Simone Leembruggen's son, Raffael Bruna
Raffael Bruna was born apparently typical August 2014. At 9 weeks of age Raff had his first seizure. They quickly became more frequent and longer in duration and the seizures even changed over the months and years. Raff is now 2 years old. A diagnosis of CDKL5 was eventually found through sending DNA to America for testing.
This life-limiting disorder is very rare and even more-so for boys. It results in difficult to control seizures, gastro-intestinal problems, sleep disturbances, breathing irregularities, bone and joint problems, low muscle tone, autism features, sight problems and many other issues.
Many specialists were involved and many medications have been trialed unsuccessfully.
He is about to start the Keto-genic diet which is an extreme diet consisting of 90% fat to try and get seizure control.
Some natural therapies are also being used to support him as best as we can.
Raff has CVI (cortical visual impairment) which means his brain can’t interpret what he sees very well. He cannot talk or sit or walk. He sometimes eats a little puree and drinks from a bottle but we are relying more and more on tube feeding to stop him losing weight.
If we could get his seizures under control then maybe he can have some quality of life and maybe he can start to develop. There are a lot of great people out there doing research to find a cure and there are some wonderful possibilities that will hopefully be realised over the next few years. One being protein replacement and another being gene correction.
Raff is a beautiful boy and I would love to see him smile purposely or take an interest in things. We have yet to see much personality and, at the moment, Raff is either lying somewhere, crying, sleeping or having seizures. I am striving as hard as I can to give Raff some quality of life and relief from seizures.
I am doing my part to try and raise money to help Raff and others with CDKL5 so that they can have an opportunity to be happy and live a better life without seizures.
Heal & Soul Podiatry regularly donates to research and is organising the fundraiser in May 2017 with all proceeds going to CDKL5 International to help find a treatment and cure for CDKL5 so contact them on 5298 2746 if you want to get involved or donate directly by clicking here.
Recent research results April 2016
We have undertaken a study to investigate medical and other issues which may occur in the CDKL5 disorder and whether they vary according to the child’s age or type of genetic mutation. As you may know some of these problems are quite common. We have only been able to look at these issues in the CDKL5 disorder because of the ongoing contributions and help of families like yourselves, who have taken part in our ongoing research. Our findings are now available in an open access paper, so that you can read the full article here: http://www.ojrd.com/content/11/1/39 . One of the main reasons for our research is to provide information to doctors who have patients with the CDKL5 disorder and who may currently know very little about the condition. And so if you would like to share these findings with your doctor, we would encourage you to do so.
Hope 4 Harper
Hope4Harper was created in honor of Penny and Dustin Howard's daughter, Harper Elle Howard, who has a rare genetic mutation known as CDKL5. There are fewer than 500 diagnosed cases worldwide like this. CDKL5 consists of early onset of intense difficult to control seizures, along with, gastrointestinal, cardiological, bone, visual, and developmental issues. I have been prescribed intense therapy and seizure control to aid in successful mental and physical development. (www.CDKL5Info.com)
Chase's CDKL5 Journey
Little Chase is a true superboy. He has been through so much in his short life....please read his story in our photos section.
Please donate to our fund. We can help buy new aides for Chase. He will need a new feeding chair very soon.
He has just has loads of tests done, in the hope of getting some answers on his condition. BUT they need $1000 to send the tests to USA as they cannot be done in Australia. We can kick start this fund by getting some money for that.
Danielle spent most of her life living in Yanchep and still has ties with the town.
Please leave your name and a message on our wall when you donate.....we want to acknowledge your generosity.
Pass this site on to ALL you know.
LIKE this page....it helps us out.
All who know Danielle will know what an Awesome mum she is :)
Sonya has been diagnosed with CDKL5. A rare X-linked genetic disorder that results in early onset, difficult to control seizures. Please also share our story and this page to your friends and family so we can one day hopefully find a cure for all children who suffer from a CDKL5 mutation. Additionally, if you know of a child suffering from seizures, GI issues, CVI, and/or developmental delays please let them know about CDKL5 and have them speak to their child's doctor. Additionally, feel free to send them her way!!!!You can follow her story here or go to http://www.sonyasstory.com/
My name is Deshaun and I was blessed with this sweet boy on January 15, 2010. He was progressing beautifully until he was about 3 months old and he started having seizures. However, we did not know what was happening to him was actually seizures. He was diagnosed first with acid reflux and given meds to treat this. We had seen no more activity since the meds until we went on a family vacation and the spells of stiffening, redness in the face, and some jerks became more intense. At the time Braylon was 6 months and we decided to head back to the neurologist and explaining that this cannot be acid reflux. We began to tape the episodes and he had a few EEG's and that is when it was confirmed that is was indeed seizures. I was devastated and did not know what this meant. We began the long road of medications and treatments and nothing was really working. We decided, with guidance from the doctor to go ahead and have a Vegas Nerve Stimulator placed inside Braylon. A VNS is supposed to help shock the brain into stopping the seizure and help his seizures. At this point he was a year and a half and I was terrified for him to have surgery. However, he did great and at times we felt and still feel like this helps, but not always. We tried then steroid shots called ACTH and this did not do anything. At this point Braylon was having multiple seizures a day and they could last from 1 minute to 10 minutes. We were encouraged to move Braylon to UCLA medical center because they have doctors who specialize in just epilepsy in children, and even more specifically in infantile spasms. Infantile spasms are a different form of seizure and they are jerk of the body and can last minutes or longer. The doctors at UCLA are fantastic and they helped us kind of move on. We tried many medications, surgeries, options, but NOTHING was working! Finally, our doctor did genetic testing and we discovered that he has a deleted portion of his X chromosome. The name for this is CDKL5. CDKL5 is a scary thing, but we have learned to be strong and be there for our precious boy. CDKL5 is a rare X-linked genetic disorder that results in early onset, difficult to control seizures, and severe neuro-developmental impairment. This is almost exclusively found in females! It is an orphan disorder, however more children are being diagnosed as awareness of CDKL5 spreads. Most children affected by CDKL5 suffer from seizures that begin in the first few months of life. Most cannot walk, talk or feed themselves, and many are confined wheelchairs, dependent on others for everything. Many also suffer with scoliosis, visual impairment, sensory issues and various gastrointestinal difficulties. Braylon is one of about 20 boys known to have this deletion and diagnosis! When you look at all the boys that carry this trait they tend to be more severe and are completely dependent on others to care for them!
Braylon is also tube fed and on a Ketogenic diet. This road has not been an easy one and we have struggled with many seizures on a daily basis for 4 years and it has been trying. We have now been at UCLA Medical Center for 3 years and are working towards starting a new treatment in the near future, the Cannabis oil. We have home health care nurse and we are ever so thankful for him and all he does for our sweet boy. We are also working towards getting more physical therapy, occupational therapy (which all require money to give him) speech, and a more suitable vehicle for our needs. My prayers are we can find something that works and be able to start on a road to recovery. As of right now Braylon is completely dependable on us. He is very hypotonic, floppy, has NO head control, cannot talk, walk, sit up......nothing. We are on a waiting list to try a new study for children with seizures so we are waiting on that. We, as a family, decided to create this fund to help us raise money to get Braylon a Head Pod, to help with his head control (www.headpod.com), raise money to get us a vehicle that is equipped for Braylon's needs and can fit all of his equipment in the car when we need to travel and get to doctors appointments which are 2 hours away. He also needs a medical bath chair, car seat, stroller, and much more. We are so blessed to have received so many things, but these are just a few things that are needed that we know we do not have the money for. We only want to help our son and give him the best life he can possible have. Your love and support does not go unnoticed and we are ever so thankful for everyone who loves and cares for our sweet boy.
The Treyes Family
Hello, my name is Martyn and I live in Leicester, in the UK, with my wife Teresa, and our 2 daughters, Hannah and Ellie, and a dog called Max. Ellie was born in 1997 and at about the age of 5 weeks started having seizures. She subsequently developed severe learning difficulties with developmental delay. In 2010, at the age of 13, she was diagnosed with the rare genetic condition CDKL5.
I have developed this Supporting CDKL5 website to raise awareness of CDKL5 in the UK, to help provide information to other families who have children with CDKL5 and hopefully encourage and facilitate fund-raising events to support research into CDKL5.
When Ellie was first diagnosed, we found it very difficult to find and collate information about the different aspects of the condition. On this website, therefore, as well as our own story, from when we first became aware of Ellie's potential disability up to where we are at the present time, you will also find information about the science behind CDKL5 as well as reviews of past and current research.