Our Mission

The mission of Soft Bones, Inc. is to provide valuable information, education and support for people living with hypophosphatasia (HPP), their families and caregivers. The Foundation promotes research of this rare bone disease through awareness and fundraising efforts. 

About Us

Soft Bones is a 501(c)3 non-profit, US-based patient advocacy group dedicated to the community of patients, caregivers and families living with hypophosphatasia.

Soft Bones powers the HPP community by raising awareness of this rare, metabolic disease, providing hope by advocating for and funding research, and connecting patients with each other and with the medical community to advance the understanding of HPP. We provide medical information as well as a support system for patients and families living with HPP.

We believe a cure is possible. With modern-day science of gene editing and gene therapy, we work closely with researchers and clinicians to champion collaboration, reduce duplication of efforts, share findings and unite the global HPP community. We also work to position HPP as a favorable subject of research through our Global HPP Patient Registry.

We need your help to unlock the key to HPP. Hypophosphatasia is a serious condition. Scientists are still working to better understand the impact of low levels of alkaline phosphatase in the body: the hallmark of HPP is soft bones,  but there is much more to understand. Join us in helping find the key.

Diversity, Equity and Inclusion

Diversity, equity and inclusion (DEI) is a term used to describe policies and programs that promote the representation and participation of different groups of individuals, including people of different ages, races and ethnicities, abilities and disabilities, genders, religions, cultures and sexual orientations.

Hypophosphatasia does not discriminate, and its effects can be felt by people of all genders, ages, races, ethnicities, socioeconomic statuses, religions, and sexual orientations. As a rare patient population, we have experienced first-hand the impact of what it feels like to be excluded, discounted and ignored. 

As such, the mission of Soft Bones is to provide a place where HPP patients feel that they are not alone, which means our staff is commited to creating an environment that is free from discrimination, where everyone is welcomed and people come to connect, learn and ultimately thrive. 

Our DEI work takes on many forms, from incorporating diverse viewpoints from patients with various levels of severity of HPP, to connecting with researchers from different backgrounds and cultures, to ensuring our materials are available in many different languages and in hard copies as well as online. 

Every person deserves to be listened to, respected, and have access to high-quality healthcare. We are committed to helping all families improve their understanding of hypophosphatasia and build their health literacy in order to become more informed consumers of the healthcare system and become empowered to access the critical care their loved one needs and deserves.

View Our Programs & Services

Meet the Soft Bones Team

Soft Bones is comprised of staff members, a Scientific Advisory Board (SAB), a Board of Directors and Region Leads. The Soft Bones staff manages the daily operations of the foundation. The Scientific Advisory Board oversees material development to ensure medical accuracy and provides strategic guidance for research grants. The Board of Directors governs Soft Bones and monitors all activities. Region Leads provide localized support to a growing and geographically dispersed community.

Board Members

deborah-sittig

Deborah Fowler
PRESIDENT AND FOUNDER

Karen Carolonza - Photo

Karen Carolonza
VP AND FOUNDING BOARD MEMBER

Michelle LaBruno

Michelle LaBruno
TREASURER

Heidi Floyd
SECRETARY

adam

Adam Grenker, Esq
BOARD MEMBER

Scott Nettune - Photo

Scott Nettune
BOARD MEMBER

Brenda Ziegler - Photo

Brenda Ziegler, DO
BOARD MEMBER

Staff Members

Denise

Denise Goodbar
EXECUTIVE DIRECTOR

Untitled-design-2-1

Mary Elizabeth Mulcahy
PATIENT SERVICES & PROGRAM MANAGER

Adriane Eoga
LOGISTICSAND EVENT COORDINATOR

Sue Krug
PATIENT LIASON

Liz Frawley
ADMINISTRATIVE ASSISTANT

Cindy Reasor
PROJECT COORDINATOR

Scientific Advisory Board

Whytephoto

Michael P. Whyte, MD, Chairman

Dr. Carpenter photo

Thomas O. Carpenter, MD

Kathryn McCrystal Dahir, MD

Matthew T. Drake, MD, PhD

Gary S. Gottesman, MD

jose-luis-millan

José Luis Millán, PhD

Lothar Seefried, MD

Jill Simmons, MD

Peter Tebben, MD

tim-wright (1)

Timothy Wright, MS, DDS

US Region/Region Lead Map 

Click to See Regions and Region Leads

View our Financials

2017
990

2018
990

2019
990

2020
990

Mail

Soft Bones, Inc.,
The US Hypophosphatasia Foundation
141 Hawkins Place, #267
Boonton, NJ 07005

Toll-free: (866) 827-9937
Local: (973) 453-3093

deborah-sittig

Deborah
FowlerPresident and Founder

In addition to organizing the patient community around this orphan disease, Deborah Fowler has visited Capitol Hill to raise awareness and educate lawmakers on the intricacies and challenges encountered by patients living with rare diseases, and currently works with the National Institutes of Health and the Social Security Administration to support research efforts and to ensure that patients are entitled to government benefits.

With a background in media, Mrs. Fowler spent more than 10 years in the field as an award-winning television re porter and news anchor in major markets across the country, as well as working in TV production. She produced newscasts and acted as a videographer, field producer, editor, writer and associate producer for ABC and FOX News affiliates in Long Island, NY; Burlington, VT; and Chattanooga, TN. Most recently, she served as a general assignment reporter and associate producer at KDFW, the FOX affiliate in Dallas, TX. She then moved to DWJ Television, where she served as Media Director and headed up a team Media Placement Specialists. In 2003, Mrs. Fowler launched Original Media Concepts, a media relations firm specializing in media strategy and placement. In 2008, she brought her media prowess to Green Room Communications. As Green Room PR’s partner focused on media strategy, Mrs. Fowler brings her expertise to the early stages of PR strategic planning to ensure that key messages are timely and relevant.

She was elected to the Board of the Lakeland Hills YMCA, and over the past two years, has been recognized as a Leading Woman Entrepreneur in New Jersey. In 2014, Mrs. Fowler she was among the top 25 in the state and was recognized by the Boy Scouts of America as Woman of the Year.

Karen Carolonza - Photo

Karen Carolonza
President and Founder

Karen Carolonza is a proven public relations and communications professional with more than 20 years of global experience in the healthcare, chemical and TV news industries. Karen is one of the founding partners of Green Room Communications and built strategic communications teams and offices in Northern New Jersey, New York City and Cambridge, Massachusetts to meet the critical and evolving needs of her clients.


Before starting Green Room, Karen was the director of worldwide public relations at BD (Becton Dickinson & Company),
a leading global health communications company specializing in infectious diseases like HIV and TB and was responsible for the creation of the first-ever global public relations department. Karen supported the areas of internal communications, government relations, trusted partners, social investing and business marketing. She and her team developed public relations and advocacy programs in support of key businesses including, HIV/AIDS, TB, Diabetes, Influenza, Healthcare-Associated Infections, Ophthalmology, and other global health issues. During her time at BD, Karen liaised with UNAIDS to announce the Clinton Foundation’s move to cut prices on AIDS tests with press materials and media strategy.

Karen also served in communications roles at DuPont-Merck (Now DuPont Pharmaceuticals) as part of the launch team for the first, once-daily HIV medicine. She has additional expertise in corporate PR, including Exxon Chemical Company where she was hired away from TV news to help manage the Valdez crisis. Karen spent the first part of her career as an NBC affiliate television news reporter in the Midwest and East Coast, reporting on key healthcare and political issues.

Karen served as a volunteer on the CDC Foundation to advocate for Health Protection Goals. Karen is a member of the ExlPharma PR Steering Committee and chaired its annual national Summit for six years.

Michelle LaBruno

Michelle LaBruno
Treasurer

Michelle LaBruno is a Partner at PKF O’Connor Davies, LLP with over 20 years of experience practicing accounting and auditing with a concentration in servicing not-for-profit organizations, including charitable organizations, labor unions and voluntary health and welfare organizations. As an engagement partner, Michelle is involved in the planning and execution of client engagements and the supervision of staff. She places an emphasis on managing the unique needs of her clients and develops an audit approach that is specific to each client engagement.

In addition to providing audit, review and compilation services, Michelle has also developed an expertise in union contract analysis. She has worked with attorneys during negotiations and has provided testimony during numerous arbitration hearings on behalf of her clients.

Heidi Floyd - Photo

Heidi Floyd
Secretary

Heidi Floyd is the Vice President of Strategic Operations & Integration at Green Room Communications. She brings a decade of communications, media relations and event management experience that she uses to handpick “dream teams” for clients. Heidi harmonizes projects and operations across Green Room to ensure client priorities, budgets and timelines are met, coaching teams along the way.


Over the years she has developed personal relationships with reporters at trade, consumer and business outlets, including: Oprah, Good Morning America, USA Today, Oncology Today, CNN, FOX & Friends, MSNBC, USA Radio Network and The Star-Ledger.


After losing her father-in-law to lung cancer, Heidi became a proponent for cancer research and served as PR and Marketing chair for local American Cancer Society Relay for Life events (2007-2009). As captain of the Tallahassee Community College Speech and Debate Team (forensics), Heidi led her team to a state championship and secured second place in a national competition.

adam

Adam Grenker, Esq.
Board Member

Adam Grenker is a partner at Fox Rothschild, LLP, a NJ-based law firm. He focuses his practice on estate and trust matters, business succession planning as well as tax matters of nonprofit organizations and charitable succession planning.


Prior to joining Fox Rothschild, Adam was a partner at the first of Deener, Hirsch & Shramenko, P.C. and was previously associated with Kirkland and Ellis, LLP and Loeb, Block & Partners in New York, New York. He is an active member of the American Bar Association, the New York State Bar Association, the New Jersey State Bar Association, the Estate Planning Council of Northern New Jersey and the Society of Financial Service Professionals and he was selected as a “New Jersey Rising Star” by New Jersey Monthly Magazine and Law & Politics Magazine in 2010, 2012 and 2013.After earning his Bachelor’s of Science degree from the University of Virginia, he was awarded his J.D. at the University of Pennsylvania Law School.

Scott Nettune - Photo

Scott Nettune
Board Member

Scott has been in the financial services industry for 19 years. He joined Merrill Lynch Wealth Management in 2018 after spending four years at The Wells Fargo Private Bank as a Wealth Advisor and Senior Vice President. Prior to joining Wells Fargo Scott was an Executive Director at JPMorgan’s Private Bank for 14 years, where he held multiple roles throughout the organization and spent time on the Restricted Stock Desk, specifically working on 10b5-1 plans. Scott is responsible for understanding and managing the financial situations of high-net worth clients. He first identifies each client’s life goals and financial strategy, and then coordinates a team of specialists to implement a comprehensive wealth plan to help accomplish their financial goals.


Scott received a Bachelor of Arts in Accounting and Finance from Gettysburg College in 1999 and lives in Chatham, NJ with his wife and their 3 children. Scott holds the FINRA Series 7 and 66 registrations.

Brenda Ziegler - Photo

Brenda Ziegler
Board Member

Brenda L. Ziegler, D.O., is a Board Certified Family Medicine Physician who specializes in comprehensive health care management of adults and children utilizing a multi-dimensional approach to treat patients with diverse healthcare needs.


Dr. Ziegler is passionate about family medicine, is dedicated to patient care and has a special interest in sports medicine. She works with her patients to develop and implement strategies for disease prevention, treatment of injuries and illness, and management of chronic diseases. Dr. Ziegler has extensive experience in hospital, outpatient, school and athletic settings in providing medical care to her patients. She is the Medical Director for the East Hanover School District in NJ.

Dr. Ziegler earned her undergraduate degree from Princeton University and received her doctoral degree from the University of Des Moines in Iowa. Her internship was completed at Oakland General Hospital in Madison Heights, MI and her residency in Family Medicine was completed at Overlook Hospital in Summit, NJ.

Dr. Ziegler is a competitive Masters Swimmer and enjoys 5K Running Events to raise money for her favorite charities.

Whytephoto

Michael P. Whyte, MD
Chairman

Michael P. Whyte, M.D. is Professor of Medicine, Pediatrics, and Genetics at the Washington University School of Medicine and a medical staff member of Barnes-Jewish Hospital in St. Louis, Missouri.  He is also the Medical-Scientific Director of the Center for Metabolic Bone Disease and Molecular Research at Shriners Hospital for Children in St. Louis, which serves as a national and international resource for the diagnosis, treatment, and investigation of disorders of bone and mineral metabolism and skeletal dysplasias in children.

Dr. Whyte has authored or coauthored more than 400 scientific papers or book chapters concerning pediatric and adult metabolic bone diseases.  His research interests include the cause, pathogenesis, and treatment of metabolic bone diseases in children and adults; especially genetic forms of rickets such as hypophosphatasia and X-linked hypophosphatemia, brittle bone diseases like osteogenesis imperfecta, and conditions that cause dense bones such as osteopetrosis. Laboratory investigations include chromosomal mapping and then searches for mutated genes to relate to clinical observations for phenotype/genotype correlations. He was involved in the research for bone-targeted enzyme-replacement therapy for hypophosphatasia that received FDA approval in 2015.
Dr. Whyte serves on the editorial boards of several medical journals and is a member of the American Society for Bone and Mineral Research.

Dr. Whyte earned his M.D. degree at Downstate College of Medicine, State University of New York in Brooklyn, New York and then trained in Internal Medicine at Bellevue Hospital in New York City before spending two years as a Clinical Associate at the National Institutes of Health in Bethesda, Maryland. After a fellowship in their Division of Bone and Mineral Diseases, he joined the faculty of Washington University School of Medicine, St. Louis, Missouri.

Dr. Carpenter photo

Thomas O. Carpenter
MD

Thomas O. Carpenter, MD, is Professor of Pediatrics (Endocrinology) and Orthopaedics and Rehabilitation at the Yale School of Medicine.

After undergraduate studies at the University of Virginia, he received his medical degree and general pediatrics training at the University of Alabama. His fellowship training in endocrinology at Boston Children’s Hospital began his career-long involvement in clinical research focused on metabolic bone diseases in children.

He has been at Yale for more than 30 years and is very active in the Yale Bone Program, including director of Yale’s Pediatric Metabolic Bone Disease clinic, and Director of the Yale Center for X-Linked Hypophosphatemia. The program at Yale serves as a nucleus for the clinical care of families with XLH throughout the Northeast as well nationally. Dr. Carpenter also serves as Medical Director of the Yale Center for Clinical Investigation’s Hospital Research Unit.

Dr. Carpenter has served on various editorial boards of Pediatric, Endocrinology, and Bone journals, and is currently an Associate Editor of the The Journal of Bone and Mineral Research. He has authored over 200 articles, reviews, and book chapters related to metabolic bone disease in children.

Dr. Kathryn Dahir

Kathryn McCrystal Dahir
MD

Kathryn McCrystal Dahir, M.D., received her undergraduate education at the University of Virginia and attended medical school at Eastern Virginia Medical School.  She completed her internship and residency in internal medicine at Vanderbilt University Medical Center in Nashville, Tennessee.  She completed her fellowship in endocrinology and metabolism at Vanderbilt University Medical Center and then joined the faculty.  She is currently the course director for a combined endocrine and rheumatology fellowship educational program of metabolic bone disorders, and serves on the faculty for the Soft Bones HPP TeleECHO Education Program.

Dr. Dahir is an international leader in comprehensive family-focused clinical, research, and academic program focused on the delivery of research opportunities and breakthrough therapies to patients and families with rare and ultra-rare hereditary metabolic bone disorders.=

Dr. Dahir’s current collaborative research projects integrating technology and medical research include projects with orthopedics, engineering, structural biology, biovue, the UDN, the imaging institute and industry. Her rare disease portfolio includes: HPP, OI, XLH, TIO, FOP among others.

DrDrakePhoto

Matthew T. Drake
MD, PhD

Dr. Matthew T. Drake is a Consultant and Associate Professor in the Department of Medicine, Division of Endocrinology at Mayo Clinic in Rochester, Minnesota.

Dr. Drake graduated from Harvard College and completed his MD and PhD degrees at Washington University in St. Louis. After clinical training in Internal Medicine at Duke University Medical Center in Durham, North Carolina, Dr. Drake completed his Endocrinology fellowship training at the Mayo Clinic, where he subsequently joined the staff.  He is board certified in Endocrinology.

In his clinical practice, Dr. Drake provides care to patients with a variety of metabolic bone diseases including hypophosphatasia. In addition, he performs translational research with areas of interest including understanding the mechanisms underlying age-associated bone loss, as well as the basis by which monoclonal gammopathies induce bone loss and fractures.


Dr. Drake currently serves as chair of the ASBMR Professional Practice Committee.  He has also served on various editorial boards of multiple Endocrinology and Bone journals, and has authored over 100 articles, reviews, and book chapters.

2020 Portrait

Gary S. Gottesman
MD

Gary S. Gottesman, MD, is Professor of Pediatrics and Medicine, at Washington University School of Medicine in St. Louis (WUSM), in the Divisions of Endocrinology & Diabetes, Genetics & Genomic Medicine and the Division of Bone & Mineral Diseases.  After graduating from Harvard College he attended the University of Michigan Medical School and completed his pediatrics and medical genetics training at the St. Louis Children’s Hospital and Washington University School of Medicine.  He was in the first class of the Howard Hughes Medical Institute – National Institutes of Health Research Scholars Program in 1985-1986.  His medical genetics fellowship was funded by the Pediatric Scientist Development Program. He is board certified in Pediatrics and Medical Genetics.

After almost two years on the Faculty in the Department of Pediatrics in the Division of Medical Genetics at WUSM jointly working at the Shriners Hospitals for Children-Saint Louis with Michael P. Whyte, MD, Dr. Gottesman moved to the Saint Louis University (SLU) School of Medicine for several years. He left for a position at the National Human Genome Research Institute and subsequently moved to the National Institute on Aging.  Dr. Gottesman returned to SLU as Director of the Division of Medical Genetics in 2003.  He served on the SSM Health Cardinal Glennon Children’s Medical Center Ethics Committee for seven years.  In 2008, he became Academic Chair of the Department of Physician Assistant Education and Program Director of the Physician Assistant Program at SLU, before returning to the Shriners Hospitals for Children-St. Louis in early 2011. In that position, Dr. Gottesman contributed to the patient care, research, and educational missions of the Center for Metabolic Bone Disease and Molecular Research, resulting in the publication of a number of articles on rare and heritable bone disorders and skeletal dysplasias. In 2019, he was appointed as Medical Director of the Genomics Institute, Shriners Hospitals for Children based in Tampa, Florida.  After the closure of the in June of 2021, he returned to WUSM where he hopes to develop a new metabolic bone training pathway through the pediatric endocrinology and medical genetics fellowship programs  while expanding the adult rare bone disease clinic in the Division of Bone & Mineral Diseases.  This new position allows him to provide specialized medical care to patients and families with rare but debilitating skeletal disorders across the lifespan.

jose-luis-millan

José Luis Millán
PhD

José Luis Millán, Ph.D. is Professor at the Sanford Children’s Health Research Center, the Sanford Burnham Prebys (SBP) Medical Discovery Institute. After receiving his early training in clinical chemistry/biochemistry at the University of Buenos Aires, Argentina, Dr. Millán first joined the La Jolla Cancer Research Foundation (LJCRF) in 1977, the predecessor of SBP, as a trainee in clinical enzymology. He completed his Ph.D. studies in Medical Biochemistry at the University of Umeå, Sweden, post-doctoral stints in Copenhagen and LJCRF and he also served as Professor of Medical Genetics in the Department of Medical Biosciences at his alma mater, Umeå University, Sweden. Dr. Millán works on understanding the mechanisms that control normal skeletal mineralization and the pathophysiology of disease states such as hypophosphatasia and vascular calcification. His research has contributed to the development and implementation of the first successful treatment for infantile hypophosphatasia and current efforts to prevent and treat vascular calcification, a condition common in end-stage renal disease, obesity, diabetes and aging.

Seefried photo

Lothar Seefreid
MD

Dr. Lothar Seefried is an orthopaedic and trauma surgeon, heading the Clinical Trial Unit and the Department for Bone Metabolism at the Orthopaedic Institute, University of Wuerzburg, Germany.

Dr. Seefried’s work area comprises metabolic musculoskeletal disorders, integrating specific medical treatment, exercise interventions and orthopaedic surgery in settings of compromised bone quality, specifically in rare bone diseases, osteoporosis and sarcopenia. Along with that, he has a scientific focus on rare metabolic diseases with musculoskeletal involvement, including hypophosphatasia, osteogenesis imperfecta, phosphate wasting disorders, osteopetrosis and even rarer entities as well as geriatric orthopaedics. His department is conducting clinical trials Phase I-VI covering the entire field of muscle, bone and joint disorders.

Simmons photo

Jill Simmons
MD

 Dr. Jill Simmons is a Professor of Pediatrics in the Ian M Burr Division of Pediatric Endocrinology and Diabetes at Vanderbilt University Medical Center. She is the founder and director of the Vanderbilt Program for Pediatric Metabolic Bone Disease, the founder and chair of the Hazinski Society for Faculty Development, and the Director for Faculty Mentorship Programs at Vanderbilt University.  She is a member of the scientific advisory board for Soft Bones as well as the Rare Bone Disease Alliance.

Dr. Simmons’ clinical and research interests include type 1 diabetes as well as pediatric metabolic bone diseases such as hypophosphatasia, osteogenesis imperfecta, osteoporosis, and rickets. She has been a successful local principal investigator for multiple clinical trials in metabolic bone disease, including asfotase alpha in infants with severe hypophosphatasia, denosumab in pediatric patients with osteogenesis imperfecta, and burosumab in pediatric patients with hypophosphatemic rickets.  She is currently investigating functional motor status and gait in adolescents and adults with hypophosphatasia, and she is an active investigator in international longitudinal observational registries of patients with hypophosphatasia as well as x-linked hypophosphatemic rickets.  She is a local principal investigator in the Type 1 Diabetes Exchange, a multi-institutional collaboration to improve the lives and care of patients with type 1 diabetes, and her research in type 1 diabetes has been widely published. She has led numerous trials evaluating continuous glucose monitors and insulin infusion pumps as well studies focusing upon celiac disease, bone health, adherence, ancillary medications, and hypoglycemia in patients with type 1 diabetes.

Dr. Simmons’ research has been presented at the Scientific Sessions of the American Diabetes Association, and the annual meetings of the Pediatric Academic Societies, the Endocrine Society, and the European Society for Pediatric Endocrinology.  She has published more than 50 manuscripts in peer reviewed journals, including but not limited to the New England Journal of Medicine, Lancet, Journal of Pediatrics, Diabetes Care, Pediatric Blood and Cancer,  Biology of Blood and Marrow Transplantation.  She serves as a regular reviewer for Diabetes Care, Journal of Clinical Endocrinology and Metabolism, Journal of Clinical Investigation, Pediatric Blood and Cancer,and Pediatric Diabetes.
In addition to her research, she is an active clinician and educator.  She spends the majority of her time with patients as well as educating pediatric residents and endocrinology fellows to better care for children with endocrine diseases. She has been named one of America’s Best Doctors by Castle Connelly for the past 7 years and a national “Exceptional Woman in Medicine” every year since the award’s inception 3 years ago.

Tebben headshot

Peter Tebben
MD

Peter Tebben MD is an Associate Professor of Medicine and Pediatrics and holds a joint appointment in the Divisions of Endocrinology in the Departments of Internal Medicine and Pediatrics at Mayo Clinic, Rochester, MN. His research interests stem from the clinical care of both children and adults with heritable and acquired skeletal dysplasia and metabolic bone disorders. Dr. Tebben earned his medical degree at the University of Kansas and completed residency in Internal Medicine and Pediatrics at the University of Minnesota. He completed his training at Mayo Clinic in Adult and Pediatric Endocrinology in 2006 where he now serves as a consultant in the Bone Core Group. He continues to engage in clinical research of children and adults with metabolic bone disorders and serves as the director of the Pediatric Metabolic Bone Clinic at Mayo Clinic in Rochester, Minnesota.

tim-wright (1)

Timothy Wright
MS, DDS

Dr. Wright currently serves as the Bawden Distinguished Professor at the University of North Carolina at Chapel Hill Adams School of Dentistry. He is in the Department of Pediatric and Public Health, and is a former chairman of the department.

Dr. Wright completed his D.D.S. degree from West Virginia University and went on to pursue his pediatric dentistry residency and a National Institute of Health Postdoctoral Fellowship in Caries Research at the University of Alabama in Birmingham, prior to joining the faculty at the University of North Carolina at Chapel Hill.

Dr. Wright has authored more than 200 publications and his research focuses on the diagnosis and treatment of developmental defects in teeth resulting from hereditary and environmental condition as well as and understanding normal tooth development.


Dr. Wright has served as the President of the American Association for Dental Research, and as chair of the American Dental Association’s and the American Academy of Pediatric Dentistry’s Council on Scientific Affairs.  He maintains an active private practice that includes providing care to patients with special medical and dental health care needs.