Meet Me... Kay-Kay!
My name is Kay-Kay Perez. I have decided to start blogging because I really want to share my life with the world. I have a disease called achondroplasia dwarfism. Many days of my life, it can be extremely hard to live with this disease. From the moment my parents saw the first images of me, they knew I was different. When I was born, the doctors confirmed my parent's concern- They diagnosed me with achondroplasia dwarfism. At first, in my early toddler days, I couldn't really tell that I was different than all of the other kids who were my age. It wasn't until kindergarten that I really started to notice...other children were growing taller and taller as I stayed the same height.
Do you know what this disease is? Achondroplasia Dwarfism is a very common type of dwarfism. The disease causes a person to have short limbs. It is caused by a mutation in the FGFR3 gene. The mutation causes a lot of your cartilage to not convert to bone and causes the protein to be overactive which interferes with normal fetal development. This disease is something that people are born with, the "onset age" is birth. There are so many symptoms that go along with achondroplasia dwarfism. The symptoms include having shortened forearms and lower legs, a large head, crowded or misaligned teeth, flat feet, poor muscle tone, ear infections, small vertebral canals, and delayed milestones in your life (such as learning how to walk). I am in a lot of pain many days of my life due to my disease. I can't do a lot of physical activity due to my size.The mutation in the FGFR3 gene follows an autosomal dominant inheritance pattern. This means that only one parent needs to pass down a defective FGFR3 gene for a child to have achondroplasia. Any type of person can get this disease, male or female. When someone does not know what the disease that I have is or would like to learn more about it, I always recommend this website to them:
I am currently twenty two years old. I live in Atlanta, in an apartment alone. My family lives nearby and I have a few close friends. This disease only makes my limbs very short. It does not make me any less intelligent than a normal person, I live a normal life, except for the fact that I have to drive with extension pedals and use a stool whenever I want to reach something that is high up. What does a normal day look like for me? Everyday I wake up early and go to work until the late evening. I have dinner with my family some days and other days I enjoy some alone time. I have no children and I am not married. The disease I have has taught me many lessons, I do often go through struggles. I have made this blog to post on every now and then so that the world can learn more about me, the struggles I have been through and am going through, how I manage my life, and what my daily activities look like.
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| What someone with dwarfism looks like compared to a normal, tall person |
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