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UnderstandingCDKL5what this diagnosis may mean for your childand what you can dodeficiency disorder© 2024 CDKL5 in ColorWritten & designed by Marissa Bishop Message
A diagnosis changes everything, and nothing.When you learn that your child has a mutation on the CDKL5 gene that islikely causing their symptoms, you may feel relieved that the diagnosticjourney is finally over. You may feel shattered by the results. Or you mayhave a variety of other feelings that seem to change by the day.However you feel, we get it.Whether your feelings are pleasant (relief, motivated, gratitude) orunpleasant (shattered, despair, heartbroken), know that you are notalone. There are people all over the world whose children are living withCDKL5 deficiency disorder. And while this life has challenges andheartache, it also has joy. You just have to find it.This eBook is for you, our fellow CDKL5 moms and dads. It is intended togive you an introduction to CDKL5 deficiency disorder in an easy-to-readformat. Perhaps the information you learn here will help you havediscussions with your child’s medical team or give you language you canuse when sharing the diagnosis with your friends and family.You don’t have to face this diagnosis on your own. You can find membersof our CDKL5 community all over social media, in medical publications,online, and sometimes even in your own backyard. If you need helpconnecting, please let us know. Chances are we can help.We get it.© 2024 CDKL5 in ColorThis eBook is not intended as medical advice. Always consult your doctor.
CDKL5 stands for cyclin-dependent kinase-like 5The CDKL5 gene is located on the X-chromosome.Mutations in this gene were first identified asdisease-causing in 2004.Quick factsThe CDKL5 gene provides instructions for making proteins thatare critical for healthy brain development and function.Because of its location on the X-chromosome, more femalesthan males are affected.CDKL5 deficiency disorder (CDD) is considered a rare diseasebecause it impacts fewer than 200,000 people in the US.It is part of a group of rare diseases called developmental andepileptic encephalopathies (DEEs). Patients with DEEs haveepileptic activity (seizures) as well as neurodevelopmentaldisabilities.CDD is known for its early-onset epilepsy andneurodevelopmental disabilities in the areas of motor skills,communication, cognition, and vision.The symptom list for CDD is long, and patients tend to havelarge medical, therapeutic, and educational teams addressingthe variety of symptom areas.CDKL5CDKL5 deficiency disorder© 2024 CDKL5 in Color
EPILEPSY - Seizures in CDD are really hard to treat and totalseizure freedom is unlikely. There are treatments to try tomanage the seizures, but (unfortunately) something that worksmight stop working over time. Infants with CDD will likelydevelop a specific seizure type called infantile spasms. You’llfind videos of what this looks like on YouTube. Spasms may notfully resolve in CDD and it is not uncommon for them tocontinue into childhood (then called epileptic spasms).Patients with CDD can face many different types of seizures.Your neurologist can help you understand what types ofseizures your child is dealing with. The Epilepsy Foundation isalso a good resource for understanding seizures and treatmentoptions. Many patients with CDD go on to develop a clinicalepilepsy syndrome called Lennox-Gastaut Syndrome or LGS.This diagnosis may open up opportunities for increased accessto treatments or clinical trials.SymptomsMOTOR SKILL DEFICITS - Patients with CDD generally starttherapy in infancy because it is clear early-on that their motorskills are delayed. Gross motor skills are things like headcontrol, sitting, standing, and walking. Fine motor skills arethings like grasping, reaching, and holding things. It won’t beclear what motor skills your child will achieve simply byknowing their CDD diagnosis. Good advice is to not put limitson your child and instead believe that they may exceed main© 2024 CDKL5 in Color
CORTICAL VISUAL IMPAIRMENT (CVI) - It may be obvious toyou that your child doesn’t see properly, or you may beunconcerned about their vision, but please know that CVI isseen in most patients with a CDD diagnosis and it should beassessed for in all patients. CVI is a brain-based visualimpairment. The brain has trouble interpreting what the eyesare seeing. The good news is that CVI can improve with therapyand adaptations. CVI NOW from Perkins School for the Blindhas fabulous resources. Your state services for the blindshould also have resources and support for your child. Manyparents enjoy reading Little Bear Sees, a story about a childwith CVI and their journey with vision.COMMUNICATION DEFICITS - Patients with CDD are unlikelyto have typical expressive communication. In fact, most arenon-speaking. It is important to remember, however, thatverbal speech is not the only way a person can communicate.Your child with CDD will communicate with you in their ownway and you will intuit much of what they want and need overtime. Other CDD parents have expressed frustration at notbeing able to know how to help in times when their child isdistressed. In those times, look for cues to see if something ismedically wrong (think UTI, ear infection, etc). And giveyourself and your child grace. As frustrated as you are, theyare likely just as frustrated that they cannot tell you what theyneed. Learn about AAC (Augmentative and AlternativeCommunication) and AT (Assistive Technology) and engage aspeech language pathologist for help.expectations! Progress in therapy takes time and you may feelfrustrated or want to give up. Remember it’s a marathon, not asprint. Try not to pressure yourself or your child.© 2024 CDKL5 in Color
MEDICAL AND OTHER COMPLEXITIES - CDKL5 deficiencydisorder affects multiple body systems and time will tell whatmedical complexities your child may be faced with. It is a goodidea to have a basic understanding of the disease and whatchallenges you might face.Have a look at the following resources to increase your knowledgeof CDD:International Consensus Recommendations for theAssessment and Management of Individuals With CDKL5Deficiency Disorder GeneReviews: CDKL5 Deficiency DisorderNational Organization for Rare Disorders (NORD): CDKL5Deficiency DisorderInternational Foundation for CDKL5 Research (IFCR):About CDKL5© 2024 CDKL5 in ColorPALLIATIVE CARE - CDD is life-long, and you’ll face many choicesalong the way. You’ll want to focus on what quality of life meansfor your family. Palliative care is a resource for families living withchronic conditions. It is not end-of-life care (that’s called hospice).The Courageous Parents Network offers families information onmany aspects of caregiving medically complex children, includingwritten, audio, and video content on palliative care from a varietyof perspectives. Ask your medical team if palliative care isavailable to help you advocate for your child.a note about
There are some common questions that come up in our CDDcommunity. While we don’t have all the answers, here are somethoughts:What seizure meds are the best for CDD? Unfortunately, thereis no clear answer to this question. Finding what works for yourchild is a frustrating process of trial and error.How long do I wait to see if a seizure med works? This is a goodquestion to ask your neurologist when starting a medication. Itis possible that you will begin to see patterns in your child asthey grow.If I get pregnant again, will my child have a higher likelihood toalso have CDD? This depends on your genetics (get geneticcounseling!), but if your child’s CDKL5 mutation is “de novo” (asmost are) then it is unlikely that future pregnancies will havethe mutation.Should my child get a feeding tube? If you are asking yourselfthis question, the answer is probably yes. The decision to get afeeding tube is often a harrowing one, but once it is placedmost people end up kicking themselves for waiting so long!Can I handle this? Yes, you can! Really! Some days will be hard.Really, really hard. But every day you wake up is a day yousurvived the day before. And with time you’ll become smarterand more resilient. Also, therapy can help you.FAQs© 2024 CDKL5 in Color
ResearchParticipating in research is a great way to help advance thecause! There are opportunities to participate in clinical research(understanding more about a disease and its symptoms) andinvestigational research (seeing if a treatment/medication issafe and effective).You can learn what research studies are available for patientswith CDKL5 deficiency disorder by visiting www.clinicaltrials.govand searching “CDKL5.” A search for “Lennox-Gastaut Syndrome(LGS)” or “pediatric epilepsy” might also prove useful.See something you are interested in? Reach out to the studycontact. This person can answer enrollment questions andprovide more information on what you can expect if you join.International CDKL5 Disorder DatabaseWe’d love to give a shout-out to two long-time CDKL5researchers whom we love - Drs Helen Leonard and JennyDowns. We encourage you to enroll in their International CDKL5Disorder Database. Information from this special database hasbeen collected since 2012 and has informed many importantpublications about CDKL5 deficiency disorder. Once you enroll,you’ll likely get a phone call from Australia! We think you’ll find ita treat to talk to these special ladies!© 2024 CDKL5 in Color
CDKL5:International Foundation for CDKL5 Research (IFCR) - thelargest patient group for CDDCDKL5 Alliance - a collaborative of many CDD groups fromaround the worldLouLou Foundation - private foundation engaging in a hugeamount of CDD researchEpilepsy:DEE-P Connections - tons of webinars relevant to caring forsomeone with a developmental and epileptic encephalopathyLGS Foundation - many patients with CDD also meet thecriteria for a diagnosis of Lennox-Gastaut SyndromeRare Disease:National Organization for Rare Disorders (NORD) - find rareaction groups in your stateOnce Upon a Gene Podcast - listen to inspiring stories from awide variety of people in rare (episode 127 is a CDKL5 mama!)Rare Parenting Magazine - medically-backed, professionallywritten advice for parents of children with disabilities, rarediseases, and complex needsLinks© 2024 CDKL5 in Color
linkedinLet’s be friendsCDKL5inColor@gmail.comQuestions? Interested in being on our podcast?© 2024 CDKL5 in Colorinstagram facebook