Sometimes the things you can’t change end up changing you!
CDKL5 gene provides instructions for making proteins essential for normal brain and neuron development
“I sometimes think this is the hardest part of this disease. That missing protein allows for a healthy brain and body. I say this is the hardest part because I can physically see that my daughter is trapped inside of a body that doesn't work. Sometimes we try to get her to do things and you can see that in her mind (facial expression and eye movements) that she wants so badly to do it like reach for something or hold on to something, and her body just won't communicate with her brain. She is trapped and it is nearly gut wrenching.. what I wouldn't give to hear her sweet voice...
Imagine...
An itch you can't scratch
A hug you can't give
A drink you can't take
A voice you can't ask for help with
An "i love you" you long to say
A step you can't take
A life lived trapped inside of a body that won't work even though your brain tells it to...
I'll never stop hoping for a cure and advocating for my girl and others. Regardless, I would choose her over and over again as she is, ill never stop being her voice. She is MY purpose 💚
More cdkl5 info is available on the site www.cdkl5.com
Feel free to share, help us continue to spread awareness cause someone we love deserves a cure💚💜"
Written by a friend on Facebook Parents support Group
WTF is CDKL5 already?
CDKL5 deficiency disorder is characterized by seizures that begin in infancy, followed by significant delays in many aspects of development.
Seizures in CDKL5 deficiency disorder usually begin within the first 3 months of life, and can appear as early as the first week after birth. The types of seizures change with age, and may follow a predictable pattern. The most common types are generalized tonic-clonic seizures, which involve a loss of consciousness, muscle rigidity, and convulsions; tonic seizures, which are characterized by abnormal muscle contractions; and epileptic spasms, which involve short episodes of muscle jerks. Seizures occur daily in most people with CDKL5 deficiency disorder, although they can have periods when they are seizure-free. Seizures in CDKL5 deficiency disorder are typically resistant to treatment.
Development is impaired in children with CDKL5 deficiency disorder. Most have severe intellectual disability and little or no speech. The development of gross motor skills, such as sitting, standing, and walking, is delayed or not achieved. About one-third of affected individuals are able to walk independently. Fine motor skills, such as picking up small objects with the fingers, are also impaired; about half of affected individuals have purposeful use of their hands. Most people with this condition have vision problems (cortical visual impairment).
Other common features of CDKL5 deficiency disorder include repetitive hand movements (stereotypies), such as clapping, hand licking, and hand sucking; teeth grinding (bruxism); disrupted sleep; feeding difficulties; and gastrointestinal problems including constipation and backflow of acidic stomach contents into the esophagus (gastroesophageal reflux
). Some affected individuals have episodes of irregular breathing. Distinctive facial features in some people with CDKL5 deficiency disorder include a high and broad forehead, large and deep-set eyes, a well-defined space between the nose and upper lip (philtrum), full lips, widely spaced teeth, and a high roof of the mouth (palate). Other physical differences can also occur, such as an unusually small head size (microcephaly), side-to-side curvature of the spine (scoliosis), and tapered fingers.
CDKL5 deficiency disorder was previously classified as an atypical form of Rett syndrome. These conditions have common features, including seizures, intellectual disability, and other problems with development. However, the signs and symptoms associated with CDKL5 deficiency disorder and its genetic cause are distinct from those of Rett syndrome, and CDKL5 deficiency disorder is now considered a separate condition.
What about this starfish
Once upon a time, there was an old man who used to go to the ocean to do his writing. He had a habit of walking on the beach every morning before he began his work. Early one morning, he was walking along the shore after a big storm had passed and found the vast beach littered with starfish as far as the eye could see, stretching in both directions.
Off in the distance, the old man noticed a small boy approaching. As the boy walked, he paused every so often and as he grew closer, the man could see that he was occasionally bending down to pick up an object and throw it into the sea. The boy came closer still and the man called out, “Good morning! May I ask what it is that you are doing?”
The young boy paused, looked up, and replied “Throwing starfish into the ocean. The tide has washed them up onto the beach and they can’t return to the sea by themselves,” the youth replied. “When the sun gets high, they will die, unless I throw them back into the water.”
The old man replied, “But there must be tens of thousands of starfish on this beach. I’m afraid you won’t really be able to make much of a difference.”
The boy bent down, picked up yet another starfish and threw it as far as he could into the ocean. Then he turned, smiled and said, “It made a difference to that one!”
adapted from The Star Thrower, by Loren Eiseley (1907 – 1977)
Inspiration always comes from somewhere, let it be
from what you love with all your heart!
This moment changed our lives forever
t was very hard for us to come up with a decision to show the world our nightmare. This is about showing the world what this looks like so of course we had to post this. I cringe every time I see this, but we hard a hard time naming this and still are unsure which type of seizure this was but it about looking out for these. All sorts of people have a chance of having a sezuire so identifying the bad ones are especially helpful. We believe this to be a infantile spasm, they are very harmful. Although she will throughout her life have seizure, this one still keeps me restless at night. It can cause regression to the point of her being regressin back to new born
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