Discover vital resources and support networks for Velo-Cardio-Facial Syndrome (VCFS) to better understand, manage, and cope with this rare genetic condition, empowering you or your loved ones to lead fuller, more informed lives.
Velo-Cardio-Facial Syndrome (VCFS), also known as 22q11.2 deletion syndrome, is a complex genetic disorder affecting approximately 1 in 2,000 to 4,000 individuals. This condition impacts multiple body systems, including the heart, palate, face, and immune system, and can lead to developmental delays and learning difficulties. Given its wide-ranging effects, individuals with VCFS and their families often face numerous challenges in managing the condition and navigating daily life.
Understanding and accessing support options, services, and resources for VCFS is crucial for patients, family members, and caregivers. These resources can provide valuable information about the syndrome, its management, and available treatments. They also offer emotional support, connect individuals with similar experiences, and help families navigate the complex healthcare and educational systems. Additionally, accessing appropriate services can significantly improve the quality of life for those affected by VCFS, enhancing their ability to reach their full potential.
As awareness of VCFS grows, so does the availability of specialized support and resources. However, many families still struggle to find comprehensive information and appropriate services. Therefore, it is essential to highlight the importance of learning about and utilizing these support options to ensure the best possible outcomes for individuals with VCFS and their families.
Velo-Cardio-Facial Syndrome Fact Sheets: Key Information About the Disease
The following fact sheets provide essential information about Velo-Cardio-Facial Syndrome (VCFS), also known as 22q11.2 deletion syndrome:
MedlinePlus Genetics: 22q11.2 deletion syndrome – This comprehensive fact sheet offers detailed information on the genetic causes, symptoms, and prevalence of VCFS.
RareChromo.org: 22q11.2 deletion syndrome (Velo-Cardio-Facial Syndrome) – This PDF document provides an in-depth overview of VCFS, including its genetic basis, clinical features, and management strategies.
Birth Defects Research for Children: DiGeorge Syndrome (DGS) Fact Sheet – This fact sheet offers information on DiGeorge Syndrome, which is closely related to VCFS, covering its causes, symptoms, and treatment options.
These fact sheets provide valuable resources for patients, families, and healthcare providers seeking to understand the various aspects of Velo-Cardio-Facial Syndrome and its management.
Advocating for Velo-Cardio-Facial Syndrome: A List of Patient Advocacy Groups
22q Family Foundation – This organization provides support, education, and resources for individuals and families affected by 22q11.2 deletion syndrome (VCFS). They offer webinars, conferences, and a network of support groups across the United States.
International 22q11.2 Foundation – Based in the United States, this foundation aims to improve the quality of life for individuals affected by 22q11.2 deletion syndrome through family and professional partnerships. They provide educational resources, research updates, and support services.
22q Central – A non-profit organization promoting awareness and education about 22q11.2 deletion syndrome. They offer a community forum, educational materials, and resources for families and professionals.
Mission 22q – This organization is dedicated to educating, supporting, and empowering individuals, families, and communities affected by 22q deletion syndrome. They provide resources, organize events, and raise awareness about the condition.
The Virtual Center for Velo-Cardio-Facial Syndrome – An internet-based charitable organization that provides personalized information to people affected by VCFS. They offer expert advice and research updates at no cost to users.
Finding Support: A Directory of Velo-Cardio-Facial Syndrome Support Groups
22q11.2 Society – This organization provides a platform for individuals with 22q11.2 deletion syndrome and their families to connect, share experiences, and access resources. They offer support groups, educational materials, and advocacy initiatives.
22q and You Center – Based at Children’s Hospital of Philadelphia, this center offers comprehensive care and support for individuals with 22q11.2 deletion syndrome. They provide educational resources, family support services, and coordinate multidisciplinary care.
22q Ohio Valley – This regional support group serves families affected by 22q11.2 deletion syndrome in Ohio, Kentucky, and Indiana. They organize local events, provide educational resources, and facilitate connections between families.
22q Texas – A support group dedicated to connecting and supporting individuals and families affected by 22q11.2 deletion syndrome in Texas. They offer resources, organize meetups, and raise awareness about the condition.
22q Alabama – This non-profit organization supports individuals and families in Alabama affected by 22q11.2 deletion syndrome. They provide educational resources, organize support meetings, and promote awareness of the condition.
Connecting with Others: Online Forums and Discussion Boards for Velo-Cardio-Facial Syndrome Patients
22q Family Foundation Forum – This forum provides a platform for individuals and families affected by 22q11.2 deletion syndrome to connect, share experiences, and seek advice from others in similar situations.
22q Central Community Forum – An online community where members can discuss various aspects of living with 22q11.2 deletion syndrome, including medical, educational, and social challenges.
VCFS Educational Foundation Discussion Board – This discussion board offers a space for patients, families, and professionals to exchange information and support related to Velo-Cardio-Facial Syndrome.
22q and You Center Facebook Group – A closed Facebook group managed by the 22q and You Center at Children’s Hospital of Philadelphia, providing a space for families to connect and share information.
22q11.2 Society Online Community – This online community offers a secure environment for individuals with 22q11.2 deletion syndrome and their families to connect, share experiences, and access resources.
Participating in Research: Current Velo-Cardio-Facial Syndrome Clinical Trials
Stanford Medicine Center for Definitive and Curative Medicine – The 22q11.2 Deletion Syndrome Consortium at Stanford is conducting pioneering research into immune dysfunction in 22q11DS patients, focusing on the role of the thymus in producing T cells for immune response.
Nationwide Children’s Hospital 22q Center – This center is actively engaged in clinical research aimed at understanding more about 22q deletion syndrome and its impact on affected children, including studies on velopharyngeal structures and muscles related to speech and hearing dysfunction.
Children’s Hospital of Philadelphia 22q and You Center – The center conducts various research studies on 22q11.2 deletion syndrome, including investigations into neurodevelopment, brain structure and function, and potential treatments for associated conditions.
Emory University School of Medicine 22q Clinical Research Center – This center focuses on research to improve understanding of the medical and developmental issues associated with 22q11.2 deletion syndrome, offering opportunities for patients to participate in various studies.
UC Davis MIND Institute 22q11.2 Research Program – The program conducts research on various aspects of 22q11.2 deletion syndrome, including cognitive development, brain structure and function, and potential interventions to improve outcomes for affected individuals.
Managing Costs: Financial Assistance for Velo-Cardio-Facial Syndrome Patients
National Organization for Rare Disorders (NORD) – NORD offers a RareCare program that provides financial assistance to patients with rare diseases, including Velo-Cardio-Facial Syndrome, for medication, insurance premiums, diagnostic testing, and travel for clinical trials or specialist consultations.
22q Family Foundation – This organization provides financial assistance to individuals and families affected by 22q11.2 deletion syndrome (VCFS) through their Family Assistance Grant Program, which can help cover medical expenses, therapies, and adaptive equipment.
Shriners Children’s – Shriners Children’s offers financial assistance programs, including Charity Care and Shrine Assistance, which can help cover the costs of medical care for children with various conditions, including Velo-Cardio-Facial Syndrome.
Mission 22q – This organization provides financial assistance to families affected by 22q deletion syndrome through their Family Assistance Program, which can help with medical expenses, therapies, and educational resources.
Traditional Treatments: Conventional Medicine for Velo-Cardio-Facial Syndrome
The 22Q-Velocardiofacial Syndrome Center at Cincinnati Children’s – This center offers state-of-the-art medical treatment and interventions for patients with 22q11.2 deletion syndrome, including comprehensive protocols addressing healthcare management, school readiness, and mental health concerns.
22q and You Center at Children’s Hospital of Philadelphia – This internationally recognized center provides extensive diagnostic and genetic testing, as well as coordinated care for various medical issues associated with 22q11.2 deletion syndrome, including heart defects, cleft palate, and immune problems.
Stanford Medicine Center for Definitive and Curative Medicine – The 22q11.2 Deletion Syndrome Consortium at Stanford offers cutting-edge treatments and research, particularly focusing on immune dysfunction and thymus-related issues in patients with 22q11.2 deletion syndrome.
Nationwide Children’s Hospital 22q Center – This center provides comprehensive care for children with 22q11.2 deletion syndrome, offering treatments for various associated conditions, including cardiac anomalies, speech and hearing dysfunction, and developmental issues.
UC Davis MIND Institute 22q11.2 Research Program – While primarily a research program, this institute also offers clinical care and interventions for individuals with 22q11.2 deletion syndrome, focusing on cognitive development and potential treatments to improve outcomes.
Supporting Loved Ones: Resources for Velo-Cardio-Facial Syndrome Families and Caregivers
22q Family Foundation – This organization provides comprehensive resources for families and caregivers, including educational materials, support groups, and connections to medical professionals specializing in 22q11.2 deletion syndrome.
22q Central – Offers a wealth of information and support for families and caregivers, including educational resources, a community forum, and updates on the latest research and treatments for 22q11.2 deletion syndrome.
VCFS Texas – Provides support and resources to individuals with Velo-Cardio-Facial-Syndrome (VCFS) / 22q11.2, their families, and caregivers in Texas, offering local support groups and educational events.
22q Alabama – Offers support and resources for individuals and families affected by 22q11.2 deletion syndrome in Alabama, including educational materials and local support group meetings.
The Virtual Center for Velo-Cardio-Facial Syndrome – Provides personalized information and expert advice to families and caregivers of individuals with VCFS, offering a range of educational resources and support services.
Navigating Velo-Cardio-Facial Syndrome in School: Resources for Students
22q and You Center Educational Resources – The Children’s Hospital of Philadelphia provides educational resources specifically tailored for students with 22q11.2 deletion syndrome, including information on learning differences and strategies for academic success.
The International 22q11.2 Foundation Educational Resources – This foundation offers a variety of educational materials and resources to help students with 22q11.2 deletion syndrome navigate their academic journey, including information on individualized education plans (IEPs) and accommodations.
22q Family Foundation School Resources – This organization provides comprehensive resources for students with 22q11.2 deletion syndrome, including guidance on working with schools, understanding special education rights, and strategies for academic success.
VCFS Educational Foundation School Resources – The VCFS Educational Foundation offers resources specifically designed to help students with Velo-Cardio-Facial Syndrome succeed in school, including information on learning challenges and educational interventions.
Raising a Child with Velo-Cardio-Facial Syndrome: Guidance and Support
22q Family Foundation – This organization provides comprehensive resources for parents raising children with 22q11.2 deletion syndrome, including educational materials, support groups, and connections to medical professionals.
22q and You Center – The Children’s Hospital of Philadelphia offers a wealth of family resources, including guidance on parenting children with 22q11.2 deletion syndrome, educational materials, and support services.
22q Central – This organization provides a range of resources for parents, including information on managing various aspects of 22q11.2 deletion syndrome, educational strategies, and support networks.
VCFS Texas – Offers support and resources specifically for parents in Texas raising children with Velo-Cardio-Facial Syndrome, including local support groups and educational events.
22q Alabama – Provides guidance and support for parents in Alabama raising children with 22q11.2 deletion syndrome, offering educational materials and local support group meetings.
Frequently Asked Questions about Velo-Cardio-Facial Syndrome
What is Velo-Cardio-Facial Syndrome (VCFS)?
Velo-Cardio-Facial Syndrome, also known as 22q11.2 deletion syndrome or DiGeorge syndrome, is a genetic disorder caused by a deletion in chromosome 22. It can cause a wide range of health and developmental issues, including heart defects, palate abnormalities, immune system problems, and learning disabilities.
What are the most common features of VCFS?
The four most common features of VCFS are developmental delays, cardiac anomalies, palatal anomalies, and immune deficiency. Other common characteristics include a long narrow face, tubular nose, thin palpebral fissures, and a small mouth.
How is VCFS diagnosed?
VCFS is typically diagnosed through a combination of clinical examination and genetic testing. A special blood test called FISH (fluorescence in situ hybridization) is used to look for the deletion in chromosome 22q11.2. In some cases, more sophisticated lab studies may be required.
Is VCFS inherited?
In most cases (about 93%), VCFS occurs as a new mutation in the child, with neither parent having the deletion. However, once a person has the deletion, they have a 50% chance of passing it on to their children.
What types of medical problems are associated with VCFS?
VCFS can cause a variety of medical issues, including heart defects, palate abnormalities, immune system problems, low calcium levels, kidney differences, and neurological issues. The severity and combination of these problems can vary widely between individuals.
How is VCFS treated?
Treatment for VCFS is based on the specific symptoms present in each individual. This may include heart surgery, calcium supplements, speech therapy, and early intervention for developmental delays. A multidisciplinary team of specialists is often involved in managing care.
What is the long-term outlook for individuals with VCFS?
The long-term outlook varies depending on the severity of symptoms. Many individuals with VCFS can lead productive lives with appropriate medical care and support. However, they may face ongoing challenges with learning, social interaction, and mental health.
Are there any specific learning challenges associated with VCFS?
Yes, about 90% of individuals with VCFS experience learning problems. Many have a non-verbal learning disability, where verbal IQ scores are significantly higher than performance IQ scores. This can lead to strengths in reading and memorization but difficulties with math and abstract reasoning.
Is there an increased risk of mental health issues in individuals with VCFS?
Yes, individuals with VCFS have an increased risk of developing mental health conditions, particularly as adults. These can include depression, anxiety, and schizophrenia. About 25% of individuals with VCFS may develop schizophrenia or schizoaffective disorder.
Are there support groups available for individuals and families affected by VCFS?
Yes, there are several organizations that provide support and resources for those affected by VCFS. These include the 22q Family Foundation, the International 22q11.2 Foundation, and the VCFS Educational Foundation. These groups offer educational materials, support networks, and information on the latest research and treatments.
Hope for the Future: Current Research and Potential Cures for Velo-Cardio-Facial Syndrome
Stanford Medicine Center for Definitive and Curative Medicine – This center conducts pioneering research into immune dysfunction in 22q11.2 deletion syndrome patients, focusing on the role of the thymus in producing T cells for immune response and exploring potential curative therapies.
GW School of Medicine and Health Sciences 22q Research – Researchers at George Washington University are investigating the causes of pediatric dysphagia in 22q11.2 deletion syndrome, aiming to identify new targets for effective therapy and prevention.
22q and You Center Research – The Children’s Hospital of Philadelphia conducts various research studies on 22q11.2 deletion syndrome, including investigations into neurodevelopment, brain structure and function, and potential treatments for associated conditions.
Uytengsu-Hamilton 22q11 Neuropsychiatry Research Program – This Stanford program supports innovative research projects aimed at improving neurocognitive outcomes and behavioral symptoms of 22q11.2 Deletion Syndrome, with a focus on immediate and long-term impact.
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