What to do next when your child has been diagnosed with a CDKL5-Related Disorder

What are CDKL5-related disorders?

CDKL5-related disorders are rare neurodevelopmental conditions caused by spelling changes in the CDKL5 gene. Genes are the instructions our bodies use to grow and work properly.

The CDKL5 gene is responsible for creating proteins that control how our brain works and develops. Spelling changes in the CDKL5 gene can disrupt this control, leading to differences in the brain (called encephalopathy). These differences can include developmental delays, seizures, and movement problems.

Other names you may see for this condition: CDKL5 deficiency disorder or Cyclin-dependent kinase-like 5 deficiency disorder, CDKL5-related developmental and epileptic encephalopathy. All of these names refer to health problems caused by non-working copies of the CDKL5 gene.

Top resources for finding accurate medical information on CDKL5-related disorders

Resources written for the general public

• Boston Children's Hospital: CDKL5-related disorders
• Children's Hospital of Philadelphia: CDKL5-related disorders
• National Organization for Rare Disorders: CDKL5-related disorders

Science-heavy resources targeted at clinicians:

• National Library of Medicine: CDKL5-related disorders
• OMIM: CDKL5-related disorders
• Epilepsy and Behavior: CDKL5-related disorders

Should I get a second opinion for a CDKL5-related disorder 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 CDKL5-related disorder 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 a CDKL5-related disorder?

In many cases, CDKL5-related disorders happen for the first time in a child, called de novo. A de novo condition means the non-working gene was not passed down from either parent. When this happens, the chance for another child in the family to have the same genetic change is usually low (under 1%).

In other cases, a CDKL5-related disorder is inherited: a parent passes down a non-working copy of the CDKL5 gene to their child. The CDKL5 gene is located on the X chromosome. Because females (XX) have two X chromosomes and males (XY) have only one, this type of inheritance (called X-linked) follows a specific pattern: a female with a non-working CDKL5 gene copy has a 50% chance of passing it down to any child, while a male with a non-working CDKL5 gene copy can only pass it down to daughters, not sons. A genetic counselor can help explain what this information means for your family and whether testing is recommended for siblings, parents, or other family members.

*A note on language: "Male" and "female" above refer to chromosomal sex (XY and XX) - not gender identity, which is separate and doesn't always align with a person's chromosomes. If you have questions about how this applies to your own family, a genetic counselor can help walk through it with you. Learn more here.

What should I ask my child's specialists about a CDKL5-related disorder 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 medical records and provides appointment preparation suggestions through an AI chat interface.

What symptoms should we monitor for a CDKL5-related disorder?

Every child with a CDKL5-related disorder will have their own experience. There are a few features that have been seen in many individuals with CDKL5-related disorders, though not every child will experience all of these, and how much each feature affects your child can vary. It is a good idea to partner with your child's care team to identify any differences in development or health.

Generally, the following features are reported to be associated with CDKL5-related disorders:

Core features:

• Developmental delays (when a child reaches milestones like walking or talking later than expected)
  • Motor and speech/language development are often involved
• Cognitive differences (including intellectual disability with a range of mild to more significant depending on the child)
• Seizures (epilepsy is the name for chronic or repetitive seizures - the types of seizures experienced by each person vary and may change over time)
  • Seizures tend to be early onset, meaning happening within the first few months of life
• Encephalopathy (a difference in brain structure or function, which can affect alertness and development, especially when seizures are happening)
• Sleep disturbances (trouble staying asleep or daytime sleepiness)
• Abnormal eye movements (such as rapid side-to-side movement) or eye response to bright lights (broadly called cerebral visual impairment)
• Low muscle tone (called hypotonia)
• Movement abnormalities (including stereotypies of hands (like putting the hands in the mouth), arms (like flapping or waving), or legs (leg crossing)
  • May also involve sudden, uncontrolled, dance-like movements called chorea or sustained, involuntary muscle contractions called dystonia
• Gastrointestinal difficulties like constipation or reflux
• Feeding difficulties
• Teeth grinding

Other features to be aware of:

• Respiratory problems (including breathing pauses, called apnea and infections in the respiratory system)
• Musculoskeletal abnormalities, including a curve of the spine (called scoliosis) and joint dislocations
• Heart differences or problems
• Behavioral difficulties or conditions (like autism or repetitive behaviors)
• Delayed growth

What is the expected progression of a CDKL5-related disorder?

CDKL5-related disorders are lifelong conditions, and every child's experience is different. For most individuals, the picture changes over time, so what things look like in early childhood may look quite different by adolescence. Here is a general sense of what families often encounter:

In the first years of life (infancy and early childhood)

Seizures are typically the first sign something is different, often beginning within the first few months of life and appearing in multiple forms that can shift as a child grows.

Many families find it worthwhile to connect with a CDKL5 Center of Excellence early on, since coordinating epilepsy care alongside everything else can otherwise mean a lot of separate appointments. Some children go through a temporary stretch of improved seizure control, sometimes called a "honeymoon period," though seizures usually return afterward. This is usually the time period when a care team really starts to take shape: a pediatric neurologist to guide seizure management, an early intervention team for therapy services, and, once a genetic diagnosis is in hand, a genetic counselor to walk through what your child's diagnosis is and what it means for the family.

Developmental delays affecting motor skills, communication, and vision-related processing are often noticeable during this window too, and early intervention (available from birth through age 3 in the U.S.) can bring in physical, occupational, and speech therapy. Some families appreciated meeting with a specialist in visual impairment if cerebral visual impairment is suspected, which can look like abnormal eye movements or a hard time with tasks that require visual focusing. Low muscle tone often affects feeding, so a feeding and swallowing evaluation is commonly part of evaluation early on. Disrupted sleep is common and may be worth discussing with your child's pediatrician or a sleep specialist.

Through childhood

As a child moves into the preschool and school-age years, care may expand into a broader team: physical, occupational, and speech therapists, a vision specialist if cerebral visual impairment is present, and an individualized education plan (IEP) team at school to make sure therapies and accommodations carry into the classroom. Feeding and nutrition support can become more structured during this stage, and some children have benefitted from a feeding tube being placed if oral eating isn't meeting their nutritional needs. Seizures tend to continue, though the specific types of seizures can change. Movement differences like stereotypies (putting the hands in the mouth, arm waving or flapping, or crossing the legs) or, less often, chorea (uncontrolled, dance-like movements) and dystonia (involuntary, sustained muscle contractions) may become more noticeable for some. Scoliosis surveillance often begins around this time, and can be monitored by your child's doctor. Gross motor, fine motor, and speech development continue to be affected to varying degrees, and progress is often measured in small, meaningful steps rather than by typical milestones.

In adolescence

During the teen years, care teams often begin talking about the transition to adult care. This can be a good time to start thinking through longer-term supports like guardianship, adult medical providers, and vocational or day program options as a child approaches 18. Which programs or supports may be beneficial in the future will be significantly different for each child. Ongoing surveillance for scoliosis, bone health, and joint mobility typically continues during these growth years. Seizure patterns from childhood can persist. Movement disorders can become more prominent for some and mobility (including walking or standing independently) can fluctuate.

In adulthood

Care in adulthood usually means shifting to an adult neurologist and adult primary care, while still coordinating the same wide circle of specialists as needed. Palliative or respite care support is worth having on the radar, since caregiving demands can persist. We are still learning about the full picture of adulthood with a CDKL5-related disorder, but research is underway and some trends have begun to emerge. Studies have shown seizures may remain frequent for many individuals, though some caregivers and physicians reported the overall seizure burden had eased somewhat compared to childhood, and a small group had gone seizure-free. Loss of previously gained skills (sometimes called regression) was reported in some adults, and ongoing physical and occupational therapy can help support skills and independence.

What treatments are available for a CDKL5-related disorder?

There is currently no cure for CDKL5-related disorders, but there are medications specifically approved to treat seizures associated with this condition (called Ztalmy®, specifically approved for individuals two years of age and older). Treatment often focuses on managing symptoms and supporting development, and care is highly specific to each individual. Talk with your child's doctor if you are interested in pursuing medication/learning about the options for your child. See Section 3 for more on developmental therapies.

Additionally, many families have found it helpful to pursue medical care at a CDKL5 Center of Excellence. These are clinics where providers from many different specialties come together in one centralized location to serve patients affected by CDKL5-related disorders, called multi-disciplinary clinics. Visit this link to learn more.

What healthcare providers should be on my child's care team?

Your child's CDKL5-related disorder care team is the group of providers who work together to support your child's health, development, and quality of life.

CDKL5-related disorders affect 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. All of the following providers may not be helpful depending on your child's specific needs, but here's a quick guide of providers you might meet and what they can help with.

Specialist Physicians

A geneticist is often a helpful hub for families navigating a rare disease diagnosis, especially when you're dealing with multiple specialists at once. A neurologist will likely be one of your important partners, especially for managing seizures and tracking your child's neurological/movement development over time. A developmental pediatrician can help pull together the big picture, coordinating evaluations and keeping an eye on how your child is growing and developing across different areas. A psychiatrist or psychologist with experience in intellectual disability can be a lifeline for managing behavioral challenges and anxiety. If your child experiences any differences in their eyes, an ophthalmologist can help. A gastroenterologist can help with feeding or nutrition difficulties. A cardiologist can help with any cardiovascular system differences or heart issues. Orthopedic specialists can step in if your child deals with any skeletal (bone/spine) or joint problems. Pulmonologists can help with breathing difficulties and assessing lung function.

Therapeutic Providers

A physical therapist can support your child's movement, muscle tone, balance, and motor skills. An occupational therapist focuses on everyday skills, fine motor development, and adaptive equipment. A speech-language pathologist can work on communication, including alternative and augmentative communication (AAC) methods, as well as feeding/swallowing. A feeding therapist or dieticians can provide specialized support if eating and swallowing are challenging. Behavioral therapists can help with emotional regulation and development of adaptive behaviors.

This is not a complete list, but it can serve as a starting point. Each child will have their own individual journey, and you can ask your child's doctor which providers make sense for your child's specific needs. For a deeper look at therapeutic services and how to access them, see Section 3.

Finding clinical trial opportunities & supporting research into CDKL5-related disorders

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.

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.

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.

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).

The Boston Children's Hospital has information on their website about current research and clinical studies being completed on CDKL5-related disorders. Visit their website at this link to learn more.

Organizing and maintaining your child's medical records for a CDKL5-related disorder

Rare disease 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.

Before age 3: Understanding early intervention services for children with a CDKL5-related disorder

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 a CDKL5-related disorder

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.

Communication is one of the most important areas to address with your child's school team. Some children with CDKL5-related disorders have limited or different speech and rely on AAC systems to express themselves and engage with learning. It's essential that your child's school team is trained on and actively uses the communication system your child depends on. An AAC device is only effective if everyone around your child is using it consistently, including teachers, aides, and therapists.

If your child has seizures, their school will likely create something called a Seizure Action Plan, a written document from your child's neurologist that tells school staff exactly what to do if a seizure occurs. Most schools are required to have one on file, and many states have specific laws about seizure management in schools.

You are an equal and essential member of your child's school team. Other CDKL5 families can also be a valuable resource for navigating school as many have experience advocating for support and are willing to share what worked for them.

Assistive devices and equipment for CDKL5-related disorders

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), mobility equipment, adaptive seating and positioning, or adaptive toys and tools. Your child's 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 CDKL5-related disorder caregiver

Being a caregiver to a child with a CDKL5-related disorder 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.

Medicaid and Social Security eligibility for CDKL5-related disorders

Even if your family income exceeds typical Medicaid limits, children with a CDKL5-related disorder 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 CDKL5-related disorders

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 CDKL5-related disorders

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 a wheelchair, walker, 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 CDKL5-related disorders

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.

Why connect with other CDKL5-related disorders families?

Finding and connecting with families who have walked in your rare disease 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 CDKL5-related disorders 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) for CDKL5-related disorders

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.

There are lots of resources online to help you find a patient advocacy group!

• https://www.simonssearchlight.org/
• https://globalgenes.org/rare-list/
• Search on Facebook — many PAGs organize in Facebook Groups
  • One existing PAG is the International Foundation for CDKL5 Research

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.

Attending a conference focused on your child's condition can be transformative. These gatherings bring together families, researchers, doctors, and advocates in one place. You'll hear about the latest research, learn from medical experts, meet families at different stages of the journey, and let your child connect with others like them.

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.