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Genetic Counseling Services

What are Genetic Counseling Services?

Genetic Counseling Services identify individuals and families who may have or be at risk to have a genetic condition. Services are focused on providing early intervention, education, diagnosis, and treatment if possible. Genetic counselors from the Children and Youth Branch routinely provide consultation to health care providers on many genetic issues.

Genetic services are available at five medical centers and one community hospital in NC for any infant, child, or adult suspected of having a genetic condition. This also includes services for pregnant women that are at an increased risk to have a baby with birth defects. Individuals with limited access to medical centers can receive genetic services through regional satellite genetic clinics located statewide.

Regional genetic counselors are located in Wilmington, Greenville, Charlotte, and Asheville. They can assist with:

  • referral to genetic evaluations
  • genetic counseling
  • genetic educational materials
  • assistance locating support groups (for specific genetic conditions)

Additional (Resources) Information

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Newborn Screening Informational Resources for Families

General Fact Sheets about Newborn Screening

Newborn Screening Resources in North Carolina

Information about Newborn Screening Conditions

Parents and families can access information about newborn screening disorders at March of Dimes: Newborn Screening.

Disorders include: Organic Acid Metabolism Disorders (babies with these problems don’t metabolize food correctly), Fatty Acid Oxidation Disorders (babies with these problems can’t change fat into energy), Amino Acid Metabolism Disorders (babies with these problems can’t process amino acids in the body), Hemoglobin Disorders (disorders that affect red blood cells in the body, and other disorders).

Newborn Screening Informational Resources for Providers

Newborn Screening Resources in North Carolina

Health care providers can access The American College of Medical Genetics and Genomics (ACMG) ACT Sheets for each of the disorders listed below. The ACMG ACT sheets and their accompanying algorithms are great resources for clinicians looking for information on genetic conditions (identified through newborn screening and other screenings) to help inform clinical decision making.

Amino Acid Metabolism Disorders

Organic Acid Metabolism Disorders

Fatty Acid Oxidation Disorders

Hemoglobin Disorders

Other Disorders

Educational Resources for Common Genetic Conditions for Teachers, Educators and Families

Listed below in alphabetical order are the names of common genetic conditions and links to educational information for teachers, educators and families.

Down Syndrome (DS)

Down syndrome (DS) or Down's syndrome, is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance and weak muscle tone in infants.

National Down Syndrome Society

Fragile X Syndrome (FXS)

Fragile X syndrome (FXS) is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment.

National Fragile X Foundation

Neurofibromatosis

Neurofibromatosis type 1 is a condition characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in the skin, brain, and other parts of the body. Neurofibromatosis type 2 is a disorder characterized by the growth of noncancerous tumors in the nervous system. All are genetic conditions that cause tumors to form on nerves.

Children’s Tumor Foundation

Prader Willi Syndrome (PWS)

Prader-Willi syndrome (PWS) is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. Some people with Prader-Willi syndrome, particularly those with obesity, also develop type 2 diabetes mellitus.

Prader-Willi Syndrome Association

Syndromes with Nonverbal Learning Disability (NLD or NVLD)

A nonverbal learning disorder or nonverbal learning disability (NLD or NVLD) is a neurological disorder characterized by a significant discrepancy between higher verbal skills and lower motor, and by visuospatial skills on an IQ test.

Learning Disabilities Association of America

Turner Syndrome (TS)

Turner syndrome is a chromosomal condition that affects development in females. The most common feature of Turner syndrome is short stature, which becomes evident by about age five.

Website for Educators about Turner Syndrome

Williams Syndrome (WS)

Williams syndrome (WS) is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features and heart and blood vessel (cardiovascular) problems.

Williams Syndrome Association

22q11.2 Deletion Syndrome

22q11.2 deletion syndrome is a chromosome micro deletion condition in which a small piece of chromosome 22 is missing. It causes over 120 different possible symptoms, including normal intelligence to moderate intellectual disability. People with 22q11.2 deletion syndrome often experience recurrent infections caused by problems with the immune system and some develop autoimmune disorders such as rheumatoid arthritis and Graves disease, in which the immune system attacks the body's own tissues and organs. Affected individuals may also have breathing problems, kidney abnormalities, low levels of calcium in the blood (which can result in seizures), a decrease in blood platelets (thrombocytopenia), significant feeding difficulties, gastrointestinal problems, hearing loss and varying behavioral and psychiatric disorders.

22q Family Foundation

Management Guidelines for Common Genetic Syndromes for Teachers, Educators, and Health Care Providers

Listed below in alphabetical order are the names of some of the more common genetic conditions and syndromes. Links to medical management guidelines and other syndrome specific resources are listed under each name, which may be helpful for educators, teachers, and health care providers.

Achondroplasia (ACH)

Achondroplasia (ACH) is a form of short-limbed dwarfism. All people with achondroplasia have short stature.

Health Supervision Guidelines for Children with Achondroplasia

Cystic Fibrosis (CF)

Cystic fibrosis (CF) is an inherited disease characterized by the buildup of thick, sticky mucus that can damage many of the body’s organs in the respiratory and digestive systems.

Cystic Fibrosis Foundation Evidence-Based Guidelines for Management of Infants with Cystic Fibrosis

Down Syndrome (DS)

Down syndrome (DS) or Down's syndrome, is a chromosomal condition that is associated with cognitive impairment, a characteristic facial appearance and weak muscle tone in infants.

Health Supervision Guidelines for Children with Down Syndrome

Duchenne Muscular Dystrophy (DMD)

Duchenne muscular dystrophy (DMD) is a genetic condition characterized by progressive muscle weakness and wasting (atrophy). In boys with Duchenne muscular dystrophy, muscle weakness tends to appear in early childhood and worsens rapidly. Affected children may have delayed motor skills, such as sitting, standing, and walking.

Standards of care for Duchenne Muscular Dystrophy Brief TREAT-NMD Recommendations

Ehlers-Danlos Syndrome (EDS)

Ehlers-Danlos syndrome (EDS) is a group of disorders that affect connective tissues, which are tissues that support the skin, bones, blood vessels and other organs. Many people with Ehlers-Danlos syndrome have soft, velvety skin that is highly elastic (stretchy) and fragile. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring.

Ehlers-Danlos Medical Guide

Fragile X Syndrome (FXS)

Fragile X syndrome (FXS) is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment.

Health Supervision Guidelines for Children with Fragile X Syndrome

Marfan Syndrome

Marfan syndrome is a hereditary disorder that affects the connective tissue in many parts of the body. The two primary features of Marfan syndrome are vision problems caused by a dislocated lens (ectopia lentis) in one or both eyes and defects in the large blood vessel that distributes blood from the heart to the rest of the body (the aorta).

Health Supervision Guidelines for Children with Marfan Syndrome

Neurofibromatosis (NF Type 1 [NF1], and NF Type 2 [NF2])

Neurofibromatosis type 1 is a condition characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in the skin, brain, and other parts of the body. Neurofibromatosis type 2 is a disorder characterized by the growth of noncancerous tumors in the nervous system. All are genetic conditions that cause tumors to form on nerves.

Health Supervision Guidelines for Children with Neurofibromatosis

Prader Willi Syndrome (PWS)

Prader-Willi syndrome (PWS) is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. Some people with Prader-Willi syndrome, particularly those with obesity, also develop type 2 diabetes mellitus.

Health Supervision for Children with Prader-Willi syndrome

Sickle Cell Disease (SCD)

Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. People with this disorder have atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent shape.

Evidence-Based Management of Sickle Cell Disease: Expert Panel Report, 2014

Syndromes with Nonverbal Learning Disability (NLD or NVLD)

A nonverbal learning disorder or nonverbal learning disability (NLD or NVLD) is a neurological disorder characterized by a significant discrepancy between higher verbal skills and lower motor, and by visuo-spatial skills on an IQ test.

Learning Disabilities, Dyslexia, and Vision (AAP Technical Report and Policy Statement)

Turner Syndrome

Turner syndrome is a chromosomal condition that affects development in females. The most common feature of Turner syndrome is short stature, which becomes evident by about age five.

Turner Syndrome: Diagnosis and Management

Williams Syndrome (WS)

Williams syndrome (WS) is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features and heart and blood vessel (cardiovascular) problems.

Health Care Supervision for Children with Williams Syndrome

22q11.2 Deletion Syndrome

22q11.2 deletion syndrome is a chromosome micro deletion condition in which a small piece of chromosome 22 is missing. It causes over 120 different possible symptoms, including normal intelligence to moderate intellectual disability. People with 22q11.2 deletion syndrome often experience recurrent infections caused by problems with the immune system and some develop autoimmune disorders such as rheumatoid arthritis and Graves disease, in which the immune system attacks the body's own tissues and organs. Affected individuals may also have breathing problems, kidney abnormalities, low levels of calcium in the blood (which can result in seizures), a decrease in blood platelets (thrombocytopenia), significant feeding difficulties, gastrointestinal problems, hearing loss and varying behavioral and psychiatric disorders.

Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

Camps for Children with Special Health Care Needs (CSHCN)

  • Scholarships are offered at some camps. For the most current camp information, please consult the camp's website or contact person.
  • The camp information provided below is intended only as a resource list for families; it is not an endorsement by the Division of Public Health.

Camps for Children with Developmental Disabilities

Camp Lakey Gap (June and July)

  • Location: Black Mountain, N.C.
  • Contact: Heather Hill, Camp Director, camplakeygap@gmail.com
  • Participants: children, adolescents, and young adults ages four to 18+ years old with Autism Spectrum Disorder, Asperger’s Syndrome, Cerebral palsy

Camp Royall (June, July, August)

  • Location: near Pittsboro, N.C.
  • Contact: Lesley Fraser, Camp Royall Program Director, (919) 542-1033 or lfraser@autismsociety-nc.org
  • Participants: children, youth, and young adults ages four to 19 years old with Autism Spectrum Disorder

SOAR-NC (May, June, July, August)

  • Location: Balsam, N.C.
  • Participants: youth eight to 18 years of age who have ADD, ADHD, and/or Learning Disabilities

Talisman Camp (June, July, August)

  • Location: Zirconia, N.C.
  • Contact: Robiyn Mims, Admissions Director, (828) 697-6313
  • Participants: young people ages six to 22 years old with autism spectrum disorders, ADHD, and other learning disabilities

Camps for Children with Chronic Medical Conditions

Camp Carefree (June and July)

  • Location: Stokesdale, N.C.
  • Contact: Program Directors, Tony McCallum and Leah Sell-Goodhand, at carefreedirectors@gmail.com
  • Participants: campers ages six to 16 with chronic illnesses (cancer, Spina Bifida, neurologic disorders, Hemophilia, blood disorders, von Willebrand, and Turner syndrome), and well children with chronically ill parent, well children with chronically ill sibling

Camp Hope (June)

  • Location: at Camp Don-Lee on the Neuse River near Arapahoe, N.C.
  • Contact: Rainbow Services Director, Jacquelyn Sauls at Saulsj@ecu.edu
  • Participants: children with Sickle Cell Disease

Camp Kaleidoscope (July)

  • Location: at Camp Graham on Kerr Lake in N.C.
  • Contact:  Bill Taub, Director, (919) 681-5349, arthur.taub@duke.edu
  • Participants: children ages seven to 16 years old with serious illnesses treated at Duke

Camp Rainbow (June)

  • Location: at Camp Don-Lee on the Neuse River near Arapahoe, N.C.
  • Contact: Rainbow Services Director, Jacquelyn Sauls at Saulsj@ecu.edu
  • Participants: children with cancer or hemophilia and their siblings

Camp Victory Junction (March-November)

  • Location: Randleman, N.C.
  • Participants: children six to 16 years of age, who have chronic medical conditions or serious illnesses (craniofacial anomalies, genetic disorders, cerebral palsy, GI disorders, heart disease, Immunologic disorders, kidney disease, lung disease, neurologic disorders, physical disabilities, sickle cell disease, skin disorders, spina bifida) and their siblings

Camps for Deaf or Hard-of-Hearing Children

Camp Cheerio (May)

Camp Dogwood (September)

  • Location: Sherrills Ford, N.C.
  • Contact:  Camp Director, Susan King at susan@nclionsinc.org or 1-800-662-7401, ext. 230
  • Participants: Deaf-blind adults and teens (ages 14-19)

Camp Woodbine (October)

  • Location: Raleigh, N.C.
  • Participants: hearing impaired children age three and above and their families

Sertoma Deaf Camp (June)

  • Location: Ellerbe, N.C.
  • Contact:  Camp Registrar, Sandy Waterman and/or Camp Program Coordinator, Stef Gardiner-Walsh, at sertomadeafcamp@gmail.com
  • Participants: children ages eight to 16 who are deaf or hard of hearing

Surf Camp (July)

  • Location: Wilmington, N.C.
  • Contact:  Jack Viorel, Director of Surf Camps and Surf Lessons, at jack@indojaxsurfschool.com
  • Participants: children with hearing loss

CARE Project Retreats (June-November)

  • Location: Bald Head Island, N.C. and Parkton, N.C.
  • Contact:  Johnnie Sexton, Founder and Executive Director, johnnie@thecareproject.com (919) 606-4651
  • Participants: Family Retreat (November), Teen/Tween Retreat (October), Latino Retreat (May) for children with hearing loss and their families and Latino Retreat for those who are Spanish speaking

Deaf Immersion Camp (June)

  • Location: Eastern North Carolina School for the Deaf, Wilson, N.C.
  • Contact: Debra Pierce at (252) 237-2450 ext. 232 or debra.pierce@esdb.nc.gov
  • Participants: rising 6th to rising 12th grade deaf students who use American Sign Language (ASL)

Links to Out-Of-State Camps

South Carolina Summer Camps

Camp Ability (June)

  • Location: Charleston, S.C.
  • Contact: Tron Severe, at  tron@healingfarms.com or (843) 971-9300
  • Participants: individuals with intellectual disabilities ages 17 to 26

Camp Burnt Gin

  • Location: Wedgefield, S.C.
  • Contact: Camp Director, Ms. Marie Aimone at aimonemi@dhec.sc.gov or (803) 898-0455
  • Participants: children and young adults ages seven to 25 who have physical disabilities and chronic illnesses

Therapeutic Summer Camp (June-July)

  • Location: Mount Pleasant, S.C.
  • Contact:  Jessica Jones at  jessica.jones@pattisonsacademy.org or (843)556-1070
  • Participants: children ages five to18 years old who have multiple and/or severe disabilities: physical impairments, visual, hearing, cognitive impairments

Camp Sunshine (June-July)

  • Location: Columbia, S.C.
  • Contact: Andrew Scott, at andrew@rcrc.state.sc.us  or (803) 754-6720 ext. 203
  • Participants: individuals who live with intellectual, physical, and developmental disabilities, ages five to 26

Tennessee Summer Camps

Aerie Camps (February-July)

  • Location: Georgia, North Carolina and Tennessee
  • Contact: Matthew Weneta, at mdweneta@aerieexperiences.com or (404) 285-0467
  • Participants: children, ages eight to 17, diagnosed with Neurobiological Disorders, Aspergers, Learning Disabilities, Nonverbal Learning Disabilities, High Functioning Autism, Pervasive Developmental Delays and/or ADHD

Camp Discovery

  • Location: Cordell Hull Lake in Gainesville, Tenn.
  • Contact: Booking Office, at booking@jayceecamp.org or (931)704-0394
  • Participants: people with disabilities and special needs between seven and 90 years of age

Easter Seals Tennessee Camp (Year-Round)

  • Location: Camp Widjiwagan and locations across Tenn.
  • Contact: Camp Office, (615) 292-6640
  • Participants: children, youth, and young adults with intellectual and developmental disabilities

Paradise Ranch (March, May, September)

  • Location: Springfield, Tenn.
  • Contact: (615) 382-5616
  • Participants: children and young adults with intellectual and developmental disabilities

Virginia Summer Camps

Camp Easter Seals UCP (April-August)

  • Location: New Castle, Va.
  • Contact:  Elizabeth Fletcher, at Elizabeth.Fletcher@DBVI.virginia.gov  or (804) 371-3121
  • Participants: children and young adults ages seven to 22 with mild to severe developmental or intellectual disabilities (with or without physical disabilities)

Camp Baker Services (June-August)

  • Location: near Pocahontas State Park in Southern Chesterfield County, Va.
  • Contact: CampBaker@RichmondARC.org  or (804) 748-4789
  • Participants: children ages six through adult with intellectual and developmental disabilities

Camp Virginia Jaycee (June and July)

  • Location: Blue Ridge, Va.
  • Contact:  info@campvajc.org
  • Participants: children and adults with intellectual and developmental disabilities

Who is Eligible?

Any individual with a potential genetic disorder is eligible for services. Families who meet the financial eligibility scale for CSHS are not billed for services if services are covered under the genetics contracts.

How to apply?

Call us for details.

Contact

For more information about this service contact:

  • Children and Youth Branch, 919-707-5600