Pennsylvania

Family Empowerment Representatives

Family Empowerment Representatives are volunteers who provide emotional support, information and resources to families affected by Rett syndrome. Contacting them should be your first step.

National Family Empowerment Representative

Samantha Brant – Family & Community Engagement Manager, Rettsyndrome.org
sbrant@rettsyndrome.org  1-913-221-8157

Family Empowerment Representative

Maureen Charamella, volunteer Family Empowerment Representative, Springfield
Maureen.charamella@yahoo.com 1-610-766-2930

Julie Peden, volunteer Family Empowerment Representative,
jpedenfive@gmail.com 1-814-657-5005

Treatment and Research Centers

Your child may be able to participate in studies and trials to advance treatment and knowledge of Rett syndrome. There are clinics specializing in Rett syndrome that can help you provide Rett-specific care for your child.

Clinical Trials

Rett syndrome clinical trials are available at various stages in the process. Please visit our Clinical Trial page for current enrollment status.

Natural History Study

Visit Children’s Hospital of Philadelphia Website
1-267-426-5171
For information about the Natural History Study contact Casey Gorman at GormanC@email.chop.edu or Holly Dubbs at dubbsh@email.chop.edu or call.

Travel Assistance for NHS Sites – 1-781-333-1593
Marriott is working on establishing discounts for hotel near our clinical trial sites.  For more information, contact Ashley Lucchese, Marriott Sales Executive Ashley.Lucchese@Marriott.com. Nearby hotels include: The Ritz-Carlton, Philadelphia, Residence Inn Philadelphia Center City, Courtyard Philadelphia Downtown.

Biobanking of Rett Syndrome and Related Disorders

Visit Biobanking of Rett Syndrome and Related Disorders Website
The purpose of this study is to advance understanding of the natural history of Rett syndrome (RTT), MECP2-duplication disorder (MECP2 Dup), RTT-related disorders including CDKL5, FOXG1, and individuals with MECP2 mutations who do not have RTT. Samples with DNA will be collected.

Children’s Hospital of Philadelphia – 1-215-590-5106
For information contact Samantha Hagopians hagopians@email.chop.edu.

Clinics

Children's Hospital of Philadelphia

Visit Children’s Hospital of Philadelphia Website
Children’s Hospital has pediatric neurologists with advanced training and experience in treating the full spectrum of pediatric neurologic disorders.
1-267-426-0122

State Agencies & Resources

Local Service Agencies

Home and Community Services Information System (HCSIS)

Visit Home and Community Services Information System Website

HCSIS is a tool to locate services and providers. This directory is not comprehensive and does not necessarily reflect the availability of services. Use with your Supports Coordinator to determine which services may be best for your family.

Department of Human Services

Visit Department of Human Services Website

The DHS County Assistance Office allows state residents seek assistance and services and is your point of contact with DHS.

Special Kids Network (SKN)

Visit Special Kids Network (SKN) Website
1-800-986-4550
SKN  helps children with special health care needs and disabilities get the services and support they require in order to develop to their full potential. They provide information on health care services and offer service coordination.  They have eight regional coordinators who work in communities to identify service gaps and address the unique challenges of service systems.

The Dream Factory Pennsylvania

Visit The Dream Factory Pennsylvania Website
The Dream Factory is the largest children’s wish-granting organization that does not limit its mission to children who have life-threatening illness. The organization believes children with chronic illnesses and disorders also suffer from substantial emotional and physical pain.

State Medicaid

Pennsylvania Department of Human Services

Visit Pennsylvania Department of Human Services Website
DHS County Assistance Office allows state residents to seek assistance and a range of services for themselves and their families.

Person Family Directed Support Waiver

Visit Person Family Directed Support Waiver Website
This waiver is directed at persons age 3 and older to assist them in living more independently in their homes and communities.

Infant, Toddler and Family Waiver

Visit Infant, Toddler and Family Waiver Website
This waiver provides services to children from birth to age three who are in need of Early Intervention services.

PH-95 Loophole

Visit PH-95 Loophole Website
PH-95 Loophole is a medical assistance program that helps severely disabled children (up to age 18) with medical costs not usually paid for by primary or secondary insurance.

Medical Assistance (Medicaid) Financial Eligibility Application

Visit Medical Assistance (Medicaid) Financial Eligibility Application Website
1-866-550-4355
The DHS application for Long Term Care, supports and services is available online.

healthinsurance.org

Visit healthinsurance.org
Healthinsurance.org explains Medicaid in Pennsylvania.

Early Intervention

Pennsylvania Early Intervention Services

Visit Pennsylvania Early Intervention Services Website
1-800-692-7288
Early Intervention provides supports and services for families with children birth to age 5 who have developmental delays and disabilities.

Education

Pennsylvania Department of Education

Visit Pennsylvania Department of Education Website
1-800-879-2301
The Department of Education oversees special education. Help for families and advocates for children with special needs can be obtained by calling the Consult Line.

Conservatorship

Disability Rights PA

Visit Disability Rights PA Website
Disability Rights gives more information on guardianship.

Transition to Adult Services

Pennsylvania Secondary Transition Guide

Visit Pennsylvania Secondary Transition Guide Website
This guide provides information on transitioning from school to adult based services.

Handicap Placard

PennDot

Visit PennDot Website
1-800-932-4600
To apply for a handicap placard, fill out and notarize form MV-145A including a doctor’s signature. Permanent placards are renewed in March and September of each year. You should receive a renewal approximately 60 days before expiration of the placard. Must have a disability as defined by PennDOT and be certified as having a disability by a physician.

If you have favorite resources to share with others, please email that information and your experience to areed@rettsyndrome.org.

Recreation

Knoebel's

Visit Knoebel’s Website
Knoebel’s is located in Elysburg. There is no admission to enter the park. Guests purchase tickets for the rides. They offer a wrist band that allows disabled guests to enter through the exit gates.

Sesame Place

Visit Sesame Place Website
Sesame Place is located in Langhorne. The Ride Accessibility Program allows guests with disabilities to wait in a virtual line with a prescheduled boarding time.  Enroll in the Ride Accessibility Program at the Welcome Center.

Additional Resources

Pennsylvania Assistive Technology

Visit Pennsylvania Assistive Technology Website
This site has links to products and equipment that aid in the assistance of children and adults with disabilities.

The PEAL Center

Visit The PEAL Center Website
This is an organization of parents of children with special health care needs/disabilities reaching out to assist families, professionals and others who work with children with disabilities/special health care needs.

Disability Rights Network of Pennsylvania

Visit Disability Rights Network of Pennsylvania Website
This is a private, nonprofit organization designated as the federally mandated organization to advance and protect civil rights of individuals with disabilities.