Aiyana was diagnosed with CDKL5 deficiency disorder- It 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. Development is impaired in children with CDKL5 deficiency disorder. Aiyana has 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. Fine motor skills, such as picking up small objects with the fingers, are also impaired; Aiyana, like most people with this condition has vision problems (cortical visual impairment).
When we found out in the late fall of 2011 that we were expecting our second child, we were really excited that our son will have a sibling to grow up with. Our son was really excited that he will get to be a big brother. Our joy doubled when we found out that we will have a girl. We will now be a complete family. As a dad, I could already sense a special bond that I will form with my princess. After Aiyana was born in July 2012, she was a typical child that would eat and sleep like a baby till we saw something unusual when she was four weeks old. Her entire body was shaking and we didn’t know what it was because we hadn’t seen anything like it. We took her to the closest hospital. That event was identified as a seizure. We ran various tests to identify the root cause but everything came normal. The doctors put her on seizure meds and Ketogenic diet to control her seizures. We started seeing a delay in Aiyana‘s development. She was not controlling her head. She was not sitting or crawling. Her neurologist finally suggested running a genetic panel test. It took three months to get the results but we had a diagnosis. It was CDKL5 Deficiency Disorder-something we had never heard of before. There were only 2000 kids in the world at that point in time who had this disorder and Aiyana was one of them. A disorder so rare that science does not know why it happens and does not have a cure. We took Aiyana to hospitals throughout the country who had any patient dealing with the same disorder to learn as much as possible.
As Aiyana started getting older, her list of issues started getting longer as well. She now deals with Gastrointestinal issues, respiratory issues, epilepsy, and Cortical Visual Impairment. We see all kinds of specialists to make sure she is getting good care. She needs one on one nursing care for her at school and home during nights. Aiyana is fully dependent on her caregivers for her needs. She can’t eat by mouth, can’t walk and can’t talk. She can’t use her hands for any of her needs. Aiyana is eight years old now and weighs close to 50 pounds. As she is getting older and bigger in size, it is getting harder for us to lift her and put her in the van. She can’t fit in the oversized car seat that she has been using for the last few years. It is getting harder for us t take her to hospitals, therapies, and school. We really need a converted van with a ramp that can accommodate her wheelchair. With expenses related to hospital, therapies, and medical essentials, we will really appreciate if you can help us fund the converted vehicle.
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