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Recent CDKL5 diagnosis? – We are here to help!

In an informal poll taken on our Facebook page, some of our IFCR parents spoke up about their first questions upon receiving the CDKL5 diagnosis and any words of comfort, advice, or wisdom that they found helpful. Here is what they answered in order of most frequently answered:

Parents I can relate to X X X

Treatment/medicine X X X
Life Expectancy X
Doctors X
Cure X
Live independently/future X
What does diagnosis mean
Where to go from here
Protein responsible
Likelihood of passing the gene to other children
Drug trials

Listed once means it was only used once, but each X is an additional time a CDKL5 parent or caregiver used that answer. We are thrilled that ‘Parents I can relate to’ is number one because that is how the IFCR was founded and we are here to provide a network of support and connections. We are going to briefly answer these questions in hopes of helping individuals and families just like yours. Thank you to those who participated in providing answers on Facebook, we appreciate you!

A diagnosis of CDKL5 is a complex medical situation. In general, most patients would benefit greatly from a multidisciplinary approach to care. The goal is to enrich patients’ and their families’ lives by helping them lead a life as normal as possible. Providing patients and families with timely and accurate information and support in the decision-making process is the top priority. It is important to find a Primary Care Physician and/or a Specialty Clinic (like a CDKL5 Center of Excellence or a Rett Syndrome Clinic) that can maintain a family-centered approach and foster a trusting relationship. Successful care starts with a healthy respect for the family, health care team, and other service providers. The following is a list of specialists that should be considered in each child’s multidisciplinary team:

• Neurology/Epileptology
• Physical Medicine and Rehabilitation
• Developmental Pediatrics
• Pulmonary
• Cardiology
• Orthopedic surgery
• Genetics
• Gastroenterology (GI)
• Behavioral psychology
• Nutrition

• Physical therapy
• Speech therapy
• Occupational therapy
• Nursing
• Social work

Life expectancy/cure:
At this time, there is not enough longitudinal data, to have a clear indication on life expectancy. As genetic testing becomes more affordable and accessible, we are seeing many infants, as well as middle-aged folks being diagnosed with CDKL5. IFCR is working with a variety of organizations, researchers and research models to try to rapidly advance this knowledge and find answers to these questions. Searching for a cure and discovering treatments are not mutually exclusive endeavors. There is currently millions of dollars supporting efforts to provide answers, treatments, and ultimately a cure.

We are proud to have three Centers of Excellence, located in the US, specializing in the clinical care of CDKL5 patients. CDKL5 Centers for Excellence are the only multidisciplinary clinics for the treatment of people, a majority of whom are children, with a CDKL5 Disorder (CDKL5). These centers serve as hubs for clinical research, can be partnered or part of a Rett Clinic, and will likely be where future clinical trials take place, as they become available.
Continue to follow IFCR for information on clinical advances, including drug trials. You can also find CDKL5 trial information and details, courtesy of the National Institute of Health, at https://

What does this mean and where to go from here:
Feel what you feel and don’t be apologetic. Needing to cry everyday for the first six months and being inconsolable is ok. Let that be ok. For a little while at least. Be as compassionate with yourself and your parenting partner if you have you have you as you would be with your child. Realistic expectations helped for many. Friends and relatives who cut the baloney, aren’t constantly reminding you that they’re holding out hope that something will change, and get on your level (because it is your child with the diagnosis), and just look at you and say, “This sucks, I’m sorry. But it only needs to suck this much right now. But we will do this together.”
Join a support group. The peace you get from knowing that your family isn’t alone in this battle is the importance of sharing this information with as many people as possible in hopes that it will make its way to a parent or caretaker in need. We’re here with you.

Protein Responsible:
The CDKL5 protein acts as a kinase, which is an enzyme that changes the activity of other proteins by adding oxygen and phosphate atoms (a phosphate group) at specific positions. Researchers have not yet determined which proteins are targeted by the CDKL5 protein. Although little is known about the protein’s function, it may play a role in regulating the activity of other genes, including the MECP2 gene (of Rett Syndrome). Scientist are working hard to provide answers to this question, what all is the CDKL5 protein responsible for providing to our bodies?

Is it hereditary/likelihood of passing on:  
It appears that most of the mutations are “de novo”, meaning that they occur spontaneously and are not passed down through families. However, there is one known family in which multiple siblings were affected with the exact mutation, but neither the mother nor father are considered carriers with current genetic testing technology, however, the mother is suspected to be a germ-line carrier.  It is not safe to assume that you are not a carrier based on DNA testing, alone. It is best to consult a geneticist to discuss your individual risk for passing down this genetic mutation.

Please browse our Introductory Guide to see specific types of therapeutic treatments currently deemed helpful in the CDKL5 community.