Dear Mr. President,
My name is Sonya Ahava Zaila, but I am better known as Sonzee Bear. I am a 15-month-old little girl from Phoenix, Arizona who has a rare genetic mutation known as CDKL5. My purpose in writing to you is to help raise awareness of CDKL5 and to introduce you to my story www.sonyasstory.com. You can also follow my progress on Facebook at www.facebook.com/smiles4sonya. I am writing to you today to complete a bucket list item of making sure each President of the United States becomes aware of CDKL5 from this point forward.
CDKL5 is a rare X-linked genetic disorder that results in early onset, difficult to control seizures, and severe neuro-developmental impairment. It is an orphan disorder; however, more children are being diagnosed as awareness of CDKL5 spreads. CDKL5 stands for cyclin-dependent kinase-like 5, and is located on the X chromosome. The letters are an abbreviation of the scientific name of the gene that describes what it does.
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 oxygen and phosphate atoms (a phosphate group) at specific positions. Researchers have not yet determined which proteins the CDKL5 protein targets.
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.
CDKL5 mutations have been found in children diagnosed with Infantile Spasms, West Syndrome, Lennox-Gastaut, Rett Syndrome, cerebral palsy, and autism. However, it is important to note that scientists and doctors do not know what causes CDKL5 mutations or the full spectrum of CDKL5 disorders. It is likely that there are many people affected by CDKL5 who have mild symptoms and no seizures. With continued research and awareness of CDKL5, there is hope to build a more comprehensive understanding of the spectrum of this disorder, and begin the search for a desperately needed cure.
Thank you for taking the time to learn about CDKL5 and I hope you follow my story.
Please visit www.cdkl5.com for more information about CDKL5.
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