Cohen syndrome: What to do next when your child has been diagnosed
Getting a diagnosis of Cohen syndrome is a milestone that can be difficult to process. You've likely received a lot of information, and it may feel overwhelming. Take time to process this news at your own pace. Understanding your child's diagnosis is a journey, not a race.
As you're ready to think about what happens next, we're here to help you find clear, reliable information about what to expect. We've developed this guide with categories of information you may want to consider, based on academic and clinical training and conversations with hundreds of caregivers.
The information below is targeted at parents or other caregivers of children who have been genetically diagnosed with Cohen syndrome.
As you read the guide, keep in mind that every child is different. Your family's experience may not look exactly like anyone else's, and an understanding of your child's individual history is crucial to making informed decisions for their care.
Your First Steps
What to try to get done in the first 30 days after receiving a diagnosis of Cohen syndrome:
- 🧬 Consult a genetic counselor, if you haven't already, to understand your child's Cohen syndrome diagnosis and what it means for your family
- 📲 Begin collecting and organizing medical records in one place; this will save time at every future appointment (Citizen Health can help!)
- 👩⚕️ Ask your child's doctor which specialists should be on the care team and get referrals started (wait times can be long)
- 📃 Create a one-page medical summary with diagnosis, medications, and emergency contacts for appointments
1. Understanding a Cohen Syndrome Diagnosis
Receiving a diagnosis of Cohen syndrome for your child can help explain why certain medical problems have occurred. A diagnosis can give some perspective on additional medical management recommendations or other potential medical issues that you and your doctors should monitor moving forward.
What is Cohen Syndrome?
Cohen syndrome is a rare genetic condition caused by changes in a gene called VPS13B (sometimes written as COH1). Think of genes as instruction manuals that tell your body how to grow and function. The VPS13B gene helps move and organize important proteins within cells. When this gene isn't working as it should, it can affect several areas of the body, particularly development and learning, vision, muscle tone, and the production of certain blood cells.
Top resources for finding accurate medical information on Cohen syndrome
Resources written for the general public
- Genetic and Rare Diseases Information Center (GARD): Cohen syndrome
- MedlinePlus: Cohen syndrome
- National Organization for Rare Disorders (NORD): Cohen Syndrome
Science-heavy resources targeted at clinicians:
Should I get a second opinion for a Cohen syndrome diagnosis?
Rare diseases require specialized expertise. Consider seeking a second opinion from a physician who focuses specifically on your child's condition. A fresh perspective can confirm the diagnosis, reveal additional treatment options, or simply provide reassurance about your care plan.
For many rare diseases, it can be hard to find a specialist with relevant experience. You can try asking providers you have seen, referring to community resources (see Section 5 below), or consulting a genetic counselor.
What does a genetic counselor do when my family has received a Cohen syndrome diagnosis?
Certified Genetic Counselors have completed a program of study focused on understanding and providing information about genetic disorders. A genetic counselor can help you understand the genetic aspects of your child's diagnosis, what it means for your family, and whether testing is recommended for siblings or other relatives.
Genetic counseling can take place in person or in a telemedicine visit. The National Society of Genetic Counselors offers a tool for finding a genetic counselor.
Should other family members undergo genetic testing for Cohen syndrome?
Cohen syndrome is inherited in what's called an "autosomal recessive" pattern. This means that to have the condition, a child needs to inherit a non-working copy of the VPS13B gene from both parents, not just one.
Most parents of children with Cohen syndrome are "carriers." Being a carrier means someone has one working copy of the gene and one non-working copy. Because carriers have a working copy of the gene, they're typically healthy and often unaware they carry the non-working copy.
When both parents are carriers, with each pregnancy there is:
- A 25% chance the child has Cohen syndrome (inherits two non-working copies of the VPS13B gene)
- A 50% chance the child is an unaffected carrier, like the parents (one working copy, one non-working copy of the VPS13B gene)
- A 25% chance the child inherits two working copies of the VPS13B gene and is not a carrier
Sometimes, the genetic change happens for the first time in the child and the change was not passed down from either parent. We call this a 'de novo' (new) change. In these cases, the chance of the genetic change happening again in a future pregnancy is very low, generally <1%.
Your genetic counselor can help figure out whether testing makes sense for parents, siblings, or other family members, and can walk you through what your child's genetic testing results mean for your family.
2. Managing Your Child's Cohen Syndrome Medical Care
After a diagnosis, many families find themselves suddenly navigating a complex medical system with new providers, appointments, and decisions. It can feel like you're expected to learn a new language overnight.
Many genetic conditions affect multiple body systems, meaning children with rare neurodevelopmental conditions often need care across multiple specialties, and families may end up acting as the main point of connection between them.
Staying organized and informed—including about research opportunities—can help you advocate for your child and ensure nothing important gets missed.
What should I ask my child's care team about a Cohen syndrome diagnosis?
Knowing what to ask can help you make the most of appointments with specialists. You can use these questions as a guide to discuss care that is specific to your child's diagnosis.
For questions specific to your child's situation, Citizen Health offers a free doctor's appointment preparation tool that incorporates your child's rare disease medical records and provides appointment preparation suggestions through an AI chat interface.
What symptoms should we monitor for Cohen syndrome?
Cohen syndrome can look different from child to child, but there are several things your care team will want to keep an eye out for over time:
- Vision: Many children with Cohen syndrome develop nearsightedness (difficulty seeing things far away) starting in early childhood, and it can be significant. Over time, the retina (the light-sensitive tissue at the back of the eye) can gradually change, which may affect night vision and side (peripheral) vision. Regular eye appointments are an important part of care.
- Blood cell counts: Most individuals with Cohen syndrome have lower-than-usual levels of a type of white blood cell called neutrophils (also called neutropenia). Neutropenia can make the body less able to fight off infections and is linked to recurring mouth sores.
- Development and personality: Developmental delays and some degree of intellectual disability are associated with Cohen syndrome. Each child's development will be unique to them. Speech and language often take longer to develop. One thing many families and researchers have noticed is that children with Cohen syndrome tend to have warm, cheerful, and social personalities.
- Muscle tone and movement: Low muscle tone (sometimes called "floppy" muscles, or hypotonia) is common from early on and can affect how and when a child hits motor milestones. Joints may also be more flexible than usual.
- Growth and physical features: Head size may be smaller than average and can become more noticeable over time. Some children develop a pattern of weight gain around the midsection with slimmer arms and legs, typically in mid-childhood. Some children also have distinctive facial features such as a prominent nose, larger ears, or widely spaced teeth.
- Spine: Because joints tend to be flexible, some children develop curvature of the spine (scoliosis) or rounding of the upper back (kyphosis).
What is the expected progression of Cohen syndrome?
Cohen syndrome is a lifelong condition, and what it looks like changes over time. Here is a general sense of what many families experience, keeping in mind that every child is different:
- In infancy and early childhood, low muscle tone and developmental delays are often among the first things parents and doctors notice, sometimes alongside characteristic physical features.
- Through childhood, learning differences and speech delays tend to become clearer. Vision challenges, especially nearsightedness, often emerge and gradually worsen. Recurring infections or mouth sores related to low white blood cell counts may also become a pattern.
- In adolescence and adulthood, changes in body shape (weight around the midsection) often develop. Vision can become more affected over time, with night vision and side vision being particularly impacted. Spinal curvature may also become more pronounced and may need attention.
Because Cohen syndrome is rare, there isn't as much long-term data as there is for more common conditions, so it's hard to make broad statements about life expectancy. What we do know is that many individuals with Cohen syndrome live into adulthood, and with good medical support and a strong community, they can lead full and connected lives. The warmth and sociability that are so characteristic of Cohen syndrome are a real and enduring strength.
What treatments are available for Cohen syndrome?
There is currently no cure for Cohen syndrome, but there is a lot that can be done to support your child's health, development, and quality of life. Care is highly individual; what your child needs will depend on how Cohen syndrome is affecting them specifically.
In general, management focuses on each area of the body involved:
- Vision: Glasses are typically needed from early childhood, and low vision support becomes increasingly important as vision changes over time.
- White blood cell counts: Neutrophil levels are monitored regularly, and in some cases a medication given by injection can help the body produce more white blood cells. When infections occur, your child's doctor will guide treatment. It's worth knowing that some common medications can affect white blood cell counts.
- Developmental therapies: Aid in motor development, communication, and learning.
- Spine and joints: Spinal curvature is monitored and treated if needed.
What healthcare providers should be on my child's care team for Cohen syndrome?
Your child's Cohen syndrome care team is the group of providers who work together to support your child's health, development, and quality of life.
Cohen syndrome affects multiple body systems, so your child's care team will likely extend well beyond a single doctor, and building it early matters, as waitlists for specialty and therapeutic services can be long.
Your team will likely include an eye doctor (ophthalmologist) to monitor vision, prescribe glasses, and manage changes to the retina over time, a blood specialist (hematologist) or immune system specialist (immunologist) to monitor white blood cell counts and help manage infection risk, a neurologist to support developmental concerns and muscle tone, and a bone and joint specialist (orthopedist) to monitor the spine and joints. A geneticist can help coordinate overall rare disease management.
Therapeutic providers are equally important: a physical therapist (motor skills and muscle tone), occupational therapist (daily living skills and fine motor development), and speech-language pathologist (communication and feeding) may all be part of your child's team. A behavioral therapist or psychologist may also provide valuable support.
Your pediatrician plays an important coordination role. Ask them which referrals make sense for your child's specific needs at each stage. For more on therapy services, see Section 3.
Finding clinical trial opportunities & supporting research into Cohen syndrome
When you participate in research, you help your child and other families in the future. Medical research studies can be very different from each other. Some test new treatments, while others are "natural history studies" that just collect information about a disease's impact over time.
Clinical trials are research studies that help doctors find new treatments. Some trials test new medicines or therapies that aren't available yet. Even if you may choose not to participate, it can be good to know what options exist for your child's condition. Your child's doctor or disease organization can help you find trials that might be a good fit. The U.S. government also maintains a registry at clinicaltrials.gov
Natural history studies are designed to help researchers learn more about the condition. This information is important for creating future treatments. Traditional natural history studies can involve additional medical appointments over the course of several years.
Patient registries collect health information from people with specific diseases to help research move faster and connect families with clinical trials. Registries also show researchers and drug companies that families are engaged and want to help develop new treatments, which can bring more funding and research attention to a disease. Some diseases have more than one registry you can join. Patient Advocacy Groups typically establish and maintain patient registries for specific rare diseases. (See Section 5 below to learn more).
Organizing and maintaining your child's medical records for Cohen syndrome
Cohen syndrome patients see many different doctors, often across different medical and technological systems that may not talk to each other. Unfortunately, that means the burden often falls on caregivers to track care holistically, identify "gaps," and make sure nothing gets missed. Keeping your records as organized and centralized as you can from early on is likely to improve your ability to manage your child's care down the road.
You can start by creating a one-page sheet with your child's diagnosis, current medications, allergies, and emergency contacts. Bring this sheet to every appointment. It can really help in emergencies or when you see a new doctor.
Many caregivers establish one (or several) records binder(s) in which they keep track of appointments, medication updates, symptoms, and other ongoing medically relevant information.
We also encourage caregivers to consider Citizen Health's free tools for centralizing, managing, accessing, and extracting key information from health records. Our system will collect all your health records, across doctors and health systems, making them available on our secure online platform that can provide answers in real time based on questions you ask (like "What medications has my child been prescribed in the past year?" or "When did we last see an orthopedist?")
As a company built by rare disease caregivers, we aim to overcome the need for physical records binders. But ultimately the important question is what works for you and your family.
Thousands of caregivers use Citizen Health.
3. Developmental Therapies, Education & Daily Support for Children with Cohen Syndrome
Caring for a child with a rare genetic disease involves more than doctor visits. Alongside medical care, your child may benefit from therapies, educational services, and practical support that address development, communication, mobility, and daily functioning. These services often begin early and evolve as your child grows, moving from early intervention into school-based support and beyond.
The right therapies, educational plans, and adaptive tools can make a meaningful difference in your child's learning, independence, and quality of life; and yours.
Before age 3: Understanding early intervention services for children with Cohen syndrome
Early intervention provides therapies and support for children from birth to age 3 who have delays or disabilities. Services may include physical therapy, occupational therapy, speech therapy, and other developmental support.
Every state has an early intervention program, and you can ask for an evaluation even if your child doesn't have a formal diagnosis yet. In some states, early intervention programs are called "birth to three", "early steps", or "first steps".
It's never too early to search for early intervention services in your state. Learn more from ECTA, the Early Childhood Technical Assistance Center.
3 & up: School services for children with Cohen syndrome
IEPs and 504 plans
When your child turns 3, they move from early intervention to school-based services. An Individualized Education Program (IEP) is a legal document that describes the special instruction, therapies, and support your child needs to learn at school.
A 504 plan provides accommodations for students who don't need special instruction but need support because of a disability. Understanding your rights and these plans helps make sure your child gets the right services throughout their school years.
Communicating with your school
Building a good relationship with your child's school team is important. You know your child better than anyone, and that knowledge is incredibly valuable. Come to meetings prepared with information about your child's needs, share your concerns and hopes openly, and never hesitate to ask questions if something isn't clear.
A note on vision in school settings
Progressive vision loss is a major feature of Cohen syndrome. Make sure your school team is aware of your child's visual needs, including any low vision accommodations (large print, preferential seating, specialized lighting). Work with your ophthalmologist and vision therapist to communicate your child's changing needs to educators as they evolve.
You are an equal and essential member of this team. Other members of your Cohen syndrome community can also be valuable resources for navigating your child's school experience.
Assistive devices and equipment for Cohen syndrome
Depending on your child's needs, assistive technology and adaptive equipment can help with independence, communication, and quality of life. This might include communication devices (Augmentative and Alternative Communication or AAC), low vision aids, magnification devices, and specialized glasses, positioning supports and orthotics for joint and spinal needs, or adaptive toys and tools. Your therapists can recommend the right devices, and many are covered by insurance or available through school programs.
Some devices and equipment can be expensive but can very often be covered by insurance. If coverage is denied, be sure to talk to your doctors about writing an appeal letter or a Letter of Medical Necessity. These documents can be critical for getting insurance coverage for devices and equipment.
Respite care
Caring for a child with complex medical needs is hard work, and taking breaks is important for your health and your family's wellbeing. Respite care provides temporary relief, giving you time to rest, handle other responsibilities, or just recharge. Options range from a few hours with a trained caregiver to overnight or weekend programs.
Respite isn't a luxury. It's a necessary part of taking care of your family long-term. The non-profit Access to Respite Care and Help (ARCH) provides guidance on how to find a respite care provider.
Building your support systems as a Cohen syndrome caregiver
Being a caregiver to a child with Cohen syndrome is a heavy responsibility. You can't do it alone, and you don't have to. Building a network of support including family, friends, medical providers, therapists, other parents, and community resources, creates a safety net for hard days as well as people to celebrate victories with.
When asking for help, it helps to be specific: people want to support you but often don't know how. Whether it's meals, watching your other children, or just someone to listen, letting others help is good for everyone.
Don't forget about support for other family members! If your child has siblings check out the Sibling Support Project.
4. Insurance Navigation & Financial Assistance for Children with Cohen Syndrome
Navigating the financial aspects of your child's care can feel overwhelming, but understanding your options can help you access the resources your family needs.
As health care costs for Cohen syndrome are often more than what insurance typically covers, it is essential to explore all assistance programs available. Your child may qualify for Medicaid through special pathways for children with disabilities, even if your family's income wouldn't normally make you eligible.
Knowing and documenting what your insurance covers, from therapy visits to treatment, may help you navigate potential denials and appeals. Hospital staff called financial counselors can guide you through coverage questions, and federal laws like the Genetic Information Nondiscrimination Act (GINA) offer some legal protections against unfair treatment.
Medicaid and Social Security eligibility for Cohen syndrome
Even if your family income exceeds typical Medicaid limits, children with Cohen syndrome may qualify for Medicaid through special pathways designed for those with disabilities or significant medical needs.
A program called Katie Beckett or TEFRA waivers allows children with disabilities to qualify for Medicaid based on their own income rather than family income. Additionally, children with significant functional limitations may qualify for Supplemental Security Income (SSI), which provides monthly payments and often automatically qualifies them for Medicaid. These programs can provide crucial coverage for therapies, equipment, and services private insurance won't cover.
Learn more about Medicaid in your state through this interactive map from NORD.
ABLE savings accounts for Cohen syndrome
On that note, if your child qualifies for SSI, they may also be eligible for an ABLE (Achieving a Better Life Experience) account. ABLE accounts are tax-advantaged savings accounts specifically designed for people with disabilities that are opened in a child's name but do not count against the $2,000 asset limit that typically applies to programs like SSI and Medicaid. Find out more at ablenrc.org.
Understanding your insurance coverage for Cohen syndrome
What's covered
- Your insurance policy determines what services, therapies, equipment, and medications are covered for your child. Start by reading your plan documents to understand your benefits, deductibles, co-pays, and out-of-pocket maximums. Call your insurance company's customer service or case management department as many insurers assign case managers to children with complex medical needs who can help you understand your coverage.
- Don't assume something isn't covered until you've asked. Many families are surprised to learn what benefits are available when properly documented.
- Keep notes of every call you make, including the date, time, person you spoke with, and what they said. This documentation can be very helpful later.
- Most children's hospitals also have a financial counselor or patient navigator who may be able to help with insurance or financial coverage issues.
Therapy & rehabilitation
- When considering insurance coverage for therapies and rehabilitation services, make sure to see if your plan has a cap for the number of therapy visits per year. Many children with complex needs will exceed that cap and appeals or additional insurance coverage plans may be needed.
Medical equipment
- If your child needs durable medical equipment such as orthotics, or at home equipment, getting insurance coverage for that equipment will likely require prior authorization or a letter of medical necessity.
Denials & appeals
- Insurance companies often deny coverage for therapies, equipment, or medications at first but denials can often be overturned with the right documentation. If coverage is denied, you have the right to appeal, and many families win their appeals.
- An effective appeal letter includes: your child's diagnosis and how it affects their daily life, specific medical reasons from doctors explaining why the service or item is necessary, references to your insurance policy language that supports coverage, research or medical guidelines supporting the treatment, and a clear request for reconsideration. Many patient organizations and hospital financial counselors can help you write strong appeals. You can even appeal multiple times, and many families win on their second or third attempt. You're advocating for your child, and persistence often pays off.
Non-discrimination protections for Cohen syndrome
The Genetic Information Nondiscrimination Act (GINA) is a federal law that protects you from genetic discrimination in health insurance and employment. Health insurance companies cannot use genetic information to deny coverage, raise your premiums, or determine eligibility. However, GINA does not cover life insurance, disability insurance, or long-term care insurance. Employers cannot use genetic information when making hiring, firing, or promotion decisions. Understanding these protections can give you confidence in pursuing genetic testing and sharing results with your child's healthcare providers without fear.
Learn more about these protections from the American Society of Human Genetics.
Caregivers use Citizen Health to draft insurance appeals — Saving hours while getting results.
5. Finding Your Cohen Syndrome Community
You don't have to navigate your child's Cohen syndrome journey alone. While each individual rare disease affects a small number of people, millions of families are living with rare diseases of some kind.
Other caregivers can offer practical advice and emotional understanding that comes from walking the same path. Patient advocacy groups and rare disease communities can also help you stay informed, advance research, and feel part of something larger.
Why connect with other Cohen syndrome families?
Finding and connecting with families who have walked in your Cohen syndrome shoes can be life-changing. Other parents navigating the same diagnosis can offer practical advice, emotional support and hope based on their shared experience. They can understand the daily challenges and the victories, big and small, in ways that others can't. Disease-specific communities often become a lifeline and a source of hope that remind you that you are not alone.
Local Cohen syndrome support groups
Your genetic counselor or other healthcare provider may be able to connect you with local families in your area. It is totally appropriate to ask your providers if they know of any local families who might be willing to connect with you for a phone call or even a play date.
Some rare diseases are so exceptionally rare that it might not be possible to connect locally with another person with the same rare disease. But collectively, rare diseases are not that rare! Connecting with broader rare disease groups is another great option. Many states and communities have organizations that support all rare diseases.
Patient advocacy groups (PAGs) specific to Cohen Syndrome
Patient advocacy groups exist for many rare diseases and serve as a central hub for connections, reliable information, research updates and advocacy efforts. These organizations work to advance research, improve care standards, raise awareness, and support families. They often host conferences, maintain family directories or registries, fund research, provide educational resources, and fight for policies that benefit the community.
Connecting with your disease's advocacy organization gives you access to experts, researchers, and a network of families while contributing to the larger mission of finding treatments and cures.
One example of a PAG is the Cohen Syndrome Research Foundation (CSRF). The CSRF focuses specifically on supporting research to improve the lives of individuals with Cohen syndrome. They have partnered with UCLA's Autism Intervention Research network on Physical Health (AIR-P) to form the Cohen Syndrome Working Group: a team of experts working to consolidate knowledge and support physicians. Citizen Health has partnered with the Cohen Syndrome Research Foundation, learn more here.
Additional resources for finding advocacy groups:
- https://www.simonssearchlight.org/
- https://globalgenes.org/rare-list/
- Search on Facebook — many PAGs organize in Facebook Groups
Disease-specific conferences and events
Many patient advocacy groups will help spread awareness through conferences and events. These can include in person events or online events and are great opportunities to connect with others and to stay on the cutting edge of new research opportunities.
The DDC Clinic: Center for Special Needs Children hosts a Cohen Syndrome Family Gathering that brings together families affected by Cohen syndrome to learn about new developments and connect with one another. Attending a conference focused on your child's condition can be transformative; these gatherings bring together families, researchers, doctors, and advocates in one place.
Many families describe their first conference as the moment they felt less alone. While attending may require travel and expense, many organizations offer scholarships or financial assistance to help families participate. If you can go, it's often worth it.
Citizen Health partners with over 100 patient advocacy groups to build toward better answers and support research.
Looking Ahead
A Cohen syndrome diagnosis introduces new responsibilities, decisions, and systems that families are unsure of how to navigate. Although this page includes a lot of information, which can be overwhelming at times, we hope that you can return to it as a resource as you navigate this journey.
There's no fixed sequence for moving forward. Needs evolve. Priorities shift. Progress comes less from having all the answers and more from access to reliable information, coordinated care, and meaningful connections. With knowledge, organization, and support, you can make informed decisions, adapt as circumstances change, and move forward with confidence; even when the path is uncertain.
And don't forget that caregiving includes taking care of yourself and of other family members too. Don't be afraid to ask for help in tough moments—everyone needs it from time to time!
Just by taking time to learn more about the rare disease process and next steps, you are already taking steps to better care for your child.
Key Takeaways
Navigating a Cohen syndrome diagnosis doesn't happen all at once; it's a journey that unfolds over time. Focus on five key areas:
- Understanding your child's condition through reliable sources and genetic counseling
- Coordinating medical care and staying organized with records
- Accessing therapies and educational services that support your child's development
- Navigating insurance and financial assistance
- Connecting with other families and patient advocacy groups (PAGs).
Progress comes from taking one informed step at a time, building your support network, and advocating for your child with confidence—even when the path feels uncertain. Tools like Citizen Health's AI Advocate can help lighten the load by organizing medical records, preparing for appointments, and even drafting insurance appeals, giving you more time to focus on what matters most—your child.
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