Discover Top Posts Tagged with #cdkl5

Hey

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/

CDKL5 deficiency disorder is a rare neurodevelopmental disease caused by mutations in the CDKL5 gene. Hallmarks are early-onset, intractable

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.

Please reblog if you see this, it's important to me and anyone else on this website that may know about this or have been impacted by it.

#cdkl5 #CDKL5 #cdkl5 deficiency disorder #cdkl5 disorder #cdkl5 deficiency #cdkl5 awareness #cdd #epilepsy

The #WHO disease classification will now include a disease called #CDKL5 Deficiency Disorder #internationalmedicircle https://bit.ly/38PFf1U https://www.instagram.com/p/B8BN3DRJow8/?igshid=16kzzstyl8xx5

#who #cdkl5 #internationalmedicircle

Hoping for the Impossible

During almost every conversation I have with our neurologist about Nathaniel's seizure treatment she will say to me "because Nathaniel's seizures are extremely difficult to control, we aren't ever expecting him to be seizure free. We just trying to control his seizures as much as possible." Because I'm so used to hearing this from our neuro and because seizures have become such a normal part of our lives, I have pretty much stopped imagining what life might be like for Nathaniel if he were to ever be seizure free. I've come to accept that the doctors think that Nathaniel will never be seizure free, even with medication. But sometimes in the late hours of the night when I'm alone with my thoughts, I let my heart hope for the impossible. That's exactly what happened last night at around 3:30 a.m.. I was leaning on the hospital bed rubbing Nathaniel's back, listening to the beep of monitors while he transitioned back and forth between sleep and crying. In my exhaustion, I felt the spark of hope. The first small hope I had was "what if the Keto diet actually works?" Next came "What if, for once, he's one of the small percentage of kids that this treatment actually causes to be completely seizure free? How would that improve his development? Might he actually be crawling by Christmas? How would it improve his fine motor skills? Could he more easily learn to feed himself? What would his personality be like if he's not constantly interrupted by seizures all day? How would his vision improve?" Imagining Nathaniel seizure free with improved development was beautiful. Dreaming some new dreams for his future encouraged me, even just for a little while. It's hard to hope for the impossible, especially when all the experts keep telling you that it can't be done. Even though I know that nothing is impossible for God and that miracles happen every day, I also know that miracles don't happen to everyone. But for today, I'm going to choose hope. I'm going to believe that this treatment is going to work. I'm going to have faith. I decided to focus on this verse over the next couple of weeks as we go through the steps for brain surgery and as we continue with Keto: "I pray that God, the source of hope, will fill you completely with joy and peace because you trust in him. Then you will overflow with confident hope through the power of the Holy Spirit." - Romans 15:13 I don't always have the strength to keep hope, but I MUST keep fighting and hoping for Nathaniel. So instead of giving up (like I often feel like doing) I'm going to look to my true source of hope and I'm going to pray to be filled with peace and joy. I'm going to keeping fighting for our fighter.

#cdkl5 #infantilespasms

Starting The Keto Diet

I'm so anxious about this week. Nathaniel is (hopefully) being admitted tomorrow to start the Ketogenic diet. I have such mixed feelings. I'm hopeful this will work, but at the same time, I also feel like we are wasting our time and this is going to be an epic fail like everything else we have tried. Let me start of by explaining where we are at with the treatment of Nathaniel's seizures. Currently, he still has 3 different types of seizures. His Myoclonic seizures are being controlled by a medication, his Infantile Spasm and focal seizures are less intense with two other medications he is taking but they are not completely controlled. In fact, his seizures have slowly intensified over the last few months. Right now our biggest fear is that his Infantile Spasms will remain untreatable and turn into Epileptic Spasms. That means he will continue to have 10 to 20 seizures a day for the rest of his life and there is nothing we can do about it. We are currently on our 4th medication. Each time you start a new epileptic medication your chances for it to be effective drop...and so does our hope of controlling Nathaniel's seizures. We have a 20% chance of the Keto diet controlling 40% of Nathaniel's seizures. That doesn't sound like very good odds, but ultimately, we don't have a choice because it just might work. If it does control 40% of his seizures he will go from having 10 to 15 seizures a day to 4 to 6 a day - which is a big improvement. The ketogenic diet is a special high-fat diet that is used for difficult to treat seizures. Heavy cream, butter and vegetable oils provide the necessary fat. The diet also completely eliminates sweets such as candy, cookies, and desserts. Other carbohydrate rich foods such as bread, potatoes, rice, cereals, and pasta are not allowed on the diet. All foods must be carefully prepared and weighed on a gram scale. Each meal must be eaten in its entirety for the diet to be most effective. Sounds like every toddler's dream, right? Nope. I didn't think so either. Nathaniel is going to be on a 4:1 ratio to start. That means that he has to eat 4xs as much fat as he does carbs or protein. You might be thinking, "how hard can this be? Lots of people don't let their kids eat sugar or bad food". But this is different. I have to weigh every single thing he eats. He has to eat every single this I feed him. If we mess up anything on this diet or he eats the wrong food, he can get sick and/or it won't work and he will continue to have seizures. That's ALOT of pressure on us as parents. The next stress I have is about side effects. Nathaniel has to be monitored closely in the hospital because many kids become dehydrated, develop kidney stones or have vomiting or diarrhea. Please pray that Nathaniel takes to the diet well and doesn't have any of these side effects. Please, please, please, keep us in your prayers this week. Being stuck living in a hospital for 4 days is never easy - especially when your kiddo is not really "sick". We are struggling with questioning if this is all worth it. Most importantly, please pray that this works, that Nathaniel doesn't have any reactions and that Scott and I get the hang of the diet pretty easily. After this we get a few days at home before we go back to DC on Sunday so that Nathaniel can have an MRI on Monday. This will be his 3rd MRI, but hopefully they will get a good clear shot. He is still being evaluated for brain surgery. I'll give more detail on that soon. Last but not least, I know that someone is going to read this and wonder if we have tried medical marijuana. The answer to that is no because it's not legal in VA for children. I have researched it tirelessly and it's not as easy as most people think to get for your child. Each state has different laws and finding a reliable doctor to prescribe and monitor its use is tough. Also, it will only have about a 20% chance of working which is similar to any other treatment we try. The media loves to make it sound like its a quick fix for seizures and I'm sure for some people it is, but they were most likely one of the 20% who it worked for. I'm going to do a separate blog on this subject later, but I thought I would mention this now since I usually get 2 or 3 questions about it after I do a Nathaniel update 😊 Thank you all for your prayers and support this week. It truly means so much to our little family. I'll keep everyone updated on how the week goes.

#cdkl5 #infantilespasms

CDKL5 - Could this be the diagnosis you seek?

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.

For more information on PulseGuard and seizure monitoring, visit the PulseGuard website.

#cdkl5 #rett syndrome #EpilepsyAwareness #Epilepsy #pulseguard #seizure #health #health tech #tech for good #disabilities #dravet syndrome #children #doctors #medical research #science

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…

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#Any Fischer #Canabidiol #cbd #CDKL5 #Derivado #família #Katiele Fischer #Maconha #Maconha Medicinal #Prêmio Trip Transformadores 2015 #Revista Trip #Smoke Buddies #Uso medicinal

We are warriors, survivors, advocates and caregivers in the fight against Lymphoma, Non-Hodgkin's Lymphoma, CDKL5, Lyme Disease, Mental Health, and Muscular Dystrophy. Who do you wear a ribbon for? Check out AwarenessRibbonColors.com ➡️NOTE: Please do NOT alter our image nor remove our credit.

#lymphoma #non hodgkins lymphoma #cdkl5 #Lyme Disease #mental health #muscular dystrophy #lime green ribbon #awareness ribbon #cancer awareness #disease awareness #awareness matters #stay strong #never give up

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

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