Living with CDKL5
CDKL5 Deficiency Disorder (CDD) is a rare genetic condition caused by mutations in the CDKL5 (Cyclin-Dependent Kinase-Like 5) gene. The CDKL5 gene provides instructions for making a protein that is essential for brain and neuron development. Mutations interfere with this process, causing seizures and a range of neuro-developmental disabilities impacting cognitive, motor, speech, and visual function.
No one knows exactly what causes the CDKL5 gene to mutate, but we do know this: it’s not your fault. You did not do anything during the pregnancy to cause this condition, and you couldn’t have done anything to prevent it.
The first symptom of CDD is generally the onset of seizures within the first weeks or months of life. From there, however, the range of symptoms is wide. The number of symptoms your child will experience, and the degree to which they experience them, will be unique to your child. In general, children experience a lack of muscle tone that impacts their ability to meet developmental milestones such as achieving strong head control, making eye contact, reaching for toys, walking, and talking. Problems with feeding and digestion are also a challenge due to weakness in the muscles responsible for chewing and swallowing. And, because early-on seizures often happen when the babies and toddlers are sleeping, sleep deprivation will likely be an issue for the whole family for quite some time.
What is CDKL5?
- Epileptic seizures starting early in life
- Epileptic spasms often occurring without hypsarrhythmia
- Multiple different types of seizures
- Inability to speak but may use complex gestures/vocalization
- Limited hand skills
- Cortical Visual Impairment
- Sleep difficulties
- Purposeless hand movements (stereotypies)
- Teeth-grinding (bruxism)
- Intellectual disability
- Breathing irregularities (such as hyperventilation)
- Respiratory infections
- Gastroesophageal reflux
- Behavioral symptoms such as anxiety and social avoidance
Some well-meaning doctors will tell you that your child will never walk or talk. It’s true that some won’t. However, some of our children have learned to walk and to communicate, and early therapeutic intervention can be helpful. The important message is: you don’t know yet what your child will or won’t be able to accomplish. Do not set limits before you start.
Caring For Someone With CDD
While there is no cure for CDD yet, it is also not imminently life threatening. Still, CDD is a complex medical condition with symptoms affecting numerous systems of the body and impacting several essential functions.
You are your child’s best advocate. It is important to find medical and therapy providers who will collaborate with you, answer your questions, and explain things in a way you can understand. Prepare a list of the questions and issues you want to address, and make sure all questions are answered before you leave an appointment. Don’t be afraid to ask the doctor or therapist to explain something again in a different way—it’s essential that you understand their advice and instructions and leave with everything that you need.
Keep a list of your child’s medical conditions and providers with their contact information. Have a system for keeping track of appointments and therapies. Keep a record of their daily schedule, including feeding, that can be seen by anyone who cares for them.
Our children require care from a broad range of medical specialists to manage symptoms and improve their daily lives:
Seizures in CDD are very difficult to control, so a reasonable goal is to manage, not stop, seizures. You should have a Seizure Action Plan so that everyone who cares for your child knows what to do when they have a seizure.
GI issues are common with CDD including constipation, acid reflux, diarrhea, and intestinal gas. Feeding issues are also common and sometimes a feeding tube is needed. You’ll likely have a gastroenterologist, speech and occupational therapists, and nutritionist on your team.
With CDD there is a risk of aspiration of liquids, food, or saliva and this can be quite dangerous. Lung infections, including viruses, can quickly become life threatening; seek medical help immediately for respiratory illnesses.
Cortical Visual Impairment (CVI) is common in CDD and impacts the brain’s ability to interpret visual information. There are visual exercises and accommodations that can be made to help with vision. Have a Teacher of the Visually Impaired on your team.
Our children require equipment to help them live their best lives. This can include a supportive wheelchair, bath chair, stander, and wearable supports like orthotics.
Sleep disturbance is common in CDD. Both medications and non-medical strategies (routine, weighted blankets) can help.
Therapies can have a tremendous impact on our children’s progress and quality of life. Some kids slowly learn to walk as a result of intensive physical therapy. It can take four or more years to reach major motor milestones, so if you think your child might achieve any goal you are working toward, don’t give up. Be patient and allow your therapy focus to shift, and do not be afraid to take a break or revisit certain skills later.
- Physical and Occupational Therapy
- To improve muscle tone and motor skills
- Speech Therapy
- To work on communication either orally or with technology
- Vision Therapy
- To improve the brain’s ability to interpret vision
Our children can go to school with the right support in place! Work to help your school system understand your child’s unique needs. Explore the options where you live and talk to other special needs families in your area to learn what is available.
Finding Your New Normal
“I accepted that things weren’t going to be how I thought, and I embraced what life is.” – a CDD parent
Accepting a CDKL5 Deficiency Disorder diagnosis requires us to let go of the idealized expectations we had for our children before they were born. Sometimes you’ll feel like your emotions are under control; other times a wave of sadness will wash over you unexpectedly. Some activities will turn out to be surprisingly painful. Give yourself permission to leave situations that are not suitable for you.
With a grueling schedule of doctor’s appointments and therapy sessions, CDKL5 parents are often in fix-it mode, but please don’t forget to enjoy your child. Don’t be afraid to continue activities you enjoyed, or to pursue any hopes and dreams you held prior to diagnosis. With adequate planning, you can learn to adapt to most any situation you encounter and continue to live life to the fullest.
A diagnosis of CDD will impact you and your family. It is critical to take care of yourself and find time for things that you enjoy. Maintain your own physical health. And ask for help before you need it.
Having a child with special needs can put a strain on a relationship. Take care of each other by sharing caretaking duties, giving each other needed time to rest and recharge, finding ways to laugh and have fun together, and keep communication open.
If you have other children, you’ll need to ensure they are coping as well. Young children will need simple, age-appropriate explanations for why their sibling’s brain and body do not function the same way theirs does. As they grow, children will ask deeper questions that signal they are ready to learn more. Children may also feel uncomfortable as they realize their home lives differ greatly from those of their friends at school. We’ve found that preparing them with easy-to-understand one-sentence descriptions of CDKL5 can help them quickly diffuse uncomfortable situations with other kids.
A marriage or family therapist can be a good resource to navigate all this life has to offer.
“It never gets easier, but it gets better. You get better at it. You find your groove.” – a CDD parent
This guide was created for you by a group of fellow parents. When many of our children were diagnosed with CDKL5 Deficiency Disorder (CDD), almost no comprehensive information existed. Thankfully, so much more is known about CDKL5 today, in part because of the work of the IFCR community. We hope this guide will serve as a starting point for you and your family as you begin your journey with CDKL5.