limitations

Achondroplasia affects our kids in a variety of ways. First this disorder holds our kids back from being able to do certain things easily, including, driving a car or even walking normally. Secondly its harder to find clothes, and sometimes we have to get their clothes altered. Thirdly and lastly, sometimes our kids get bullied, just because they are shorter than a normal human doesn't mean that you should treat them differently. Size shouldn't matter.
                            

Interest groups

--This disease is an autosomal dominant gene which i have been told means that only one gene needs to be passed down or needed to the disease to occur! But, It also means that it equally affects boys and girls and even ethnicities! Although this is true men with achondroplasia are generally taller than women with achondroplasia.
                                                              

Bibliography

 If you have Achondroplasia, or want to learn more about this disorder, here are a couple websites That helped my husband and I understand our children's disease:
1.http://ghr.nlm.nih.gov/condition/achondroplasia
2.http://www.medicinenet.com/achondroplasia/article.htm
3.https://www.genome.gov/19517823
4.http://www.lpaonline.org
5 http://ghr.nlm.nih.gov/condition/achondroplasia
6 http://www.stanfordchildrens.org/en/topic/default?id=achondroplasia-90-P01938
                               

What is Achondroplasia?

--Achondroplasia is a severe form of dwarfism. The word Achondroplasia "Without Tissue Formation". Which entails that during birth and young age tissue does not form. More specifically tissue does not correctly form some bones that are specifically related to dwarfism. Defects usually occur in the legs, feet, toes arms, hands, and fingers. The head and torso  remain the same size as they normally would be.
                                                                         

Treatment

--Achondroplasia is a disease that happens when a random mutation occurs so, there are no current treatments to prevent such mutations. there are many medical treatments to combat Achondroplasia like hormone therapy, which only increases hight very little. Surgeries may be taken to help bowing in the legs and it is very important to treat ear infections that are caused by achondroplasia to prevent deafness.
                                                  

other info

Little People Of America and The MAGIC Foundation are support groups available for those people who have Achondroplasia, like our children. The MAGIC Foundation gives support to those with growth disorders and Little People Of America provides information about this disorder and helps kids with Dwarfism (Achondroplasia) find homes, but it isn't an adoption agency. We also have some pictures of what  our kids look like.
                                      

                                         Gwendolyn                               Alfie                               Pippa

diagnosis

Achondroplasia can appear before symptoms do, by looking at how long their legs and arms are. The disorder can also be detected prenatally (before birth) by an ultrasound. Thirdly there are no ways to detect if there is a carrier of this disorder, because it is an autosomal dominant disorder. DNA testing is now available before birth to confirm fetal ultrasound findings for parents who are at increased risk for having a child with Achondroplasia. Before birth Achondroplasia can be confused for many other diseases, this is why DNA testing is so important. There is no possibility for there to be a carrier of the gene so either you have the gene or you do not have it.

Here are the legs of  Gwendolyn, in X-ray form.

Clinical Description

My husband and I, new our kids had Achondroplasia, because of some features. These features include: a short stature, short arms and legs, large head compared to the body and an abnormally large forehead. This disease makes it hard to do everyday things, like riding a bike, and driving a car and this disease is external, meaning it affects the physical appearance of your body. The life expectancy of someone with this disorder is the same as a normal human being and this disease is physically limiting.

                                                                                    

Inheritance

--Achondroplasia is the result of a new mutation in the FGFR3 gene. It is Inherited through an Autosomal dominant pattern. Meaning that only one faulty gene is needed to express the gene. 80% of achondroplasia cases involve two normal parents giving birth to an affected child because of a new mutation that occurs during meiosis this. The new mutation occurs in every 15,000-40,000 live births in a population.                                                                                                                                                                                                                                                                                                                                                  

Our story

--My wife and I were born in Bristol England as normal as possible. We got married after we met each other on Christian-Mingle.com. In the year 2009 may second my wife gave birth to our child Alfie. As soon as the doctors saw him they knew something was wrong. He had disproportionate body parts. His arms and legs were short, his head was too small for his body, and his torso was normal. He was born with Achondroplasia(dwarfism). We accepted him for who he was and in 2011 and 2013 we game birth to  two girls named gwendolyn and pippa who also have the disease.