Birmingham, AL – 22q Clinic
Children’s of Alabama
Address: 1720 2nd Ave South, Kaul 202C – Birmingham, AL 35294
Phone: (205) 996-9480
Geneticist: Nathaniel Robin, MD
Genetic Counselor: Katie Nelson, MS, CGC
Clinic Coordinator: Asiah Reaves, BS
Phoenix, AZ – The 22q Clinic
Phoenix Children’s Hospital – 1919 E Thomas Road – Phoenix, AZ 85016
Phone: (602) 933-2252
Medical Director: Theresa A. Grebe, MD
Fax: (602) 933-2415
The 22q Clinic at Phoenix Children’s Hospital is the only comprehensive, multidisciplinary program in Arizona for children and adults diagnosed with 22q11.2 deletion syndrome. Patients are seen by all of the specialists they need, all in one day and place. The clinic is staffed by a group of physicians and allied health professionals experienced in caring for individuals with 22q11.2 syndrome. The Clinic, created in 2014, currently serves patients from birth through the age of eighteen, and has seen over 200 patients to date.
The clinic offers a multidisciplinary treatment approach for children and adults. Patients are thoroughly evaluated for medical problems associated with 22q11.2 deletion syndrome by a dedicated team of subspecialists who perform laboratory tests, imaging studies, and comprehensive medical evaluations. The clinic is also home to a virtual team of specialists including an endocrinologist, immunologist, gastroenterologist and hematologist, as well as a clinic coordinator.
Specialties served by the clinic include the following; Genetics, Cardiology, Craniofacial Plastic Surgery, ENT, Endocrinology, Immunology, Psychiatry, Dental/Orthodontics, Nutrition, Occupational Therapy, Physical Therapy, Speech Pathology, and Social Work.
A typical visit for a recently diagnosed patient with 22q seen by the team, led by a board-certified medical geneticist, may consist of the following, as soon as possible after the referral is received:
- Patient is seen in the genetics clinic for an initial evaluation and genetic counseling. The patient is then placed on our priority patient list for an upcoming clinic, in the appropriate age group.
- Patients seen in the 22q Clinic at PCH spend a full day with the team. They typically begin their day at 7:30 am for their initial intake, then are seen by 5 specialists: the geneticist, cardiologist, psychiatrist, physical therapist, and occupational therapist. They may also have an EKG and echocardiogram. Then, they go to the lab for blood tests for symptoms of 22q.
- Patients and their families enjoy lunch together with the other families seen in clinic that day, in a private room. A parent volunteer from the Arizona 22q Support Group joins them and provides information about their local 22q community, the on-line support group and family activities sponsored by the clinic.
- In the afternoon, patients are seen by the second half of the 22q medical team: the ENT physician, craniofacial plastic surgeon, speech therapist, and orthodontist. Occasionally, other specialists will see the patient as needed.
- Families are provided snacks and toys throughout the day. Their clinic experience lasts until approximately 3:30 pm.
After the evaluation, the 22q medical team meets for a post-clinic conference and prepares a comprehensive, individualized medical treatment plan for the patient. The team report is created and sent to the family, the patient’s primary care physician, and cardiologist. The medical director contacts the family with the treatment plan, as well as the patient’s lab results. If further imaging or referrals are needed, the medical director or pertinent specialist orders the follow-up testing needed.
In addition to addressing the medical and emotional needs of both their pediatric and adult patients, the 22q medical team also works with families to implement effective learning symposia and social gatherings to help them grow socially, thereby focusing on the total well-being of the patient and family.
Los Angeles, CA – UCLA 22q Clinic at Children’s Health Center
UCLA 22q Clinic
UCLA Children’s Health Center – 200 UCLA Medical Plaza, Suite 265 – Los Angeles, CA 90095, USA
Marina Dutra-Clarke, MS, CGC
Phone Number: (310) 206-6581
UCLA 22q Team:
Sulagna Saitta, MD, PhD – Pediatric Genetics
Marina Dutra-Clarke, MS, CGC – Genetic Counselor
Caroline Kuo, MD – Pediatric Allergy & Immunology
Greg Perens, MD – Pediatric Cardiology
The UCLA 22q Clinic is a multidisciplinary specialty clinic created in 2015 to serve children and adults diagnosed with 22q11.2 deletion and duplication syndromes. Their mission is to provide comprehensive medical management specific to 22q11.2 deletion and duplication syndromes through a collaborative team approach.
The UCLA 22q Clinic includes a geneticist, genetic counselor, immunologist, and cardiologist, with consultations from endocrinologists and psychiatrists. Consultations in the UCLA Craniofacial clinic may be scheduled on the same day and take place in the same suite. The 22q clinic is offered on the second Wednesday of every month at 200 UCLA Medical Plaza. Craniofacial clinic is available in the afternoon of the UCLA 22q clinic visit. https://www.uclahealth.org/mattel/pediatric-craniofacial-program
Los Angeles, CA – Children’s Hospital of Los Angeles
Address: 8723 W Alden Drive SSB # 240 – Los Angeles, CA 90048
Phone: (310) 614-3071
Director of Clinical Genetics: Pedro Sanchez, MD
Special Note: Clinic sees Children and Adults
Sacramento, CA – 22q Healthy Minds Clinic at UC Davis MIND Institute
The 22q Healthy Minds Clinic at UC Davis was created in 2008 and has served over 100 patients to date. Healthcare professionals from the UC Davis Departments of Pediatrics provide services to 22q patients and their families while collaborating with the MIND Institute research program in chromosome 22q11.2 deletion syndrome to support their clinical work.
A Developmental Behavioral Pediatrician and a Licensed Clinical Psychologist (specializing in developmental neuropsychology) comprise the clinic’s professional staff. Clinical assessments are currently available on the 2nd Wednesday and 4th Monday of each month.
The clinic currently serves a broad age range of children and adolescents – from newborn to 14 years of age — diagnosed with chromosome 22q11.2 deletion syndrome and their families.
A typical visit to the center includes a four hour neuropsychological testing, consultation and feedback with the team. The 22q Healthy Minds Clinic @UC Davis provides expert evaluation of the brain, body and behavior of a child with 22q, along with recommendations for parents, caregivers and school.
Main Contact: June LaMarr Email: email@example.com
Address: 2825 50th St., Sacramento, CA 95817
Phone: (916) 703-0440
Cognitive Neuroscientist: Tony Simon, PhD
22q11.2 Multidisciplinary Program at Children’s Hospital Colorado
The 22q Multidisciplinary Program at Children’s Hospital Colorado is situated in a state of the art facility on the Anschutz Medical Campus in Aurora, Colorado, home of the largest academic health and research center in the Rocky Mountain region. Children’s Hospital Colorado is ranked No. 9 on the US News Best Children’s Honor Roll for 2018-2019 and is nationally ranked in 10 pediatric specialties.
Since their very first 22q clinic back in August 2010 they have had the pleasure of seeing over 250 patients with 22q11.2 deletion syndrome, prenatally thru age twenty-one. The clinic philosophy is that they are partners with parents and they walk beside them in their unique journey of 22q11.2, providing accurate and up to date information and providing expert treatment and services, thru all ages and stages so that their patients reach their highest potential. They take a comprehensive, coordinated approach to managing the syndrome, following management guidelines and drawing on an extensive range of pediatric services and specialists in areas such as genetics, cardiology, immunology, ENT, speech, OT, audiology, endocrinology, orthopedics, psychiatry, neuropsychology, child development and more.
In addition, their team of providers meets face to face every month to discuss patients prior to clinic to prepare for a fully individualized clinic visit so that they may have a better understanding of the WHOLE child they are seeing. Their clinic coordinator is a proud parent of a young adult with 22q and enjoys meeting and connecting families affected by 22q11.2. For more information, or to schedule an appointment please call Mindy Taylor @ 303-724-2589.
Address: 13123 East 16th Avenue – Aurora, CO 80045
Medical Director: Naomi Meeks, MD
Amanda Bawcom, MSN, RN,CPNP
Genetic Counselor: Sarah Stewart, CGC
Coordinator: Melinda Taylor
Schedule an appointment: (303) 724-2589
New Haven, CT – Yale School of Medicine Pediatric Specialty Center
Phone: (203) 785-2660
Plastic Surgeon: John Persing, MD
Endocrinologist: Stuart Weinzimer, MD
Genetics: Hui Zang, MD
Joe DiMaggio Children’s Hospital 22q Multidisciplinary Clinic
Medical Director: Francis Jeshira Reynoso Santos, MD
Genetic Counselor: Kim Glaser MS, CGC Email: firstname.lastname@example.org
Address: 1131 N 35th Ave, Second Floor – Hollywood, FL 33021
Specialties: Genetics, ENT, Endocrinology, Immunology, Speech Therapy
Special Note: Clinic meets the third Wednesday of each month
The Joe DiMaggio Children’s Hospital 22q Multidisciplinary Clinic was created in 2018 and has treated over 100 patients with 22q at JDCH and about 40 have been evaluated in their multidisciplinary clinic so far. The clinic sees patients from newborn through 21; they may be able to see older adults on a case-by-case basis.
The Multidisciplinary 22q Clinic at Joe DiMaggio Children’s Hospital was founded by board-certified medical geneticist Dr. Francis Jeshira (Jessie) Reynoso Santos in 2018. Dr. Reynoso completed her genetics training at the Children’s Hospital of Philadelphia where she trained at the 22q and You Center at CHOP. Upon moving to South Florida after graduation she realized that most patients with 22q received care that was very fragmented, thus along with Dr. Sweeti Sha (ENT) they set out on a mission to create a team of providers that were equally as passionate about providing coordinated medical care for children with 22q. Thus their 22q Dream Team was assembled: Dr. Sweeti Shah (ENT), Dr. Hanadys Ale (Immunology), Dr. Martha Taboada (Endocrinology), Kristen DeLuca (Speech Pathologist), Diana Acevedo (Speech Pathologist), Veronica Figallo (Nutrition) and Kim Glaser (Clinic coordinator/Genetic counselor). They also have several specialists in the community they refer their families out to in the other specialties. The clinic is currently working to add neuropsychology, cardiology, and orthopedics to the team.
Their clinic takes place on the third Wednesday afternoon of every month and typically they see 5 patients each clinic. The clinical coordinator will reach out to the family by phone to collect basic information so they can obtain appropriate medical records before the appointment. They will confirm they accept the insurance and let the family know if any referrals are needed (which they will work to obtain). On the day of the visit, the family arrives at noon and will remain in the same room for 3-4 hours while various medical specialists including genetics, ENT, endocrinology, immunology, speech pathology, and nutrition take turns coming to their room. The families are welcome to bring snacks, drinks, toys, games, or whatever they like to entertain their child/children during the long clinic visit. After the visit, they meet as a team to discuss each patient and write a summary letter of all of the recommendations, obtain any necessary authorizations, and provide requisitions for any screening, imaging, or referrals made from the clinic. They are always available to answer questions or help to coordinate additional care!
Since August 2018 JDCH 22q Multidisciplinary Clinic has been providing multidisciplinary care to families throughout South and Central Florida. They have participated in 22q at the Zoo in Boca Raton, FL and hope to grow the event next year through their network of families. Future goals for the clinic include creating an annual family symposium, spreading awareness so all medical practitioners are aware of 22q, and participating in ongoing clinical trials/research studies. A fun fact about our clinic is almost all of our providers are bilingual in English and Spanish! Also, due to their proximity to many of the Caribbean Islands and South America, through our Global Health program, we can provide multidisciplinary care to patients from these areas! If you are interested in visiting their clinic please don’t hesitate to contact them at 954-265-6319.
The JDCH 22q clinic recently worked with some of their local families to establish the first 22q South Florida Advisory Board to help get the word out about 22q to other medical professionals and future medical professionals in the community. They are working with local medical schools and will be lecturing the current medical students at Florida International University in August about 22q as well as doing Grand Rounds in our hospital system to teach all of our medical professionals about 22q deletion. They will also be present at their local Joe DiMaggio Children’s hospital yearly symposium for General Pediatricians in November of 2019 to teach them about 22q and the clinic.
Orlando, Florida – 22q11.2 Multidisciplinary Clinic Nemours Center for Cleft and Craniofacial Differences
Nemours Children’s Hospital – 6535 Nemours Parkway – Orlando, FL 32827 USA
Brittany Johnson, RN
Phone number: 407-567-3848
In April of 2019, the 22q multidisciplinary clinic at Nemours Children’s Hospital was established and received ACPA accreditation; they have since served about 10 – 15 patients with 22q11.2. Currently, their patients with 22q11.2 are seen within the cleft and craniofacial clinic, but within the next six months, they will be establishing a separate clinic for this patient population. This clinic will likely meet quarterly and plan to include several other specialty providers that are currently “separate from clinic.”
The clinic currently sees patients from birth through early adulthood, and can serve into adulthood depending on insurance provider. Kayla DeLong, RN is the patient coordinator and can be reached at 407-567-3279. She manages the clinic and ensures that all recommendations and referrals are completed, and the care plan moves forward as planned for the families.
The 22q11.2 multidisciplinary clinic at Nemours Children’s Hospital is dedicated to providing excellent care to patients and families with a 22q11.2 deletion or duplication diagnosis. Their comprehensive team of providers is there to guide and support your child as they grow. At Nemours, they understand the complexity of this diagnosis; the team consists of specialists in plastic and craniofacial surgery, speech-language pathology, pediatrics, orthodontics and dentistry, ENT, audiology, genetics, neurosurgery, social work, and psychology. The care you receive is tailored to the specific needs of your child and family, so they work with all departments within the hospital to provide the best care for your child. Whatever challenges may arise, they are with you every step of the way. Their motto – “Your child. Our promise”.
A typical visit consists of patient being brought to team visit, where they meet with all the relevant providers. The family is accompanied to a room, where they stay for their visit. The providers rotate in and complete their assessment. Their pediatrician currently manages the various referrals that the patient requires, according to the Bassett et al (2011) guidelines. The family is provided with 22q11.2 specific resources and information, as well as a care plan tailored to their child’s need. The patient care coordinator is the last person to see the family and she explains next steps and ensures that all upcoming appointments are completed.
After the clinic day, the team meets to talk about each patient they saw. For children with 22q11.2, the discussion focuses on coordination of appointments and what follow up they will need. They try to limit the number of medical visits the family will have, through coordinated planning. Several days later, their care coordinator compiles the evaluations from all the providers and creates a letter for the family with all the recommendations, which is mailed to the family and their primary care provider.
Miami, FL – Miami Children’s Hospital
Address: 3100 Southwest 62nd Avenue, – Miami, FL 33155
Phone: (305) 663-8595
Clinical Genetics: Mislen Bauer, MD
Atlanta, GA – 22q Clinic at Children’s Healthcare Atlanta
22q Center at Children’s Healthcare of Atlanta
Center for Advanced Pediatrics
Children’s Healthcare of Atlanta – 1400 Tullie Road, NE – Brookhaven, Georgia 30329, USA
Name: Lisa Kobrynski, MD
Phone: 404-785-5437 (KIDS)
The 22q Center at Children’s Healthcare of Atlanta is one of the nation’s largest for the diagnosis and treatment of 22q11.2 deletion syndrome (22q11DS). The team draws on expertise from a wide range of specialties to offer advanced, comprehensive care and follow up. The center was opened in 1995, and has seen over 800 patients, ranging in age from birth to twenty-two years old.
Children’s Healthcare of Atlanta is the 22q referral center for the Southeast USA and truly a multi-specialty clinic. During the clinic visit, patients are always seen by Immunology, Endocrinology, Gastroenterology and Genetics. If needed, patients can be seen on the same day by many of the sub-specialties below in the same clinic building, with parking underneath the facility, making your visit flow with ease. The Atlanta 22q Clinic collaborates with research projects in Psychiatry, Psychology, and the International 22q Consortium, as well as the Centers for Disease Control.
Specialties in the clinic include; Genetics, Cardiology, ENT (which includes craniofacial/cleft), Immunology, Endocrinology, Orthopedics, Occupational Therapy, Psychical Therapy, Speech Pathology, Dental, Hematology, Psychiatry, Neuropsychology, Developmental Pediatrics, Gastroenterology, Nutrition, Nephrology, Audiology, Ophthalmology, Pulmonary, Neurosurgery and Radiology.
A typical visit for patients and their families include an evaluation by Immunology, Endocrinology, G.I., and Genetics. On each visit, patients receive education on the syndrome. Lab and radiology, as needed, is performed on the same day. Summaries of the visit are sent back to a patient’s Primary Care Physician, along with recommendations for follow-up care and referrals.
Almost all of the school age children are referred to the Neuropsychology Department for evaluations and recommendations on which schools will be best suited for their learning needs, as well as assisting in constructing an Individualized Education Plan (IEP).
Karlene Coleman, RN, MN, CGC
Phone: (404) 290-6061 – Email: email@example.com
Special Note: Clinic meets 1x, 6 slots per month, on 2nd Tuesday
Chicago, IL -Ann & Robert H. Lurie Children’s Hospital of Chicago
Ann & Robert H. Lurie Children’s Hospital of Chicago
22q11.2 Deletion Syndrome Program
225 E. Chicago Avenue, Box 59
Chicago, IL 60611-2605
Main contact name:
Phone number: 312-227-6120
Visit website here.
Lurie Children’s 22q Deletion Center was the first of its kind in Illinois – the first multidisciplinary group of pediatric experts dedicated to providing comprehensive care for individuals with this condition. Their first patient was born in 1965. Their multidisciplinary clinic at Lurie Children’s began in the early 2000s.
The 22q Deletion Program at Lurie Children’s provides proactive, comprehensive, and holistic care for infants, children, and adolescents with 22q11.2 Deletion Syndrome with the goal of achieving the best quality of life for the patient and family in a manner consistent with their values.
The team is committed to research and quality improvement. Members of the team have published articles specifically as it relates to 22q Deletion Syndrome on topics pertaining to congenital heart disease, diagnosis and surgical treatment of velopharyngeal insufficiency, platelet function, and more. Members of the team have lectured on an array of related topics at the local and national levels.
They have served over 400 patients in the last 10 years. Many patients with 22q11.2 Deletion Syndrome are seen at Lurie Children’s outside of the multidisciplinary team setting as well. Patients at Lurie Children’s are able to see multiple providers from across multiple specialties all in one day. The program links the experience and expertise from several pediatric subspecialty areas including immunology, otolaryngology (Ear, Nose & Throat Surgery – ENT), speech & language pathology, audiology, genetics, cardiology, endocrinology, and social work.
Lurie Children’s has a separate subspecialty clinic for patients with a history of cardiac disease and NICU stay where they can see providers from cardiology, developmental peds, neuropsychology, physical therapy, occupational therapy, and social work.
When a patient is visiting the 22q11.2 Deletion Clinic for the first time at Lurie Children’s, they will have lab draws performed first. This is recommended first since some results can come back day of and provides more insight into the health of our patient. They will then have a unique schedule to see each of the assigned specialties. Every patient will meet with the Genetics team at some point during the clinic day. Depending on the patient’s clinical status and age, the patient will meet with the other appropriate specialties. The 22q deletion team will meet after the clinic and discuss an overall plan for each patient. The center currently serves patients from birth through early adulthood.
Lurie Children’s 22q patient story.
Oak Lawn, IL – 22q Diagnostic and Treatment Center at Advocate Children’s Hospital
Address: 4440 W. 95th St., Oak Lawn, IL 60453
Phone: (708) 684-2529
Co-Director: Lydia Jazmines, MD, Genetics
Co-Director: Javeed Akhter, MD, Pulmonology/Immunology
Genetic Counselor: Ellen Trotten, MS, CGC
Boston, MA – Massachusetts General Hospital New England Regional Center for 22q
Address: 1155 Fruit St., Boston, MA 02114
Phone: (617) 726-1561
Clinical Director: Paula C. Goldenberg, MD
Genetic Counselor: Punitha Kannan, MS, CGC
Rochester, MN – Pediatric and Adolescent Medicine in Minnesota
Address: 200 First Street SW – Rochester, MN 55905
Phone: (507) 284-2511
Minneapolis, MN – VCF Clinic of Children’s Hospitals and Clinics of Minnesota
Clinic Coordinator: Michelle Fendrich
Nursing Coordinator: Cheryl Salter, BSN, RN
Address: 2530 Chicago Ave S – Minneapolis, MN 55404
Phone: (612) 874-1292
Fax: (612) 813-6889
University of Minnesota 22q Clinic
Address: 515 Delaware Street SE – 6-296 Moos Health Sciences Tower – Minneapolis, MN 55455
Jackson, MS – 22q Deletion Syndrome Multidisciplinary Clinic
University of Mississippi Medical Center
Address: 2500 N State Street – Jackson, MS 39216
Medical Director: Kimberly Paduda, MD
Clinic Director: Andrew Gunter, MS
UMMC Gennetics Office: (601) 984-1900
Special Note: Meets once a month
Kansas City, MO – Children’s Mercy
The Super Q Express Clinic at Children’s Mercy Hospital
Children with 22q11.2 Deletion/Duplication syndrome have access to a team of expert clinicians, ongoing support, medical care and information at The Super Q Express Clinic at Children’s Mercy Hospital. We pride ourselves on providing comprehensive, long term, individualized diagnostic and management services in Cardiology, ENT/cleft palate, Endocrinology, Gastroenterology, Genetics, Immunology, Sleep and Speech. A social worker and medical coordinator are also present during visits to provide additional support.
A 22q nurse coordinator will assist scheduling your visit. A typical day will offer a family focused approach that allows the patient and family to remain in a single room with providers rotating in for visits. We have snacks and activities to occupy young minds. Any laboratory or other diagnostic services can be obtained in the same building after the visit. Our nurse coordinator will help with any follow up services that may be needed.
Additional medical services can be scheduled and coordinated at each visit. The Super Q Express Clinic is currently being offered on the first Wednesday of each month at Children’s Mercy Hospital Kansas and the second Friday of the month at Adele Hall.
The center was created in 2013 and has served over 250 patients. The clinic sees patients from newborn through the age of 20.
We have developed an adult transition pathway with the University of Kansas Hospital to assist patients and families transitions to adult care.
Requests for Consultation
Requests for consultation at the clinic can be made by a family doctor, pediatrician, or other specialist by contacting:
Pediatric Endocrinologist: Mathew Feldt, DO
Genetic Counselor: Susan Starling-Hughes, MS, CGC
Address: Children’s Mercy Hospital and Clinics – Gillham Rd., Kansas City, MO 64108, USA
Phone: (816) 234-3290 (Genetics)
Phone: (816) 960-8820 (Endocrinology)
Patterson, NJ – The Regional Craniofacial Center at St. Joseph’s Children’s Hospital
Pamela Martorana, LPC
For information or to schedule an appointment please call
703 Main St.
Paterson, NJ 07503
Bronx, NY – Montefiore-Einstein Regional Center for 22q11.2 Deletion Syndrome
1250 Waters Place, Tower Two (11th Floor)
Bronx, New York 10461
Phone: (718) 741-2323
The Montefiore-Einstein Regional Center for 22q11.2 was founded in 2017 by providers from the clinical genetics department at Montefiore, and researchers at Albert Einstein College of Medicine, who saw a need for a New York-based multidisciplinary center for patients affected by 22q11.2. Some of these researchers had been studying 22q for decades and yearned for a center where their research participants could access superior care. The clinical geneticists and genetic researchers worked hand-in-hand to establish the Center and they continue to collaborate to provide the best care possible. When patients are seen at the 22q Center, they become part of the Montefiore-Einstein 22q family. To date, they have served over 30 families and care for newborn babies through adulthood.
Specialists include genetics, psychiatry, immunology, endocrinology, and audiology/ENT work together to provide comprehensive care, all together in one location. If a patient needs to see someone outside of these specialties (i.e. cardiology, hematology, etc.), they expedite the process and connect them with a specialist within the desired field who is experienced with 22q. By having several specialists involved in a patient’s care, they can discuss their findings and thoughts with one another and provide patients and families with a combined plan of care. Patients also benefit from the convenience of having a “one stop shop!”
For a newly referred baby, the family first speaks with the clinic coordinator by phone to discuss the child’s history and any concerns. On their first clinic day, the family meets with one of their geneticists and a genetic counselor. The comprehensive appointment would address any questions and explain the child’s plan of care. The family also receives a new family folder; which includes information about the specialists the baby will be seeing, in addition to a list of resources and an article detailing the guidelines for management. The baby would likely see immunology and ENT if he/she did not have an outside immunologist/ENT. The 22q Center is held in a large medical building that includes a lab and radiology so if blood work or scans are required, they can usually take care of that on the same day, in the same location.
Montefiore-Einstein sponsors the annual 22q at the Zoo event at the Bronx Zoo and also hosts other free family-centered events throughout the year. These events give patients and families the opportunity to meet and create a support network. These events also allow patients and families to interact with professionals who are experts in their fields. There is free parking on site and access to local public transportation.
Syracuse, NY 22q Center
Family-Centered Interdisciplinary Care Services by Upstate Medical University and Syracuse Center
Upstate University Hospital
Medical Director Robert Roger Lebel, MD, FACMG
Clinical Director Eileen Marrinan, MS, MPH
Research Director Wendy Kates, PhD
Neuropsychological Evaluations Kevin Antshel, PhD
22q Language Evaluation Team Sue Ellen Mayfield, MS, CCC
For an appointment call 315-464-6580 or Email: firstname.lastname@example.org
Durham, NC – 22q11 Deletion Syndrome Clinic at Duke Children’s
Pediatric Medical Genetics Specialist: Vandana Shashi, MD
Genetic Conselor: Kelly Schoch, MS, CGC
300 Erwind Rd., Durham, NC 27705
Phone: (919) 681-2524
Cincinnati, OH – 22q – VCFS Center at Cincinnati Children’s Hospital Medical Center
Director of Clinical Genetics: Howard M. Saal, MD
Co-Director: Robert Hopkin, MD
Genetic Counselor: Bettsy Leech, MS, CGC
3333 Burnet Ave Cincinnati, OH 45229
Phone: (513) 803-1884
Columbus, OH – 22q Center at Nationwide Children’s Hospital
The 22q Center was created in 2011 at Nationwide Children’s Hospital. The center follows over 500 patients with 22q11.2 and serves patients of all ages (0-99), as we know many patients are diagnosed later in life.
The 22q Center at Nationwide Children’s Hospital is located in Columbus, OH. Nationwide Children’s Hospital is the largest Pediatric Hospital and Research Center in America, consistently ranked on U.S. News & World Report’s Best Children’s Hospital Honor Roll. Families travel from around the globe to access services from their comprehensive, coordinated, and compassionate team.
The 22q Center’s multidisciplinary team works together with families of children diagnosed with 22q11.2 deletion syndrome to provide diagnosis and early intervention services in order to optimize care and provide the best outcomes for every child.
The 22q Center team provides comprehensive individualized diagnostic and management services in Genetics, Cardiology, Plastic and Reconstructive Surgery, Speech and Language Pathology, Developmental Pediatrics, Social Work, Nursing, Immunology, Neuropsychology, Behavioral Health, Dentistry/Orthodontics, Audiology, Otolaryngology, Endocrinology, Gastroenterology, Hematology, Neurology, Orthopedics and Psychiatry. The 22q Center at Nationwide Children’s Hospital team is actively engaged in clinical research and quality improvement projects that aim to help professionals and families understand more about the 22q deletion and its impact on affected children. Their team of providers meets face to face monthly to discuss each child’s visit and individual care needs. The center hosts many educational opportunities for our families, including a biennial family conference, “A Healthy You and 22q”, an awareness walk, webinars, and Facebook Live events. If you would like to learn more about the 22q Center at Nationwide Children’s Hospital, or to schedule an appointment please call the 22q intake at 614-722-6448.
All new patients evaluated by the 22q Center team undergo thorough pre-visit screenings in order to prepare a comprehensive evaluation plan to address their individual needs. The Center’s staff coordinates each child’s appointments, allowing families to see all necessary specialists in just a few days. Their Welcome Center supports the unique needs of patients and families arriving from out-of-town, including housing, transportation, financial information and other resources. Once all clinical evaluations have been completed, the 22q Center team meets face-to-face in order to develop a coordinated plan of care for each patient. The 22q Center team follows the Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome and coordinates care based on each patient’s individual needs.
Visit the 22q Center at Nationwide Children’s Hospital’s Facebook page or webpage to learn more about their family conference “A Healthy You and 22q”. This conference is open to all 22q families.
Nationwide Children’s Hospital – 22q Center
Address: 700 Children’s Drive – Columbus, OH – 43205
Co-Director: Richard E. Kirschner, MD
Co-Director: Dr. Scott Hickey, MD, Pediatric Geneticist
Co-Director: Adriane Baylis, CCC-SLP
Main Contact: Amanda Smith
Phone: (614) 722-5821
Portland, OR – 22 Clinic at Child Development & Rehabilitation Center at Oregon Health & Science University
George Anadiotis, MD
Contact: Maureen Oliverio, CPNP and Rhiannon Orizaga
3181 SW Sam Jackson Park Rd., Portland, OR 97239
Phone: (503) 494-2069
Philadelphia, PA – The “22q and You” Center at The Children’s Hospital of Philadelphia
Main Contact: Donna McDonald-McGinn, MS, LCGC
Phone: (215) 590-2920
Address: 34th St. and Civic Center Blvd. – Philadelphia, PA 19104-4399
Director: Donna McDonald-McGinn, MS, LCGC
Medical Director: Elaine H. Zackai, MD
Scientific Director: Beverly S. Emanuel, PhD
The “22q and You Center” at the Children’s Hospital of Philadelphia (CHOP) is the world’s first and largest specialized multidisciplinary clinic dedicated to helping patients and families affected by chromosome 22q11.2 deletion and duplication syndromes. Our highly trained health care professionals, representing >20 medical and surgical subspecialties, provide expert collaborative and individualized services based on broad experience having evaluated and treated >1800 individuals over three decades, many of whom have traveled to CHOP from around the globe for experienced coordinated surgical, medical, and behavioral health care, genetic counseling, speech and language assessments/services, educational evaluations/resources, imaging, and psychosocial support. In addition, CHOP is a world leader in clinical and basic science research for patients with 22q11.2 deletion and duplication syndromes – striving to make impactful breakthroughs each and every day.
The Center currently serves patients from birth through early adulthood and has begun partnering with providers at their neighboring institution, The Hospital of the University of Pennsylvania, to establish an adult 22q clinic, which has begun facilitating a smooth transition to adult care for patients and families.
The Center is based in the Division of Human Genetics and is facilitated by a director, medical director, scientific director, program manager, clinical coordinator, schedulers, and social worker. Core experienced providers, who have become experts in their own right and generally evaluate and provide treatment for most patients include: Allergy, Cardiology, CT Surgery, Developmental Pediatrics, Endocrinology, ENT, Gastroenterology, Genetics, Genetic Counseling, Immunology, Neurology, Neuropsychology, Ophthalmology, Orthopaedics, Plastic Surgery, Psychiatry, Speech Pathology. Additional providers who evaluate and treat a subset of patients include: Audiology, Dental, the Feeding Team, General Pediatrics, General Surgery, Hematology, Internal Medicine, Nephrology, Pulmonary, OB/Gyn, Occupational Therapy, Oncology, Physical Therapy, Rheumatology, and Urology.
Based on individualized needs, patients may be evaluated by as many as 20 subspecialists across the hospital with specific expertise in this diagnosis. Appointments are coordinated by the center staff who strive to assure that no appointments or procedures are duplicated unnecessarily.
While half of the Center’s patients reside within 100 miles of CHOP, the clinic serves the national and international community as well, with families traveling to the 22q and You Center from across the United States, Canada, and beyond, including for example: Australia, Brazil, Bermuda, Democratic Republic of the Congo, Dominican Republic, Ecuador, England, France, Germany, Greece, Ireland, India, Israel, Italy, Jamaica, Japan, Latvia, Nigeria, Saudi Arabia, Ukraine, and Uruguay. For families traveling from a distance, the Center partners with each family to obtain outside medical records, perform a detailed intake over the phone to review the child’s medical and family history, navigate the complexities of out of state insurance coverage, schedule all recommended appointments over the course of as little time as possible, and assist the family in arranging transportation and lodging.
For patients new to the clinic, a visit to the 22q and You Center begins with an appointment in the 22q and You Center. The patient and family meet with the Center Director, Donna McDonald-McGinn, MS, LCGC and Center Medical Director, Elaine Zackai, MD. During this initial visit, a complete medical history and family history are reviewed, a physical exam is completed, and recommendations for other specialist appointments are made. Routine laboratory studies may be performed as indicated. The dedicated team of coordinators assists each family in the complex scheduling of these appointments, alleviating some of the burden of care coordination.
In addition to medical care, the Center strives to provide families with psychosocial support, as well as, educational resources including publications they have developed/participated in developing such as: 22q11.2 specific Growth Curves, Pediatric and Adult Healthcare Guidelines, Faces of Sunshine (a highly acclaimed handbook for families and providers), a family-centered periodic newsletter, and the Nature Reviews Primer. Moreover, the Center prides itself on being “all in” in developing and hosting multiple rhyming events at CHOP/collaboration with the International 22q11.2 Foundation, including the annual “22q and Boo” Halloween-themed party and educational conference; 22k for 22q, 2.2 for 22q, and 22q at the Zoo –Worldwide Awareness Day!
Finally, the Director of the 22q and You Center at CHOP, Donna McDonald-McGinn, MS, LCGC, is a proud founding board member of the International 22q11.2 Foundation, Inc. and the corollary professional organization, the 22q11.2 Society, where she leads amongst many other things, a biennial international 22q11.2 educational conference. Prof. McDonald-McGinn can be reached at email@example.com
Lewisburg, PA – 22q Developmental Clinic at Geisinger’s Autism & Developmental Medicine Institute (ADM)
Associate Director & Clinical Investigator: Brenda Finucane, MS
Contact: Barbara Haas Givier
120 Hamm Dr., Lewisburg, PA 17837
Phone: (570) 522-6287
Dallas, TX – Children’s Medical Center
Address: 1935 Medical District Dr., Dallas, TX 75235
Phone: (214) 456-2357
Salt Lake City, UT – University of Utah
John Carey, MD MPH
Genetic Conselor: Janice Palumbos, MS, CGC
Address: The University of Utah – 100 Mario Capecchi Drive – Salt Lake City, UT 84113
Phone: (801) 213-3599
Seattle, WA – 22q Clinic at Seattle Children’s Hospital
Address: 4800 Sand Point Way NE – Seattle, WA 98105
Phone: (206) 987-2208
Pediatrician: Emily Galliger, MD
Genetics: Tara Wenger, MD
Special Note: Meets 2nd Friday of each month
Washington, DC – Children’s National Medical Center
Address: 111 Michigan Ave NW, Washington, DC 20010
Phone: (202) 476-6287
Medical Director: Eyby Leon, MD
Genetic Counselor: Jullianne Diaz MS, CGC – Email:firstname.lastname@example.org
Specialties: Genetics, ENT, Cardiology, Endocrinology, Immunology, Plastic Surgery, Audiology, Psychology
At the International 22q11.2 Foundation we help families that need important resources and information to meet the needs of loved ones with 22q.