Family Resources

Family Resources

Caring for a person with Phelan-McDermid syndrome (PMS) requires wearing many hats. Gathering information not only about PMS, but also local resources, education, safety precautions, medical care, legal issues, legislative policy, transition to school, transition to adulthood, adult living options and so much more can be overwhelming. We have gathered and created resources to help you on your journey.

Please click on the “Share” link if you have an awesome resource that has been helpful to you. If you don’t find something here, but would like us to research resources for you, contact us.

Hayley Judd
IMG_6671
Ellie-7-Indianapolis, IN

Caregiving and Respite

Care for the caregiver is a necessary, yet often overlooked need for families that include a child with a rare diagnosis and special healthcare needs. Respite means “rest” for the caregiver. This is one way to recharge and maintain stamina to be available to others to provide care. Sometimes caregivers are hesitant to reach out for help or cannot find help. These resources can help you get organized so you can start to find the help and rest you need.

Child Neurology Foundation’s (CNF’s) Respite Care Notebook was created for families who use respite care services or are thinking about it. Use the forms in this free Notebook to tell the respite caregivers about your child and his/her needs. They can use that information to provide the best care for your child. The Notebook is now available in hard copy and as a downloadable file. Caregivers Need Care Too!

National Respite Coalition – Respite is planned or emergency care provided to a child or adult with special needs in order to provide temporary relief to family caregivers who are caring for that child or adult. For more information on how to find and choose respite care.

 The ABCs of Respite

A Mother’s Rest – At A Mother’s Rest, we believe that frequent, affordable respite is a key factor in keeping special needs parents and caregivers healthy.   Ensuring the best care of disabled children and adults means ensuring the best care for their parents.  

Coming Soon

Health

Every person with Phelan-McDermid syndrome is different and there are many conditions, (called comorbid conditions), that occur in some people with PMS. These may include conditions like seizures/epilepsy, gastrointestinal issues, kidney function, and heart defects. Not all individuals with PMS have all the possible conditions. Consult with your healthcare professional for advice about your situation. 

About Vaccines:

  • NORD: FDA and CDC Leaders Discuss Vaccines and Rare Disease
  • CDC Guidance on Vaccines

About Wearing Face Masks:

Sources for COVID-19 information:

COPING RESOURCES

Understanding a genetic diagnosis can be overwhelming. We have selected these resources for those who want to dabble in basic genetic terms as well as the brave-hearted who want a deep dive into the complexities of human genomics. Click on the bold titles below to link to each resource.

  • OMIM – Online Mendelian Inheritance in Man®.An Online Catalog of Human Genes and Genetic Disorders
  • DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources). An interactive web-based database which incorporates a suite of tools designed to aid the interpretation of genomic variants.
  • MedlinePlus is a service of the National Library of Medicine (NLM), the world’s largest medical library, which is part of the National Institutes of Health (NIH).
  • National Institute of Health Genetic Primer – Help Me Understand Genetics
  • Your Genome – Learn About DNA, Genes, and Genome Mutations
  • Global Genes  – How a Genetic Counselor Can Help You
  • How to Read a Genetic Report: Reading and understanding your genetic report is like reading a foreign language. Often the report is presented in a way that is not easily understood. Receiving a genetic diagnosis can be frightening to families and often the recipient is not in a good frame of mind to understand all of the terms and implications. Dr. Tesi Kohlenberg, MD, a PMS mom and psychiatrist has compiled a guide for families.  Click here for spanish.

People living with Phelan-McDermid syndrome often need a customized plan based on their medical history. Below are steps to help someone who is experiencing any type of seizure.

A Seizure Action Plan is a tool to clearly communicate the appropriate steps to take in an emergency. February 8-14th has been designated as Seizure Action Plan Awareness Week. We are also happy to share Seizure Action Plan templates for your use available in 8 languages from the Epilepsy Foundation:

GENERAL USE SEIZURE ACTION PLANS:

SCHOOL USE SEIZURE ACTION PLANS:

We thank the Epilepsy Foundation, LGS Foundation, Dravet Syndrome Foundation, and Tuberous Sclerosis Alliance for these important resources.

Children with autism are likely to suffer many more oral health problems, including tooth decay, gum disease and dental injury, than children without autism. Many autistic kids have sensory sensitivities that make it difficult to maintain an effective oral hygiene routine. These issues may also make visits to the dentist challenging.

Parents and caregivers can do several things to make oral hygiene and dental visits easier for their autistic kids. 

byte – A guide for dental care for individuals with autism spectrum disorder

Oral Health and Hygiene for those who do not eat by mouth. A DEE-P and the KCNT1 Epilepsy Foundation webinar, September 16, 2022

I used to obsess over milestones… We learned while waiting for the big stuff to happen to also celebrate the “inch stones” that come in between.

Therapies

From no-tech to high-tech, our families use a variety of augmentative communication strategies with their children and adults with PMS. Here are just a few:
 For general information about AAC, visit the American Speech-Language-Hearing Association (ASHA)

Education

Educating yourself on your child’s rights and the Individual Education Planning process is one of the most empowering actions you can take as you become a strong advocate for your child. Every state in the US has a federally funded Parent Training Institute to help you learn about the laws that protect your child’s right to a free and appropriate education. The more you learn, the more confident you become as an active partner at the table with your child’s eduction team.

Parent training is critical throughout your child’s life.  Educating yourself may be one of the most important gifts you give to your child. Don’t depend on service providers for all the answers. Make every effort to learn as much as possible about each step of education process. In the US all 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

 

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

+  Wrights Law

+  Find your local chapter of The Arc

+  Rare Disease Legislative Advocates (RDLA)

+  Everyday Life Foundation

Individual Education Programs (IEP) can be confusing, but are very important to the success of your child in schools. Don’t forget to address “Related Services” such as Physical, Occupational, and Speech Therapy. You and your child write your child’s vision. You are a member of the planning team.

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.

Safety

This site provides safety checklists for fire safety, wandering, and natural disaster preparedness. The September 26 projects suggests that 10 mins of planning per year can save lives.

+ September26 website

+ Fire Safety

+Wandering Checklist

+ Natural Disaster

The National Autism Association is committed to those with an Autism Spectrum Disorder (ASD) who may be prone to wandering off or eloping from a safe environment, and may be unable to recognize danger and/or stay safe. Wandering, elopement, “running” or fleeing behaviors among those within our community not only present unique safety risks, but also create extraordinary worry and stress among caregivers.

+ Big Red Safety Box

Travel

Travelers requiring special accommodations or concerned about the security screening process at the airport may ask a TSA officer or supervisor for a passenger support specialist who can provide on-the-spot assistance.

+ Passenger Support

Autism Angel Flight NE, a 501(c)3 nonprofit organization that coordinates free air and ground transportation for medically stable patients seeking medical care for healthcare conditions including rare and ultra-rare diseases that requires them to travel hundreds if not thousands of miles for the specialized care they need.

Our vital mission is made possible thru the generosity of our volunteer pilots and commercial aviation partners who fly medically stable children & adults for FREE. We have been humbly providing our services for 27 years assisting more than 108,000 patients who have flown over 15 million miles to 750+ medical facilities throughout the United States.  We also provide our services to patients who need to travel internationally to receive specialized care.

Over the last several months, there has been an increase of flight requests for patients – children and adults – diagnosed with rare and ultra rare diseases. Our mission/flight coordinators, who are available 24×7, use our web-based system to schedule flight made possible by our 400+ volunteer pilots or commercial airline partners. These flights are completely FREE of charge to the patient & family for as long & as often as they need to fly.

+ Angel Flight Website

+ recent video 

+ Angel Flight | People Flying People in Need – this page provides a map where you can click on your state and see all the available options.

 

 

Children’s Flight of Hope (CFOH) provides flights to essential, life-changing, and life-saving medical care for children in need. (anywhere in the country – commercial flights)

 

Miracle Flights. A Cure For Distance 

Miracle Flights provides free commercial flights to sick children and their families in need of life-saving medical care not found in their home communities. Miracle Flights is the only national nonprofit headquartered in Las Vegas, Nevada.

State by State Resources

Every US State has a federally funded Parent Training Institute (PTI)

Parent to Parent: At Parent to Parent USA, when someone asks what we do, we say we empower and support parents, nationwide.

Family to Family (F2F) / Family Voices: Family-to-Family Health Information Centers (F2Fs) are family-led centers funded by the Health Resources and Services Administration (HRSA). There is one F2F in each state, in the District of Columbia, in five U.S. territories, and there are three F2Fs serving tribal communities. 

Angelman Syndrome State Resource Guide

ASK Resource Center: ASK (Access for Special Kids) Resource Center is a parent training, information, and advocacy center for families of children with special needs across the state of Iowa.

 

NORD State Report Card

US Benefits

How A Child Can Qualify For Social Security Disability Benefits With Phelan-McDermid Syndrome

Individuals diagnosed with PMS may qualify for Supplemental Security Income (SSI), which is a needs-based disability program, administered by the Social Security Administration (SSA).

Meeting the Medical Criteria

The SSA uses a medical guide, which is called the Blue Book, to determine if a claimant medically qualifies as disabled per the SSA requirements. The SSA has what is called a Compassionate Allowances (CAL) program, which are life-threatening or terminal conditions that qualify for expedited claims approval. About 100 conditions are on the CAL list, and PMS is included. To have your child’s claim approved, you will need to provide supporting medical documentation. You will need to provide documentation that includes medical tests that confirm the child has a confirmed diagnosis, and that the condition meets the guidelines of the CAL program.

Documentation that you must include may include medical reports including a clinical history and exam notes detailing the disease and its diagnostic features, molecular genetic testing or fluorescent in situ hybridization test analysis showing deletion of the chromosome, developmental assessments or psychological testing that addresses the mental impairments and so forth. Without hard medical evidence, the claim will not be approved. With the supporting documentation, the claim should be approved within a matter of weeks rather than months.

Meeting the Financial Requirements

SSI is a needs-based program, so specific financial criteria must be met. The SSA believes a child has access to a portion of the parental income. A process called deeming is used. Using this approach, the income of the parents is added, and deductions are made for each member of the household. Different income limits are set for single parent households versus two-parent households. All children in the home are also considered. Proof of income, such as paystubs, tax forms, and so forth will be required. Assets are also considered. You will need to gather bank statements, property deeds, car titles, investment records, retirement account documents, and so forth.

Applying For Disability Benefits

If your child suffers from PMS, you will want to start the disability application. You can start the process online or by calling 1-800-772-1213 and speaking with a representative or make an appointment to visit an SSA office. You should have all the supporting evidence, including medical records and financial documents ready for review. Without the needed documents, the claim can be denied, or the processing can be delayed.

Resources:

 

Within broad Federal guidelines, States can develop home and community-based services waivers (HCBS Waivers) to meet the needs of people who prefer to get long-term care services and supports in their home or community, rather than in an institutional setting. In 2009, nearly one million individuals were receiving services under HCBS waivers.

Nearly all states and DC offer services through HCBS Waivers. States can operate as many HCBS Waivers as they want — currently, about 257 HCBS Waiver programs are active nationwide. 

HCBS Waiver Program Basics

State HCBS Waiver programs must:

  • Demonstrate that providing waiver services won’t cost more than providing these services in an institution
  • Ensure the protection of people’s health and welfare
  • Provide adequate and reasonable provider standards to meet the needs of the target population
  • Ensure that services follow an individualized and person-centered plan of care

Each state creates an implementation plan, so the services and terminology across states will vary. 

Who Can Get Coverage?

This waiver enables states to tailor services to meet the needs of a particular target group. Within these target groups, states are also permitted to establish additional criteria to further target the population to be served on a HCBS waiver. For example, the population can be targeted by age or diagnosis, such as autism, epilepsy, cerebral palsy, traumatic brain injury, or HIV/AIDS. Eligible individuals must demonstrate the need for a Level of Care that would meet the state’s eligibility requirements for services in an institutional setting. States choose the maximum number of people that will be served under a HCBS Waiver program. 

What’s Covered?

States can offer a variety of unlimited services under an HCBS Waiver program. Programs can provide a combination of standard medical services and non-medical services. Standard services include but are not limited to: case management (i.e. supports and service coordination), homemaker, home health aide, personal care, adult day health services, habilitation (both day and residential), and respite care. States can also propose “other” types of services that may assist in diverting and/or transitioning individuals from institutional settings into their homes and community.

 

 

 

Home & Community Based Services Authorities

Look up Waivers by State

 

Home and Community Based Services (HCBS) first became available in 1983 when Congress added section 1915(c) to the Social Security Act, giving States the option to receive a waiver of Medicaid rules governing institutional care. In 2005, HCBS became a formal Medicaid State plan option. Several States include HCBS services in their Medicaid State plans. Forty seven states and DC are operating at least one 1915(c) waiver.

State Medicaid agencies have several HCBS options:

The Centers for Medicare & Medicaid Services (CMS) works with states to assure and improve quality in Medicaid HCBS waiver programs. See page on quality monitoring of HCBS waivers for more information.