Services 4 — Stella Strong

CDKL5 is relatively new, and our knowledge base and treatment options are limited. That’s why awareness and advocacy matter so much!

What is CDKL5?

CDKL5 deficiency disorder is a rare form of epilepsy caused by mutations in the CDKL5 gene. There is a very broad range of clinical symptoms and severity between individuals with the hallmarks being early-onset, intractable seizures and neurodevelopmental delays impacting cognitive, motor, speech, and visual functions.

How do you treat CDKL5?

The truth is there is no clear treatment established yet for CDKL5 Deficiency Disorder to provide any dependable seizure control or aid in combating developmental delays

Some treatments include anti‐epileptic drugs (AED’s), ketogenic diet and other dietary modifications, vagal nerve stimulator (VNS), or neurosurgery, such as corpus callosotomy. This said, we have very limited data available on if and how these treatments actually work, which is why continued research is so critical.

Early intervention therapy in various disciplines is imperative to combating the severe developmental delays connected to the condition impacting cognitive, motor, speech, and visual functions.

What is an “orphan disease”?

An orphan disease is one that has not been adopted by the pharmaceutical industry because it provides little financial incentive for the private sector to make and market new medications to treat or prevent it. An orphan disease may be a rare disease (affects fewer than 200,000 people) or a common disease that has been ignored because it is far more prevalent in developing countries than in the developed world.

There are over 7,000 distinct orphan diseases. Between patients, families, and friends, imagine how many lives are affected by orphan diseases. We are working hard to make CDKL5 Deficiency Disorder the “Oliver Twist '' of orphan diseases with a cure providing a happy ending.

What do CDKL5 families need?

On top of the obvious emotional toll that this diagnosis has on the family of a CDKL5 child come all the challenges associated with figuring out how to create the best life possible for their dearest one. We would love to work with organizations and individuals to help streamline and simplify the process of tackling critical and ongoing needs such as:

Finding medical resources/care support
Understanding financial resources
Exploring therapy and medication options
Enrolling in potential research/med trials
Finding social support
Navigating resources, overall

What Qs would we like to answer?

We’re inspired by all the brilliant work being done to research potential treatments and cures for CDKL5 and other orphan diseases. As the body of work grows and broadens, we’d love to work with organizations to cull the findings and present them in a way that helps address some of the most burning questions of CDKL5 families:

What medications and treatments and exist—and what are their success rates?
What are our therapy options—and how effective are different therapies?
Where can we access a comprehensive listing of ongoing/upcoming trials—and how can we join them?
Where can we find a centralized hub of information regarding total care for CDKL5?
How can we better share our personal approaches and successes with each other?

What databases are helping?

There are many CDKL5 and orphan disease patient databases that collect the info needed to input into studies and locate potential participants. Due to various constraints, there is currently no universal way to collect this data; families must enter similar information into each individual platform. We’d like to work together to consolidate and streamline these database so we can better connect this vital information and relieve families of the time and emotional toll it takes to contribute to each database. In the meantime, here are the databases we’re currently aware of: