Achondroplasia: The Little People of the World

By Grayson Gouldman and Ryan Hickey

A boy named Pate Withrow battles a disease called Achondroplasia.

         Achondroplasia is a disease, also known as Dwarfism. Some effects of this disorder are an unusually large head with a large, prominent forehead, flat, short upper arms and legs. Other affects can be an unusually large abdomen and buttocks, and short hands with fingers that look like a "trident" or three pronged position. People with this disease can also sometimes be obese, or overweight.

            This disorder is caused by a gene change also called a mutation. Genes are part of your body's cells that store instructions. Achondroplasia may be inherited as an autosomal ( a chromosome that isn't a sex cell) trait that is also dominant, which means that if the child gets the defective gene from one parent, the child will have the disorder.  This disease also does not have a specific chromosome that is effected.

Two twin boys, one of them having Achondroplasia.

Sadly, the death rate of people with this disease is around 717 deaths per year, roughly around 40%. One in 25,000 people will be born with this disease. The survival rate of this specific disease is roughly around fifty percent. There are currently no specific treatments for this disease, although scientists are working on a medicine that will help the bones become stronger and larger for people with Achondroplasia.

This a picture of a man with Achondroplasia.

There are some positive or neutral things about Achondroplasia. Most humans with Achondroplasia are double jointed. Also, dwarfism does not affect the brain or intelligence.

Punnet Square for Someone With Achondroplasia Marring Someone Without This Disease

This is a story about a family with achondroplasia:

“Trent and I always knew we wanted to have a large family. We both have Achondroplasia Dwarfism, and we knew we would encounter risks genetically as well as challenges with my four foot tall body handling pregnancy. After the births of our first two children, I knew my body could not tolerate another pregnancy, but our dream of adding to our family was still conceivable through adoption. Trent has two older siblings who were adopted; therefore adoption was already close to his heart!

“In March 2004, I received an email asking us to help find a home for an orphan in Russia with Achondroplasia Dwarfism. I was a district director for Little People of America, an organization that provides support and information to people with dwarfism, and I was more than happy to help. I asked for more information on the child and as we read her bio, we completely felt as if she was one of our children. That very night, we began our adoption journey. When we went to meet Anna, the director of the orphanage tearfully told us how happy she was for our daughter to have the family she deserved.

“In December 2005, we received a phone call asking the same question, “Do you know of a family who would be interested in adopting a baby boy with dwarfism from South Korea?” Our oldest son longed for a brother, but I thought to myself, “Can we do this again?” The agency sent pictures, medical diagnosis and a video, and we soon began the process of adopting our son Alex. This adoption process was very different from Anna’s. We hit a major road block early on as fees needed to be paid in the very beginning of the process; therefore we did not have the funds or the time to raise funds. I spoke with the pastor of our church and he suggested raising the funds over the next several months. Overcome with emotion, I explained we did not have weeks or months! We were blessed to see the funds come in quickly through the help of a Show Hope adoption aid grant and the amazing generosity of a couple at our church, and we brought Alex home in May 2006.

“Shortly after our son’s arrival, my husband and I had a long conversation regarding Alex ethnically looking different than the rest of our family. My husband felt very strongly that it was important for our family to adopt a second Asian child with dwarfism. Over time, I really began to agree with Trent. In October 2009, I received a call about a beautiful little girl awaiting a family in an orphanage in China. A year later, Trent and I boarded a plane to Beijing, China. We were on our way to bring our daughter Emma Lee home, again with the help of a Show Hope grant!

“Now, just over a year later, everyone is doing marvelous. Our family would like to thank all of the Show Hope sponsors and donors from the bottom of our hearts for monetarily contributing to Show Hope. Without the assistance and support of Show Hope throughout Alex and Emma’s adoption, we could not have fulfilled our dream to provide unconditional love to children with no hope. Trent and I know we are so blessed to be the parents of five awesome kids. Thank you!”-Amber Johnston

Citations

  1. Achondroplasia: MedlinePlus Medical Encyclopedia. (1997). Retrieved from

http://www.nlm.nih.gov/medlineplus/ency/article/001577.htm

2. Result Filters. (n.d.). Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/178799673.

3. Achondroplasia. (n.d.). Retrieved from http://www.stanfordchildrens.org/en/topic/default?id=achondroplasia-90-P01938

4. Genetic Basis of the Osteochondrodysplasias. (n.d.). Retrieved from http://en.wikipedia.org/wiki/User:SaswatPanda/Genetic_Basis_of_the_Osteochondrodysplasias

5. Achondroplasia Dwarfism. (n.d.). Retrieved from http://doctordecides.com/achondroplasia-dwarfism/

6. Five-year-old Pate Withrow Battles Achondroplasia, Proves Big Things Come in Small Packages. (n.d.). Retrieved from http://www.littlerockfamily.com/post/27590/five-year-old-pate-withrow-battles-achondroplasia-proves-big-things-come-in-small-packages

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