Newly Diagnosed

What Now?

Receiving the news of a diagnosis for your child can be overwhelming.  It creates many emotions and fears.  You may be negotiating medical care, breaking the news of the diagnosis to family and friends and looking at your child’s future in a different way.

Every family goes through their own unique way of dealing with their child’s initial diagnosis.  Some may need time to absorb the information, speak with their support system and gain a level of comfort before they are ready to reach out to formal services and supports.  Others are ready from the outset to learn the ins and outs of what this diagnosis may mean for their child and are very anxious to learn as much as they can about PMS.

Always keep in mind that each child/adult with a diagnosis of PMS is unique.  Often, however, parents are able to find some similarities as they connect to each other.  PMSF is there to help with bridging these connections and provides opportunities to speak with families within your region and worldwide.

There is a biennial conference held.  Families often say how beneficial it was to attend the conference, both for the information provided, but also the opportunity to meet others who share this very rare diagnosis.

Whatever your approach is, PMSF will be there for you to offer information and support which best suits your needs at the time.  Below are some suggestions that families may find helpful.

Angie_2

Angie Foster

Family Support Chair, Region 1S Representative

“When we received the diagnosis we were devastated and saddened.  I immediately started googling PMS and found the PMS Foundation. My first point of contact was  a fellow parent who reached out and answered my flurry of questions and put my mind  a bit more at ease. It was so comforting to have someone who understood what I was going through.

I became the Family Support Chairperson because I want to lend the same support and relay pertinent information to other families, especially those with new diagnoses.”

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. Learn how many families PMSF supports around the world.

Join the Phelan-McDermid Syndrome Foundation

Join PMSF Family Facebook page

 

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

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

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

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)

Care Notebooks

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

PMSF | Phelan-McDermid Syndrome Foundation