You just received
a diagnosis. Now what?

A compassionate, step-by-step guide for families navigating the first hours, weeks, and months after a 5p- Syndrome diagnosis. You are not alone, and there is a path forward.

Start Here: First 24 Hours Talk to a Family
Phase 1

The First 24 Hours

Receiving a diagnosis — whether at birth, in the NICU, or months later — can feel overwhelming. In this moment, the most important thing is to breathe. You do not need to have all the answers today.

A note before you begin

5p- Syndrome presents across a wide spectrum. Many children with 5p- lead joyful, meaningful lives — developing relationships, communicating in their own ways, and bringing immeasurable love to their families. The road is different, not lesser.

Give yourself permission to feel

Shock, grief, fear, and love can all coexist. All of your feelings are valid and typical. You don't have to be strong right now.

Ask for a genetics referral

Request a referral to a medical geneticist or genetic counselor who can explain the specific chromosomal deletion and what it means for your child.

Write down everything

Keep a notebook or use your phone's notes app. Write down diagnoses, names, phone numbers, and questions as they arise — there will be a lot of information coming fast.

Contact the Five P- Society

You can reach us at (562) 804-1783 or info@fivepminus.org. Our volunteers include parents who were once in your exact position.

Hold off on unsolicited research

It's tempting to search the internet, but much of what you'll find is outdated or not representative of the full spectrum. Start with our curated resources instead.

You do not have to tell everyone today

Sharing the news with family and friends can wait until you're ready. Protect your energy and emotional bandwidth during these first hours.

"When they told us, I remember staring at the ceiling thinking the world had ended. It hadn't — it was just beginning in a way I hadn't expected."
— Maria, mother of Eliana (diagnosed at birth, now age 9)
Phase 2

The First Week

As the initial shock settles, the first week is about gathering information, building your support team, and beginning to understand what early intervention will look like for your child.

Build your medical team

Pediatric geneticist

This specialist will review the karyotype, explain the size and location of the deletion, and coordinate initial medical workups.

Developmental pediatrician

Will assess your child's current development and recommend therapies and early intervention services.

Speech-language pathologist

Early speech evaluation is critical — feeding, oral motor skills, and early communication should be assessed as soon as possible.

Audiologist

Hearing loss affects many children with 5p-. A full audiological workup should be scheduled promptly.

Early Intervention coordinator

In the U.S., children under age 3 qualify for free Early Intervention services through IDEA Part C. Request an evaluation immediately.

Actions to take this week

Request all medical records

Get copies of the karyotype report, FISH results, and any genetic testing reports. You'll need these for every specialist going forward.

Download the Caregiver's Guide

Our free Caregiver's Guide covers everything from feeding strategies to school planning in one place.

Connect with other families

Our private Facebook group has over 2,000 members — parents who have navigated exactly where you are. Join for peer support and real answers.

Early Intervention matters enormously

Research consistently shows that early, intensive intervention leads to significantly better outcomes for children with 5p-. The first three years of life are the highest-impact window. Do not wait for specialists to reach out — advocate loudly and early.

Phase 3

The First Month

The first month is about building systems — medical, educational, financial, and emotional — that will carry your family through the years ahead. It's a lot, but you don't have to do it alone or all at once.

Review your insurance coverage

Understand what therapies (speech, OT, PT, ABA) are covered, what requires prior authorization, and what your annual caps are. Advocate for medical necessity letters from your physicians.

Learn about IEPs and IFSP

Children with 5p- qualify for special education services. An Individualized Family Service Plan (IFSP) begins at birth; an Individualized Education Program (IEP) begins at age 3. Both are legally binding and rights-based.

Explore government benefits

Supplemental Security Income (SSI), Medicaid, and state-specific waivers may be available. Connect with a benefits counselor or disability rights organization for guidance.

Prioritize caregiver support

Caregiver burnout is real. Seek out respite care, therapy for yourself, and lean on your partner, family, and community. You cannot pour from an empty cup.

Start a medical binder

Create a physical or digital binder with all diagnoses, medications, specialist contacts, insurance info, and therapy records. This will become invaluable at every ER visit and school meeting.

Join the Five P- Society

Membership connects you to our annual conference, regional coordinators, newsletter, and the entire 5p- family network. Annual membership is just $50 for families.

A word about online information

Old medical literature about 5p- can be deeply inaccurate and discouraging. Outcomes described in papers from the 1980s and 1990s do not reflect what's possible with today's early intervention, therapy technology, and family support systems. Please lean on our community for current, lived-experience perspectives.

"The binder saved us so many times. Every ER, every new specialist — I'd hand it over and say 'everything you need is in here.' It gave me a sense of control when nothing else did."
— James, father of Lucas (diagnosed at 4 months)
Phase 4

The First Year

By the end of the first year, many families report feeling less overwhelmed — not because the challenges have gone away, but because they've built knowledge, community, and systems that make them navigable.

Therapy milestones to aim for

Speech therapy in place

Early speech and feeding therapy should be underway, ideally with a therapist experienced in low-tone/neurological presentations.

Occupational therapy assessed

OT addresses fine motor, sensory processing, and self-care skills — all areas commonly affected in 5p-.

Physical therapy ongoing

Hypotonia (low muscle tone) is nearly universal in 5p-. PT addresses gross motor development and posture.

IFSP reviewed and updated

Your child's IFSP should be reviewed every 6 months and must reflect current therapy goals.

Annual conference attended

The Five P- Society's annual conference brings together hundreds of families, clinicians, and educators. It is transformative for most first-time attendees.

What to expect to learn

Your child's specific deletion

The size of the chromosomal deletion (small vs. large) broadly predicts the level of support your child will need, though individual outcomes vary widely.

Communication style

Many children with 5p- develop meaningful speech; others communicate primarily through AAC (Augmentative and Alternative Communication) devices, signs, or pictures. There is no single path.

Your own resilience

Most families tell us that by the end of the first year, they've found a rhythm — one that includes grief, joy, advocacy, and a community they never would have found otherwise.

Ready to connect with other families?

Our regional coordinators are parents themselves — many of whom were once in your exact position. They can answer questions, share their journey, and help you feel less alone.

Find Your Regional Coordinator
5p-
Family Network
Questions

Questions to Ask Your Doctor

Walking into a geneticist's or developmental pediatrician's office for the first time can be intimidating. Use this list to guide your conversations — it's always appropriate to ask, and a good doctor will welcome it.

For the geneticist

Deletions in 5p- Syndrome vary in size. Larger deletions (5p15.2 and beyond) are generally associated with more significant intellectual disability, while smaller deletions closer to 5p15.3 may involve primarily the cry and speech characteristics. Ask your geneticist to show you exactly what was deleted on the chromosome.
About 80-85% of 5p- cases occur as a spontaneous (de novo) deletion during the formation of egg or sperm cells. In roughly 10-15% of cases, one parent carries a chromosomal rearrangement called a translocation. If a parental translocation is found, the recurrence risk for future pregnancies can be significant, and other family members may wish to be tested.
At minimum: audiological evaluation (hearing loss is common), ophthalmology (strabismus and other eye issues), cardiac evaluation (congenital heart defects occur in some cases), and hip evaluation if the child has significant hypotonia. Your geneticist should provide a recommended screening schedule.
Yes — both parents should have chromosomal analysis to determine if either carries a translocation or rearrangement. If a balanced translocation is found, siblings and other relatives may be offered testing as well.

For the developmental pediatrician

Most children with 5p- benefit from early speech/language therapy (including feeding therapy if present), physical therapy for hypotonia and gross motor delays, and occupational therapy for fine motor skills and sensory processing. Early intervention is most impactful before age 3.
Your pediatrician will help you understand a realistic timeline for sitting, walking, first words, and other milestones — adjusted for your child's specific deletion and current developmental profile. Ask them to explain both the typical range and what would warrant additional evaluation.
In the US, IDEA Part C guarantees free Early Intervention services for children birth to age 3 with developmental delays or diagnosed conditions. Ask your physician to write a referral, and contact your state's Part C coordinator to initiate evaluation. Services should begin within 45 days of referral.
Common co-occurring conditions include scoliosis (watch for uneven shoulders/hips), seizures (discuss the specific risk level based on your child's deletion), and behavioral challenges including hyperactivity and self-stimulatory behaviors. Ask your doctor what to watch for and when to follow up.

Download the First Appointment Checklist

Our one-page printable checklist helps you organize what to bring to your first genetics appointment, what questions to ask, and what information to request. Share it with your partner or support person before you go.

Get the Checklist

You are not navigating this alone.

The Five P- Society has been supporting families since 1986. Our members, coordinators, and staff are ready to walk alongside you — however you need us.