Resources

Being a caregiver for a person with a rare disease can take on many forms.  Some days you may take the role of parent as medical provider, parent as teacher, parent as financial planner, or parent as advocate.  It is a role that can be overwhelming at times but also so rewarding.

This page includes resources to help with the daily care of your child with Phelan-McDermid Syndrome. Over the course of your child’s life, you will need to plan for your child’s education, clinical care, long-term finances, transition to adulthood, legal matters, medical benefits, and more. These links can get you started on your plans.

* Note that services differ between states, regions, countries.

Medical/Clinical:

These resources can help you determine what you need to talk with your doctors/clinical specialists about.Medical Assessment and Monitoring of those with Phelan-McDermid Syndrome, a review of the literature and practice parameters from the Journal of Neurodevelopmental disorders. A good resource to share with doctors.The PMS Clinical Care Practice Parameter infographic was created by PMSF to help families and their clinical care team to begin discussions about assessment and care of individuals with Phelan-McDermid Syndrome.  Note: not all people with PMS need all assessments. Talk with your doctor.

+  Clinical Care Practice Parameters

+  Clinical Care Infographic (download)

+  Features and Comorbidities

+  Care Notebook

+  Seizure Tracker

+  Unique - Understanding Chromosomal Disorders

+  The Mighty- Facing disability and mental illness

+  NORD - National Organization of Rare Disorders

+  Global Genes - Rare disease patient advocacy group

+  Genetic and Rare Disorders Organization Network for rare disorders, Dublin

+  + Everyday Life Foundation Accelerating biotech innovation for rare disease treatments

Research

Below are a collection of research publications that include discussions regarding genetic causes of autism. Many specifically reference Phelan-Mcdermid Syndrome.

+ Spectrum News, The Genetics of Autism

+ Spectrum News, Autism Genes Drug Screens

US Federal Benefits

Medicaid and Medicare programs are available to help provide affordable health care and services for individuals with disabilities.  Some vary by state, so contact your state agency to learn more about benefits for children and adults with disabilities.

+  Benefits Finder

+  Benefits Checkup - help pay for prescription drugs, food and health care

+  Medicaid - CHIP

+  Medicare Information

+  Medicare Website

Education

Federal Legislation is mandated by the Individuals with Disabilities Education Act (IDEA), a law ensuring services to children with disabilities throughout the nation. IDEA governs how states and public agencies provide early intervention, special education, and related services.

+  IDEA – Individuals with Disabilities Education Act - federal legislation

+  IDEA Understood

+  IDEA - Federal Website

Individual Education Programs (IEP) can be confusing, but are very important to the success of your child in schools.

+  Department of Education

+  A Guide to the Individualized Education Plan

+  Wrightslaw

+  Understood.org

+  How to organize your IEP

+  VeryWell

Parent Training and Support is critical throughout your child's life.  States have federal and state programs in place to help parents and caregivers understand their child's rights to education and to help with planning for a rewarding life

+  Find Your Parent Training Information Center in the  U.S

+  Center for Parent Information and Resources

+  Parenting Special Needs Magazine

+  Family Voices

+  The ARC

+  Friendship Circle - Parenting, Daily Living

+  Spectrum - Autism

+  Wyatt Special Education Advocacy Training

Transition Planning starts at age 14-16 depending on state laws.  Students are invited to participate in IEP and Transition planning meetings where plans are made to provide supports and services to give the student opportunities to explore work and volunteer situations that are of interest to them in preparation for adulthood.

+  Transition Handbook - download

+  Parent Center

+  ARC – Tranisition Timeline

+  GOT TRANSITIONS Healthcare transition

Adulthood

Federal Waiver Services provide states reimbursement for community-based services for adults with disabilities.  These supports include day programs, work programs, and residential programs. Waiver programs vary by state, so contact your state agency to find out if your child qualifies for waiver services.

+  Home and Community Based Waivers

+  Medicaid Waiver by State

+  HCBS Clearinghouse - Boston College Resource

Housing and residential services vary by state.  It is never too early to start thinking and planning for housing whether you are planning on your adult child living in your home, an accessory apartment, a community group home, or a home of their own.

+  Section 8 Housing - apply at age 18

+  Nationwide Affordable Housing

Person Centered Planning is the process of creating a plan based on an individual's personal strengths and preferences.  The process involves anyone who is involved in supporting the individual including family members, community members, service providers and others.

+  Pacer.org

+  NCSET

+  National Gateway to Self-Determination

Transition from pediatric to adult medical providers can be a challenging time for anyone, but especially when your child requires the care of many specialists. Planning for the transition can ease the tasks of choosing providers, transferring records, and ensuring that specialist are informed about PMS.

+  Child Neurology Foundation, Transition of Care

+  Got Transition for Youth & Families

+  Got Transition for Providers

+  NYMAC Transition Webinar Part 1

+  Pacer.org

These toolkits will help you organize and plan for transition to adulthood.

+  Autism Speaks, Planning for Transition

Legal

It can be difficult to take the first steps in planning for your child’s future. As parents, you are often busy with the daily challenges of raising a child with autism. By taking action early on, before the age of majority, you can help protect your child’s future wellbeing and rest a bit easier.

+  Legal Matters to consider - Autism Speaks Toolkit

Special Needs Trusts are a way to protect assets of a person with special needs to take care of some expenses without jeopardizing any governmental subsidies the person may receive.

+  American Bar Association pdf

+  findlaw.com/trusts/special-needs-trusts

+  National Alliance on Mental Illness

Guardianship is a legal proceeding in which someone (usually a family member) asks the court to find that a person is unable to manage his or her affairs effectively because of a disability.

+  Guardianship Guide  - Friendship Circle

Financial

The (Achieving a Better Life for Experience)ABLE Act amends Section 529 of the Internal Revenue Service Code of 1986 to create tax-advantaged savings accounts for individuals with disabilities. These tax-advantaged savings accounts can be used to cover qualified disability expenses such as, but not limited to, education, housing and transportation.  Find out how the special savings accounts will affect you, what they can be used for and how your special needs child will benefit.

+  ABLE Legislation by State – The ARC

+  National Fragile X Foundation - ABLE Act Explained

+  Autism Speaks - 10 things to know about the ABLE Act

Accordion Sample Description

Safety

We all want to keep our children safe and secure and help them to be happy and healthy. Finding the right information and learning about the kinds of risks children might face at different ages is often not easy for parents of children with disabilities.  Below are some resources that can help you create a life that balances independence with safety.

+  Safety Project - Autism Speaks tips, information, expert advice, and resources

+  Keeping Children with Disabilities Safe - recommendations from the CDC

+  Big Red Safety Box - National Autism Association wandering prevention kit

+  Rescue Facts - wearable personal identification wrap

+  Preventing Wandering - Autism Speaks

+  Autism & Wandering - National Autism Association

+  Water Safety - Autism Speaks

Legislative Advocacy

Travel and Community Supports

+ http://www.palservices.org  Patient AirLift Services (PALS) is a 501(c)(3) nonprofit that arranges free air transportation for individuals requiring medical diagnosis, treatment or follow-up who cannot afford or are unable to fly commercially. PALS also arranges volunteer flights for family members of patients as compassionate missions, to ensure patients have support when they are away home for long periods.

+  http://www.miracleflights.org  MIRACLE FLIGHTS is a non-profit organization whose mission is to improve access to health care by providing financial assistance to low income children for commercial air travel.

+  http://passitoncenter.org Pass It On Centers: A national network of centers that foster the reuse of assistive technology and durable medical equipment throughout the country.

+  http://wish.org Make A Wish grants the wish of a child diagnosed with a life-threatening medical condition throughout the United States and territories. Families are given the opportunity to make lasting memories together.

Caregiver Supports

Caregivers are an important part of our healthcare system. Respite is rest for the caregiver to allow them to be strong, refreshed and healthy enough to care for their loved on with health care needs.

+  http://archrespite.org The mission of the ARCH National Respite Network and Resource Center is to assist and promote the development of quality respite and crisis care programs.

+  http://lotsahelpinghands.org Lotsa Helping Hands powers online caring communities that help restore health and balance to caregivers’ lives. Service brings together caregivers and volunteers during crisis.

Parenting a child with a rare disease can cause isolation. Parent to parent networks like PMSF can provide support, resources and comfort to a caregiver. Below are parent resource groups that may be active in your local area.

+  http://www.autismspeaks.org/ A state-by-state resource guide for children's and adult services.

+  http://caregiveraction.org/ The Caregiver Action Network(CAN) is a family caregiver organization working to improve the quality of life for the than 90 million Americans who care for loved ones with chronic conditions, disabilities, disease, or the frailties of old age.

+  http://caregiver.org Family Caregiver Alliance supports and sustains the important work of families nationwide caring for adult loved ones with chronic, disabling health conditions.

+  http://www.themighty.com/ The Mighty is real people who face disability, disease and mental illness together.

+  http://courageousparentsnetwork.org/ The Courageous Parents Network supports parents and families of children living with serious illness with the skills, tools and virtual support they need to cope and adapt during their child’s illness journey.

+  http://www.eparent.com Exceptional Parent (EP), a specialized magazine now in its 42 year, provides practical advice, emotional support and up-to-date information for families of special needs children. Among EP’s multi-media offerings include their monthly magazine, Resource Guide, web site, accredited seminars and teleconferences and the World Congress on Disabilities international conference.

+  http://globalgenes.org/toolkits The Global Genes organization is one of the leading rare disease advocacy organizations, with global reach to the worldwide rare community of patients, caregivers, advocates and clinical partners. Their site features a variety of toolkits that cover a range of topics such as pediatric palliative care, parenting a child with a life-limiting illness, genetic testing, and legislative advocacy.

+  http://mommiesofmiracles.com/ Mommies of Miracles is the worlds largest virtual support group for mothers of children who have medical complexities or developmental disabilities.

It is not always easy to know what to do support someone in your life who is raising a child with a rare disease. Sometimes just a smile or a laugh can help. But if you want to do more you can, first ask the person if there is a way you can help/support them. If they are in crisis, you can organize supports to help with other children or a meal. there are apps that help you organize your community to help family members/friends.

+  http://www.caringbridge.org/ CaringBridge is a nonprofit committed to bringing friends and family together during any form of health journey. Start a site today for you or a loved one!

+  Go Fund Me is a fund-raising platform that allows you to create a campaign to help someone in need.

+  Just Giving is a fund-raising platform that helps people make good things happen.

There are many patient advocacy and support groups that have created excellent toolkits to help families cope with day-to-day challenges of caring for a child with a rare disorder. Even though some of these are not specifically developed for individuals with Phelan-McDermid Syndrome, the suggestions and advice can be applicable.

+ Autism Speaks Family Services Toolkits