A Big Update

1.22.17

Where I am Now 😁😁

Well, after worrying for countless hours about if I would ever meet the perfect husband, it happened... I AM ENGAGED!! At 27 years old, I think that I am the perfect age to get married! I met a man named Timothy at an event at my church one Sunday night. He was so kind to me, and had all of the qualities that I would look for in a husband. Timothy is not a dwarf, which gives my hope that maybe we can have a child who will not have the same disease as me. I am so happy to be at this stage of life. Having achondroplasia can be SO difficult at times, it certainly does have its challenges. Whenever you are in doubt about  your future- DON'T BE!!!! I went to bed crying so many times from the time I was in high school to weeks before I met Timothy. I would have never thought that I would be where I am today. I am absolutely thrilled to be getting married. 

The other night, Timothy and I were discussing whether we should take the risk of having a child or not. There is a chance that the child is born with achondroplasia because I have it, and an even greater chance that the child will be born with the disease if Timothy has an allele for it. We are going to get him tested in a few weeks. 

I never thought that I would end up where I am today. After all the doctors visited, surgeries, bullying, and difficulties I have been through, I have finally realized that I am perfect just the way I am and that I should NEVER, not even for one day, let this disease get the best of me. If you have dwarfism or any other disease, always be positive about it. 

Meeting Others With Achondroplasia Dwarfism

7/13/2016

Meeting Others With Achondroplasia Dwarfism

     Hey! I'm feeling pretty good today. I went shopping for groceries when I saw a little person last week. I got really excited and she did too. She came over and we started to talk. I think that was the first little person other than me that I've ever seen. We exchanged contacts and she told me of this support group for people with achondroplasia dwarfism. There were actually two, one online and one that you can go to. If you want to join the one online, Click Here. If you want to join a support group based on your area here it is. I've been using them for the past week and I feel great. There are so many people in the world just like me! I went to go see one of the people on the website and we spent hours just talking about our disease. I felt so free and I've never felt so connected. You guys should try it. I swear you will feel great that you get to meet people just like you. A lot of these people have great advice, and they really support you with whatever is going. They have great advice because its kind of like they're looking at things from your point of view.

These are some of the people in my support group. Aren't they so cool?

     Hey I'm Barb and I am friends with Kay Kay. Since meeting her, my life has been better. We understand each other so much and I go through the same difficulties as her.  We help each other get through the hard times and hanging out with her is so fun. We do have our bad days but when we do, we go out for ice cream and chat. That usually makes us feel better.

My Fears of Starting a Family

2/14/15

My Fears of Starting A Family

     Hey guys! Today I'm not doing so well. It's Valentine's Day and I'm alone as usual. Honestly that's because I'm afraid to get out there and start looking for a guy. I'm just scared he will judge me if he isn't like me or only date me and not marry me because of my disease. I see couples all around and I feel a little jealous but also I have a pretty good reason for not wanting to be in a relationship. First, I love children. Seeing them just makes my day even better. Sometimes I watch Barney just so I can see the little kids running and playing and having fun. But since I have achondroplasia dwarfism, then there is a chance my child will have to suffer with the same disease as me. If I were to have a child with a normal guy, there is 50% chance that our child will have achondroplasia dwarfism. If I were to have a child with a guy who has achondroplasia dwarfism then there is a 25% chance the child will be normal, 50% chance of the child having one defective gene that causes achondroplasia dwarfism and a 25% chance that the child will have a deadly form of achondroplasia dwarfism called homozygous achondroplasia.

     Those odds just scare me, if I find someone just like me, there is only a 25% that our kid will be normal and a 25% chance that the child will die. Which means there is a huge chance that the child will suffer and have to deal with the torment that comes with achondroplasia dwarfism. I would hate to do that to someone. I really do want a child of my own and the best bet is to have one with a guy that's normal but I honestly don't think a normal guy would want to deal with me. I mean it's not like I can hide my disease and tell him later. My disease is very easy to spot. I am afraid that I will be forever alone and that no one will want me. At this point I'm willing to take anything. I feel like a guy like me will understand what I am going through better than a normal guy. We would probably have a stronger connection because we suffer from the same disease. If I do find a guy that has achondroplasia dwarfism, then I will not have kids with him. Even though it hurts me to say that, I cant do it. I can't live with myself knowing that I played a big part in my child having a normal life. The constant staring and ridicule is not something I would like my child to know of this world. Since I have the choice then I choose adoption. At least then, my child can have a second chance at having a family and living a normal life.

This shows the difference between a normal child and a child with achondroplasia dwarfism.

Treatments & Cures

3/8/14

My Doctor's Visit 

"Beep...beep...beep..."is the noise my alarm clock made at 5:30 this morning. Today I woke up earlier than normal in order to make it to my doctor's appointment on time. Being a person with achondroplasia dwarfism, I have to make frequent doctor's visits. I probably go to the doctor once a month in order to ensure that there are no complications occurring within my body. My doctor's appointment this morning was particularly interesting, which is why I am making a post about it. My doctor and I discussed treatments for achondroplasia and cures. 

There is currently no cure for this disease, although there are certain drugs being developed, drugs that could potentially be a cure. Many researchers in the United States and in many other countries are currently studying various drugs that they believe would be a cure for achondroplasia dwarfism, which really excites me. BioMarin is a a pharmaceutical company based in California. They have developed a drug called BMN-111. This drug could one day be a cure for the thousands of people, like me, who are living with achondroplasia dwarfism. According to Little People of America, the drug "has been shown to block the effects of too much signaling from the achondroplasia FGFR3 mutation" and when it was given to mice with achondroplasia, it "restored normal growth" in them. I cannot wait to see if in the future, BMN-111 is a cure for achondroplasia! Click Here to learn more about BioMarin and their drug. 😊😊

There are various ways to treat this disease. Every person with this disease is unique and every person has their own treatment plan, given to them by their doctor. Some people take hormones to increase their height. In some cases, surgery will be given to people with this disease in order to help their bones and correct abnormal curves in their spine. I have had 3 surgeries (one when I was a baby and one when I was a teenager) to fix abnormal bone growth in my spine. I do not take hormones to help be grow, and I visit my doctor very frequently. 

This morning, as my doctor explained, I most likely be living with achondropalsia dwarfism for all of my life, unless a cure is developed before I die. My doctor is a friend of mine and she told me that I need to value each day and not let my disability get the best of me. Life with achondroplasia can be very hard, always being so short and always standing out, but I will not let it get the best of me. 

1/20/2013: Social Difficulties Personal Difficulties Family Difficulties

11/20/2013
Struggles With Achondroplasia Dwarfism

Hey guys. As you know I have Achondroplasia Dwarfism. I have lived with it ever since I was born and it has been quite a wild ride. Having this disease has been a struggle. Growing up, there wasn't anyone in my family who had this disease so I was pretty alone. When I was little, I would run and play just like the other kids. Occasionally, some things were harder to do than others because of my disease but I never let it stop me. As I got older, other kids started noticing that I was different. It became harder and harder to make friends and my self esteem was really low. I tried a lot of methods to make myself grow but none of them ever worked. My family started to notice too. I thought by this point that my aunts, uncles, and cousins would understand my disease. Oh boy was I wrong. They used to blame my parents or me for giving me Achondroplasia Dwarfism. They said it was our fault that I turned out this way, that if they were better parents, I wouldn't be like this. This only made me feel worse. I could handle people at school who didn't know me saying mean things but my family who I've known for years, no. At some point I started to think it was my fault and that's been with me my whole life. So I usually try to stay away from people so that they don't judge me. I don't fit in with the rest of the world.

me as a little girl 

Being Bullied Because of My Disease

1.14.2015 

A Challenge I Overcame- Being Bullied Because of My Disease

I am three feet, eight inches tall. When I go out in public, people stare at me with weird looks on their faces. When I walk past young children, the ask their parents why I am so short while pointing right at me. I have gotten used to all of this. I know that when someone sees a dwarf, especially if it is for the first time, they will wonder why the dwarf is so short. When people ask me, I explain to them that I have a disease and that there is nothing wrong with my brain, I am just short. 

When I was in elementary school, children would ask question about my disease. They would never really make fun of me because of how short I was. At that stage of my life, we were all still growing. It wasn't until middle school when I really started to deal upset because of achondroplasia. At least once every two weeks, someone would make fun of me. Every time this happened, I would pretend like it didn't bother me that people would make fun of me at school. When I would get home after a rough day (I frequently had bad days), I would cry. My parents helped me to get through this. They encouraged me, told me that I was beautiful and that it doesn't matter how tall or how short a person is. 

My first day of high school  is a day that I will never forget...It was one of the worst days of my life. I walked into a classroom, went up to ask my teacher if I was in the right class when suddenly a boy yelled out "hey shorty! you don't belong in this school! go back to kindergarten, where you belong!!". I was humiliated! I ran out of the room and into the bathroom, where I stayed all day, crying. When school was over and I went home, my parents encouraged my to not let one boy ruin my life. I went back to school. There were good days and bad ones, days of being made fun of by my peers and days of people being kind towards me. 

BULLYING

During my sophomore year, I got evolved with a program that really helped me. The program is called Little People of America.  It gave me an opportunity to go to events full of people who are going through what I am- I made friends who have achondroplasia dwarfism. It was amazing to meet people the same size as me! People who go through the same struggles as I through, people who understand what it is like to be bullied because of how small you are. If you are a person with achondroplasia dwarfism, I would highly recommend that you meet, face to face, people who are just like you. For more information about Little People of America, Click Here.

Being bullied throughout middle school and high school is something that is very hard to go through. Never give up! If you are bullied, do not let it get to you. The bullies do not deserve to make you upset!!! :) I am writing this post because I do not want anyone to let other people ruin their life. 

Introducing Me... Kay-Kay

10/16/2012

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:

Click Here To Learn More About My Disease

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. 

What someone with dwarfism looks like compared to a normal, tall person