#cdkl5

I know I only have 73 followers, but I want you guys to listen.

I noticed that there is no tag, no posts, no anything for CDKL5 (also called CDD, CDKL5 deficiency, CDKL5 disorder, or CDKL5 deficiency disorder)

I want to spread awareness.

"CDKL5 deficiency disorder is a rare developmental epileptic encephalopathy caused by mutations in the CDKL5 gene, and this can manifest in a broad range of clinical symptoms and severity. The hallmarks are early-onset, intractable epilepsy and neurodevelopmental delay impacting cognitive, motor, speech, and visual function. Although rare, the occurrence is believed to be ~1:40,000 -75,000 live births, making it one of the most common forms of genetic epilepsy.

The CDKL5 gene provides instructions for making proteins that are essential for normal brain and neuron development. 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.

CDKL5 was first identified in 2004, it stands for cyclin-dependent kinase-like 5, and its location is on the X chromosome. The X chromosome is one of the sex chromosomes; females have two X’s, and males have one X and one Y chromosome. The letters are an abbreviation of the scientific name of the gene, which describes what it does. The CDKL5 gene was previously called STK9. Many cases have been identified in boys, but because of the location of the gene, CDD mainly affects girls."

Source: https://www.cdkl5.com/about-cdkl5/

This is just one website with information, there are many more resources if you search it online.

I want to spread awareness about this, since someone very close to me has it and it affects my daily life.

I might post this once my blog is more popular, maybe more people will spread the word then.

Last Tuesday at 4am, I awoke from my sleep and readied myself for my first conference, representing PulseGuard. This was the 3rd annual European CDKL5 Conference in Solihull.

Like me before last week, you may not have heard of this rare condition. In fact, the symptoms are not unlike Dravet syndrome. I will write a piece about Dravet soon, as it is also a condition that is unheard of by many. But for now, CDKL5 is fresh in mind after hearing stories, meeting families and their wonderful children last week. Parents I met told of the fear they lived with for years, not knowing what their child was suffering from, and just knowing how to best support their children through knowing a diagnosis can bring peace of mind. It seems that many doctors around the country are unaware of the disorder and through spreading the awareness, more diagnoses are being made. So I hope this piece will help give you more insight into CDKL5, whether you are in the medical profession, awaiting a diagnosis for a condition or just a completely healthy human being.

CDKL5 stands for cyclin-dependent kinase-like 5. It’s a gene located on the X-chromosome. The gene provides information that is essential for brain development. Not much is known about its function and more information is continually being researched. Most children affected suffer from seizures that begin in the first few months of life. One parent mentioned that her child started seizing 3 weeks after birth! Can you imagine the fear they must have felt? Most cannot walk, talk, feed themselves, are confined to wheel chairs and need constant dependence on others for everything. Visual impairment, twisting and curvature if the spine, sensory issues, gastrointestinal difficulties…the list goes on.

CDKL5 mutations have been found in children with other conditions, and doctors don’t know yet what causes these mutations, nor the full spectrum of symptoms. Each child I met had different symptoms. Some were wheel chair bound, some could walk, some could walk for small periods. Some could talk, others could not. Some seemed happy, others were visually distressed. Seizures were different in each, and other symptoms differed. Like epilepsy, each case is individual.

It might be that your child has severe epilepsy and disabilities, but no diagnosis. Keep pushing, keep exploring the different options, and rarer conditions like Dravet and CDKL5. But more and more children are being diagnosed with CDKL5 as awareness spreads. We can all do something to share and make others aware of these condtions

Much like Dravet and epilepsy, good has come from bad in the shape of community. People gather, they relate, and support one other. Doctors and scientists, mixing with everyday families, to work together to help solve another of life’s great mysteries. So many good things can become polluted from greed and jealousy. Its wonderful to see a bad situation bringing out the best in human beings.

For more information on CDKL5, the symptoms and support, visit the CDKL5 UK website.

Revista Trip homenageia mãe que acendeu o debate pela maconha medicinal no Brasil

O Prêmio Trip Transformadores é apoiado por marcas com princípios alinhados à iniciativa e a seus homenageados. E uma das homenageadas de 2015 é Katiele Fischer e sua família, com a história que mobilizou o país e fez o Brasil a enxergar a questão da maconha medicinal.

Todo ano a Revista Triprealiza uma cerimônia para celebrar os homenageados do movimento Trip Transformadores. O prêmio, que…

Reflecting on Freedom in Philadelphia

As I rode with Harper's family into the city from the Philadelphia airport, the sense of excitement in the car was high. We came to the 'City of Brotherly Love' on two missions, one much more important than the other. Would we be successful?

Philadelphia is the home of Dr. Francis Jensen, Professor and Chair of the Department of Neurology at the University of Pennsylvania. Three years ago, my friend Harper and her family received the devastating news that Harper had CDKL5. CDKL5 is a rare disorder with only 500 known cases worldwide. Her family started a foundation called Hope4Harper to raise awareness and funding for research.

(See more background on Harper and her recent Run4Hope in this post: Amazing Three Year Old Inspires Hope)

So our first mission was finding FREEDOM for Harper, freedom from the seizures caused by a disease she did not choose. We met with Dr. Jensen and her amazing team of clinical researchers. Hope4Harper supports research into learning how to control Harper's seizures, research that Harper's mom Penny notes 'will impact a broader group of those with Epilepsy'. The work being done here is so important to so many people and their families. Meeting the electrophysicist, the Geneticist, a Child Neurologist...it was all so overwhelming yet inspiring! Harper's family was encouraged by the collaborative efforts of the team, and HOPEFUL that Harper's freedom would be found here someday.

(Read more detail on the research from Harper's blog here: Hope4Harper Visits Seizure Research Project Lab in Philadelphia)

The second mission, the one that pales in comparison to the first, was to tour historic Philadelphia with Harper's family. We saw Independence Hall, where the Declaration of Independence was signed in 1776! We visited the remaining foundation of President George Washington's house, the first President of the United States. Next up was the Liberty Bell, which Harper and I tried to ring, thinking that would be fun! Little did we know it no longer makes any sound. The crack that started with the very first ring became irreparable to the point of muteness!

We also found time to stroll through downtown and take in the local cuisine. Cheese steak sandwiches at Steve's Prince of Steaks were new to me, and they looked delicious. Of course, I don't need food, but I want the best for my friends! The people and the culture of the city had my head spinning. I had no idea that over 20% of the residents in Philadelphia have a 'mother' language other than English. Around every corner was a different dialect and a new attraction. Museums, Universities, parks, the row houses, the river, the architecture...I loved it all. Our second mission was complete.

As our time wound down, and we began the journey home, Harper's family reflected on what this city means to them. Philadelphia has long represented freedom to many Americans. Harper's family shares that sentiment, but freedom for Harper is what they are seeking now. The researchers on Harper's team that are working tirelessly in the 'City of Brotherly Love', truly have our love for their efforts. Our hope is alive, but this mission is not yet complete. Please help Hope4Harper in their quest to find freedom for their daughter.

Learn more about Harper and her family: www.hope4harper.com

Contribute to help find a cure: DONATE

Klaven’s Mission: Explore. Share. Inspire.