CDKL5

If you would like to read futther information on CDKL5, please go to http://www.cdkl5.com/

My Journey with CDKL5, Rett Atypical

Welcome to my page. My name is Alexis Amber and I just turned 13 years old. I live in New York, USA. I was just recently diagnosed on April 30, 2008 with CDKL5, Atypical Rett Syndrome. To date less than 60 children worldwide are recognized as having a CDKL5 disorder. As awareness of CDKL5 and the disorders it causes increases more affected individuals are being identified.

CDKL5 is a gene that is found on one of our sex chromosomes called the X chromosome. The letters are an abbreviation of the scientific name of the gene which describes what it does. The long-winded name is cyclin-dependent kinase-like 5. The CDKL5 gene was previously called STK9 and sometimes people think that the two genes might be different but they are in fact the same.

The CDKL5 gene provides instructions for making a protein that is essential for normal brain development. Although little is known about the protein's function, it may play a role in regulating the activity of other genes. The CDKL5 protein acts as a kinase, which is an enzyme that changes the activity of other proteins by adding a cluster of oxygen and phosphate atoms (a phosphate group) at specific positions. Researchers have not determined which proteins are targeted by the CDKL5 protein.

Mutations in the CDKL5 gene are have been found in girls with Atypical Rett Syndrome and boys and girls with X-linked infantile spasm syndrome (ISSX), West Syndrome and early onset seizures.
To date one girl with a milder form having moderate intellectual delay and autistic features with no seizures or physical disabilities has been diagnosed.
Some CDKL5 mutations change a single protein building block (amino acid) in a region of the CDKL5 protein that is critical for its kinase function. Other mutations lead to the production of an abnormally short, nonfunctional version of the protein. Researchers are working to determine how these changes result in seizures and the characteristic features of Rett syndrome [RTT] in affected children The involvement of CDKL5 in RTT seems to be explained by the fact that it works upstream of MeCP2, the main cause of RTT.

At the moment testing for CDKL5 is limited to children with a diagnosis of Rett Syndrome who have been tested negative to the Rett Syndrome gene MECP2 and a handful of children who have severe early onset Infantile Spasms or epilepsy onset within the first few months of life.

I was born on July 19, 1996 and I appeared to be a normal healthy baby girl. My journey began when I was only 10 days old. I started to cry and was unable to be comforted. They told my Mommy that I had colic and to switch my formula around and to just deal with me and in time the crying would go away. Well they were wrong because I cried until I was around 5 years or so.

At 3 months old I threw a fit, no one saw but my Mom and we fgured it was related to my crying spells. I did the same thing the following day and my Mom called 911. My seizures have begun. The doctors think I may have been having them all along, but I was so colicy they could have been mistaken. I had my first seizure when I was 3 months old back in 1996. They took blood work from me and gave me my first spinal tap to rule out meningitis and a cat scan. I spent my first Halloween in a clown suit wearing an EEG and that's when our lives were turned upside down. The neurologist put me on Dilantin and told my mother the only side effect would be that I shouldn't drive. How heartless.

At 5 months old my Mom realized that I had stopped responding to light and that I wasn’t consistently tracking. My Neurologist said that I was just visually delayed and that I would be okay. Well, she was wrong. Soon after having seen several Opthomologist’s and having a VER & ERG we learned to find out that I am cortically blind. My seizures also start in the visual part of my brain so I have a double whammy here.

So now all my testing and procedures begin to find out what is happening to me. I’ve had so much DNA testing done at all different times with no luck of finding anything out. I have had Cat scans, X-Ray’s, MRI’s and a PET Scan. GI (gastro) studies done such as Barium Swallow and Upper GI series. I have had Muscle Biopsies and Skin Biopsies done a few times. They did a series of Spinal Taps on me because I had such a small amount of Excess Cerebral Fluid and they wanted to see if a shunt would help. They also did ICP (Inter cranial pressure testing) Bolt monitoring and it was such a small amount we didn’t go for the shunt. As for Visual I had a VER and a BER. I also had an EMG (Electromyogram, nerve conduction study). For my heart, I have had several EKG’s and Echo Cardiograms done. I had surgery to close a very large hole in my heart that the doctors didn't think would lose on its own. I have had numerous EEG’s done for my seizures as well. I have been on 11 different seizure medications and none have controlled them. I tried the Ketogenic Diet and I had success, but I hated the food so we had to stop the diet.

Here is the list of the different types of specialists (quantities are approximates, we may have lost track of some) that I have seen: Neurologists 16, Neurosurgeons 3, Epolotogists (sp) 2, Opthomologist's 8, Pediatricians 6, Genetics 3 to 5, Gastro 5, Cardiologists 6, Cardiac Surgeons 2, Chiropractors 3, Cranial Sacal Homeopath’s 1, Dentists 4, Dermatologists 3, Dieticians 3, Nutrition 2, Allergists 2, Endocrinologists 1, Pulmonary 1, Orthopedic surgeon 1, Orthopedic 5. I’m sure I am leaving someone out.

Currently in 2008 I am on Clonopin, I have the VNS (Vegal Nerve Stimulator) and take Diastate when I am having a seizure that is over 10 minutes.

I no longer eat by mouth as of 2006. I had a GI button tube place over 2 years ago due to aspiration. Lucky for me my tests are showing no sign of aspiration as of 2008 and I am allowed to try to eat again during speech therapy only. I am still only at the applesauce stage though, but I loved to eat so I am hoping that I keep doing well and I can start to enjoy more and more foods and discontinue tube feeding.

I have shown just about every symptom of having CDKL5, but from what I am learning this has only been recognized in the year 2004. There is no cure for CDKL5. I tested negative for both of the Rett Syndrome dna tests, but I was being clinically diagnosed as having Rett Syndrome back in 2001ish. The Doctors did tell us that I would have to wait for new testing to come out, but I didn’t realize that I wouldn’t get diagnosed so many years later. My symptoms include : seizures, no hand skills other than hand wringing and mouthing, severe developmental delay, hypersensitive to touch, and I hated my hair being brushed when I was real little. I am cortically blind so therefore I have poor eye contact and tracking objects. Gastro reflux and constipation. I have small cold feet. I used to grind my teeth, but I stopped doing that a long time ago. I had laughing spells and crying spells for years, but they both have stopped as well. I have poor muscle tone. I was told that I had autistic like traits, but had yet to be diagnosed with autism.

I just turned 12 on July 19, 2008 this year, I am only at the level of a 6 to 8 month old baby. To date I still have seizures. In this past year I have been averaging from 30 to 80 per month. I am on Clonopin 3 times per day, and use the VNS at the start. I take Diastate when my seizures reache 10 min to help to stop them. I’m cortically blind. I am wheelchair bound because I cam not walk. I can sit up on my own, but I don’t have the strength to stay up on my own. I still wear diapers. I do not speak, but I do make sounds especially when I’m getting hungry or bored. I wear orthodics to help keep my ankles and feet straight. I have to wear soft splints to keep my hands out of my mouth to avoid skin breakdown and hurting my eye with my fingers. I was just diagnosed with Scoliosis and may need surgery. I lost the ability to show emotion and pain so when I am with the doctors I need to make sure my Mom or Grandma are with me to make sure the doctors and nurses know that I can feel everything and to treat me like a human and to look at me when they are talking about me.

Luckily for me I have so many great people to help me with my everyday needs. I have a great family and care givers in the Residential home that I live. I have been in a residential home since 2001, over 7 years now. I attend a day program Monday through Friday where I receive my therapy sessions such as Physical, Occupational, Speach and Vision. I go home almost every weekend and stay at my Mimi’s house. I love my family for all their support and for making sure that I have the best possible care ever.