Welcome

Our community is here to make sure you have the tools and support you need going forward as you navigate the medical, educational, and therapeutic aspects of your child’s life.

Whether you want to watch from the sidelines at first, or dive in with both feet, someone is here for you.

There is a lot of valuable information on the website and we suggest you take it in small doses, when you are ready.

You must have so many questions and ideas racing through your head. You’ve recently been told that your family member (most likely your child) has been diagnosed with Phelan-McDermid Syndrome.  Depending on where you received your diagnosis, you may already have some information about this rare genetic condition, or your doctor may have been a bit mystified.

Each of you reading this will have a unique story about the day you received the diagnosis and the steps you took from that moment forward in a new world you did not expect to visit.    You may not have seen any visible signs of a difference, in your child, in fact, you may be pregnant.  You may have a child whose developmental path in early childhood, causing you to reach out to a physician.   You may have had another diagnosis for your child, one that didn’t quite “fit”, and now genetic testing has given you a very specific name for your child’s condition.   You may have been wondering about your child for some time, or noticed a change in your adolescent that led to the definitive test for PMS.

Whether you are beginning your journey, or putting together pieces of a puzzle, you will find the support and information you seek through the foundation.  Navigating the world of rare disease can seem daunting.  We can help by introducing you to other families in your area, give you an opportunity to be involved with our wonderful medical and scientific advisors, and help you gain skills in advocating for your family member.

There is a great diversity of ability in our community.  Our members are each unique, and the gifts and challenges you will face will unfold over time.   We will keep you informed of the latest research, and provide useful information for day to day living through webinars, conferences, and articles.   We will celebrate your milestones and comfort you when you are struggling.

Sue_Lomas

Susan Lomas

President, Phelan-McDermid Syndrome Foundation

I wish we were strangers. But due to the collateral beauty of our lives, we are family. So, welcome to the window to our world. Our website, our conference, our foundation belongs to you. Our family is here to support you, educate you, involve you. We lift each other up, everyday. Strangers no more.

UNITED in HOPE

Our theme for the 2018 International Family Conference was United in Hope.  Too often when families first receive a diagnosis of Phelan-McDermid syndrome, they report that they were not given hope by the diagnostician, causing anxiety and fear.  Please read the following compilation of Gratitudes written by parents and family members during our Caregiver Coping session, titled The Good, The Bad and The Funny.  We hope that you will realize that you have reason for hope for your child when you connect with members of your “PMS Family”.

We are an international family, united in hope, we’re in it to win it, and we are Phelan Lucky.

Click here to read Caregiver Statements of Gratitude

Next Steps

Get Connected

Join PMSF Membership

PMSF has a regional network of caring and experienced parents to support you, called “Regional Representatives” (or Regional Reps). When you join the foundation, you will be contacted by your Rep, who will be available to tell you more about living with PMS, answer questions and connect you with other families in your area. PMSF offers families a closed Facebook page for families who would like to connect on social media with other families.

Join the Phelan-McDermid Syndrome Foundation

Join PMSF Family Facebook page

WHAT IS THE DIFFERENCE BETWEEN JOINING THE FOUNDATION AND ENROLLING IN THE REGISTRY ? click here

Enroll in PMS International Registry

The Phelan-McDermid Syndrome International Registry(PMSIR) connects patients with researchers. If you are interested in helping researchers help all of our children and those affected by PMS, enroll in our registry. The PMSIR is the largest collection of patient-reported data in the world. Once you enroll the registry, you can query the data to learn more about PMS phenotypes and use the data to advocate for financial, medical and educational care for your child.

Phelan-McDermid Syndrome International Registry (PMSIR)

View Patient Information Webinars

Learn about PMS

Clinical Care

Each child with Phelan-McDermid Syndrome is different, so you will need to build your clinal care team based on your child’s healthcare needs. In some cases, you may have more information on PMS than your clinician or therapist at the beginning, so search for providers who will learn and work with you to provide care and advice.

This paper on practice parameters (how doctors care for patients) by Dr. Alexander Kolevzon et al. of Icahn School of Medicine at Mt. Sinai in New York City includes helpful information you may want to share your child’s doctor.  PMSF has created a complementary infographic, based on this study to help families communicate clinical teams:

Medical Assessment and Monitoring

PMS Clinical Care Practice Parameters

What is PMS?

Take a breath, and when you are ready, begin with the About PMS page to learn more about Phelan-McDermid Syndrome. Make sure you understand your child’s genetic test results and make sure you have had the proper tests performed. Use the links below to learn more about diagnosis of Phelan-McDermid Syndrome, diagnosis and characteristics.  There are many genetic terms to learn, so take your time and ask for help.

About Phelan-McDermid Syndrome

+ Diagnosis of Phelan-McDermid Syndrome

Get Organized

Contact your local Health Agency and Parent Training Institute

Don’t hesitate to ask for help.  This can be one of the most difficult hurdles for families of newly diagnosed children, but once you are able to build a support network and get help, you will be better able to care for yourself and your family.

Reach out to your child’s pediatrician, your local health care agency, your nearest parent training institute.  Though the applications and paperwork can seem daunting, the benefit of medical, home-health and respite supports can be of great help.  Look for home-health aide, nursing, personal care, or respite attendants to help with the care of your child.  If your child has an autism diagnosis, search for an autism support center in your area for services and referrals.

When your child is 0-3, you may be able to get Early Intervention services to help with speech, occupational therapy, physical therapy or social skills, When your child is approaching school-age (3-4 years old) take a course in Individual Education Plans(IEP).  Your local Parent Training Institute can help you find resources in your area.

State Medicaid & CHIP programs

+ Parent Training Institutes

+ International links

Keep Records

Good record keeping will help you get the best care for your child.  You may be dealing with medications, therapies, educational strategies all at the same time.  Some caregivers find it helpful to use a calendar to make daily notes, some use paper notebooks, some use technology.  Use whatever works for you; you will be glad you did.

Keep a contact record for your clinical care team, family and friends.

Caregiver Frequently Asked Questions (FAQ)

+ Respite Care Notebooks – Child Neurology Foundation

       + Care Notebooks

 

When you are ready for more information, click below to visit the Family Support page.

PMSF | Phelan-McDermid Syndrome Foundation