to researchers for trials on Was introduced to researchers for trials on PDT. My PDT. My first memorablefirst memorable clinical trial. clinical trial.

PDT Trials (The Dark Years)PDT Trials (The Dark Years)

• High Dose Photofrin mixed with Hemoglobin High Dose Photofrin mixed with Hemoglobin (five large units)(five large units)

• As many as 80 lesions removed in a session.As many as 80 lesions removed in a session.• Three – Four months out of bright light.Three – Four months out of bright light.• Two years of participation in the study.Two years of participation in the study.• Met Met Dr. Ken AndersonDr. Ken Anderson, , my firstmy first fellow fellow

NBCCS patient NBCCS patient ! An Awesome Guy! Ken ! An Awesome Guy! Ken informed me of a support group for NBCCS informed me of a support group for NBCCS and I contacted the Director and I contacted the Director Susan CharronSusan Charron..

Insurance Again! Hooray!Insurance Again! Hooray!

• Recommended to June Robinson @ Loyola Recommended to June Robinson @ Loyola University Medical Center for Mohs Surgery.University Medical Center for Mohs Surgery.

• Loyola was doing a study on the syndrome.Loyola was doing a study on the syndrome.• Testing showed the gene coming from my Mothers Testing showed the gene coming from my Mothers

side of the family. Never obtained results on side of the family. Never obtained results on Children reportedly due to lack of funding to the Children reportedly due to lack of funding to the program.program.

• Awesome Plastic Surgeon Dr. Juan Angelotz di a Awesome Plastic Surgeon Dr. Juan Angelotz di a great job of preserving my facial features.great job of preserving my facial features.

• It was Dr. Robinson who informed me that what I It was Dr. Robinson who informed me that what I was doing was patient advocacy and it was much was doing was patient advocacy and it was much needed for people with our disorder.needed for people with our disorder.

Current CareCurrent Care

• Currently I am very fortunate to be a Currently I am very fortunate to be a patient at Northwestern Memorial patient at Northwestern Memorial University Hospital by Mohs Surgeon University Hospital by Mohs Surgeon Dr. Murad Alam.Dr. Murad Alam.

• Plastic Surgeon Dr. John Kim.Plastic Surgeon Dr. John Kim.

• Wonderful staff treat me like a Wonderful staff treat me like a celebrity.celebrity.

Family HistoryFamily History

• I am married to my wife Paula for 25 years I am married to my wife Paula for 25 years and we have two children ages 19 (Tony) and we have two children ages 19 (Tony) and 18 (Lauren) who show no signs of the and 18 (Lauren) who show no signs of the disorderdisorder

• I have three Brothers Mike, Al & R.J. and I have three Brothers Mike, Al & R.J. and an foster Sister, Carolan foster Sister, Carol

• Two very large extended families who love Two very large extended families who love me very much. I am an extremely lucky me very much. I am an extremely lucky guy!guy!

My FamilyMy Family

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Our New Additions!Our New Additions!

Enjoying Puerto Rico!Enjoying Puerto Rico!

Family History ContinuedFamily History Continued

• While small signs of the disorder While small signs of the disorder (cleft lip / palette continue to pop up (cleft lip / palette continue to pop up throughout the family the feature I throughout the family the feature I see the most consistently is see the most consistently is denialdenial..

• Told Mother has PTCH gene defect Told Mother has PTCH gene defect and had BCCs, colon cancer, Palmer and had BCCs, colon cancer, Palmer pits and polyps.pits and polyps.

Family History ContinuedFamily History Continued

• Was told Brother has PTCH gene, Was told Brother has PTCH gene, horseshoe kidney calcification of falxhorseshoe kidney calcification of falx

• Nephews have had OKCsNephews have had OKCs• Cousin and his children have had OKCsCousin and his children have had OKCs• Cousin has the “lazy eye lid”Cousin has the “lazy eye lid”• Cleft lip & palate run in the familyCleft lip & palate run in the family• Older Brother recently had a Parotid Older Brother recently had a Parotid

DentocarcinomaDentocarcinoma• I can spot the “typical facies on many I can spot the “typical facies on many

relatives at family reunionsrelatives at family reunions

My Mother & Her SiblingsMy Mother & Her Siblings

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ManifestationsManifestations• Thousands of BCCsThousands of BCCs• Recurrent OKCs (most recent experience)Recurrent OKCs (most recent experience)• Calcification FalxCalcification Falx• SeizuresSeizures• Palmer PitsPalmer Pits• Discectomy at C6 & C7 & deterioration of Discectomy at C6 & C7 & deterioration of

disc, at L4 & L5.disc, at L4 & L5.• Removal of Gallbladder and Thyroid gland Removal of Gallbladder and Thyroid gland

due to excessive calcifications.due to excessive calcifications.• Intestinal polyps & undiagnosed ongoing Intestinal polyps & undiagnosed ongoing

abdominal problems.abdominal problems.

Basal Cell TreatmentsBasal Cell Treatments• ED&CED&C• Interferon InjectionsInterferon Injections• Effudex 5%Effudex 5%• Excision & Plastic SurgeryExcision & Plastic Surgery• Mohs Micrographic SurgeryMohs Micrographic Surgery• Photodynamic SurgeryPhotodynamic Surgery• Laser SurgeryLaser Surgery• CO2 Laser ResurfacingCO2 Laser Resurfacing• DermabrasionDermabrasion• Even I have been offered Radiation by Even I have been offered Radiation by

a University Professor!a University Professor!

Clinical TrialsClinical Trials• Interferon Injections / Children's MemorialInterferon Injections / Children's Memorial• Retinoids (Accutane) / Cook CountyRetinoids (Accutane) / Cook County• Photodynamic Therapy / Ravenswood & Photodynamic Therapy / Ravenswood &

Roswell ParkRoswell Park• Chemoprevention for BCCs with CelecoxibChemoprevention for BCCs with Celecoxib• Sirolimus Study @ Yale / Dr. Alan Bale Sirolimus Study @ Yale / Dr. Alan Bale

(included genetic testing revealing an (included genetic testing revealing an unusual defect.)unusual defect.)

• Currently participating in Tazorac Trial @ Currently participating in Tazorac Trial @ Columbia University / Dr. Bickers.Columbia University / Dr. Bickers.

• Interested in SHH Inhibitor trials and future Interested in SHH Inhibitor trials and future trials.trials.

Great News!Great News!

• After more than 35 years being After more than 35 years being treated for NBCCS it turns out I don’t treated for NBCCS it turns out I don’t have the syndrome!have the syndrome!

• In June of 2009 my DNA was tested In June of 2009 my DNA was tested for the PTCH gene defect with for the PTCH gene defect with negative results!negative results!

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They Call Me Mr. Baseball!They Call Me Mr. Baseball!

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Support Systems & CopingSupport Systems & Coping

• WifeWife & Children & Children

• Extended FamilyExtended Family

• Friends & acquaintancesFriends & acquaintances

• BCCNS FamilyBCCNS Family

• Co-WorkersCo-Workers

• Positive AttitudePositive Attitude

• MusicMusic

• ComedyComedy

History of NBCCS Patient History of NBCCS Patient AdvocacyAdvocacy• Muriel (Dr. Gorlins first diagnosed patient)Muriel (Dr. Gorlins first diagnosed patient)• NBCCS Support Network (Penny Fischer & NBCCS Support Network (Penny Fischer &

Susan Charron) souldansur e-mailSusan Charron) souldansur e-mail• Jim & Margaret Costello / Gorlin Group UK Jim & Margaret Costello / Gorlin Group UK

initially prompted and aided by Professor initially prompted and aided by Professor Farndon and Susan Charron.Farndon and Susan Charron.

• Introduced to Kristie Schmidt Burr through Introduced to Kristie Schmidt Burr through Ren Bradley & Jennifer Werkmeister. Ren Bradley & Jennifer Werkmeister. Jenni’s Mom had found me on the Internet.Jenni’s Mom had found me on the Internet.

• Most rewarding experience of my life.Most rewarding experience of my life.• Future Advocates (& YOU!)Future Advocates (& YOU!)

NBCCS / Gorlin Patient NBCCS / Gorlin Patient AdvocatesAdvocates

THANK YOU!THANK YOU!

•Bud CarusoBud Caruso

• NBCCS / Gorlin Syndrome NBCCS / Gorlin Syndrome Patient AdvocatePatient Advocate

• 629 Oak Street629 Oak Street

• Peotone, Il. 60468Peotone, Il. 60468

• gorlinadvocate@gmail.comgorlinadvocate@gmail.com

• Facebook = Bud CarusoFacebook = Bud Caruso

• http://http://forums.delphiforums.com/forums.delphiforums.com/Gorlinsyndrome/startGorlinsyndrome/start

DON’T FORGET!DON’T FORGET!•PleasePlease help the BCCNS Life Support help the BCCNS Life Support

Network in their continued efforts Network in their continued efforts including sponsoring meetings just including sponsoring meetings just like the one you are attending today like the one you are attending today as well as many additional vital as well as many additional vital services!services!

• BCCNS LSNBCCNS LSN is a 501 C3 Non Profit is a 501 C3 Non Profit Organization. Your generous Organization. Your generous contributions in any amount are contributions in any amount are greatly appreciated and may be tax greatly appreciated and may be tax deductible. Thank you for caring.deductible. Thank you for caring.