Blessings Come In All Sizes: Trying to keep up

Wednesday, September 16, 2009

Trying to keep up

Okay so tell me again why I decide to try and blog...I can't keep up with myself on a daily basis muchless try to keep this blog up todate. I feel like I need to make like 20 posts in one day to sum everything up and of course to bore you.

Okay, we are going from a wonderful summer of camping to a hectic fall in the matter of weeks. Logan started 2nd grade, Torie started pre-school. Along with both of them starting sports and mom and dad running around like crazy and my precious Landon along for the ride. He is so darn good.

Torie's soccer is more like swarm ball, but I think she is enjoying it. At first she wanted to quit and she gave me two reasons for wanting to quit: 1) being she didn't like to sweat and the 2) being she wanted to touch the ball with her hands.
Okay princess Torie those are not quiet valid reasons for quiting. Now that it is game time she is okay, because she gets a snack afterwards. She will do anything for junk food.

This is Logan 3rd year playing football and he loves it. He is the QB, #10 and he has tried very hard for that position. Gary has been his coach every year and of course after playing football himself for numerous years he is enjoying every moment.

We will be heading out to see Dr. Pauli next week...will let you know that goes. Hoping to meet Tonya and the kids on our way either to or from.

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What is Achondroplasia?

Achondroplasia is a common, nonlethal form of skeletal dysplasia (dysplasia - not normal), or a genetic disorder of bone growth. Depending on who you ask, statistics say that one in 25,000 to one in 60,000 births will result in Achondroplasia. Achondroplasia is one of the oldest recorded birth defects, dating back to the Roman Empire. It is characterized by abnormal body proportions — affected individuals have arms and legs that are very short, while the torso is almost like the size of an average child, and in some cases individuals have larger heads due to "frontal bossing".Before beginning to walk, a baby with achondroplasia often develops a small hump (kyphosis) on his lower back. This is due to poor muscle tone, and usually goes away after the child starts walking. Once walking, the child usually develops a markedly curved lower spine (lordosis or sway- back), and the lower legs often become bowed. The feet are generally short, broad and flat.Achondroplasia is caused by an abnormal gene located on one of the chromosome 4 pair (humans have 23 pairs of chromosomes).In some cases, a child inherits achondroplasia from a parent who also has the condition. If one parent has the condition and the other does not, there is a 50 percent chance that their child will be affected. If both parents have achondroplasia, there is a 50 percent chance that the child will inherit the condition, a 25 percent chance that the child will not have it, and a 25 percent chance that the child will inherit one abnormal gene from each parent and have severe skeletal abnormalities that lead to early death. A child who does not inherit the gene will be completely free of the condition, and cannot pass it on to his or her own children. In more than 80 percent of cases, however, achondroplasia is not inherited but results from a new mutation (change) that occurred in the egg or sperm cell that formed the embryo. The parents of children with achondroplasia resulting from new mutations are usually average-sized.The gene that causes Achondroplasia was only discovered in 1994, a mere 13 years ago, so much research is still being done to learn more about it. The gene is one of a family of genes that makes proteins called fibroblast growth factor receptors. Scientists have recently linked these genes with several skeletal disorders. While scientists are eagerly studying these mutations, there is much controversy from society at the outcome of the studies. Since the discovery, many couples have chosen to terminate pregnancies because of this.A few notes: Intelligence is entirely normal in people with achondroplasia.

The term "midget" is considered offensive in this day and age. The acceptable terms for a person with any type of dwarfism are person with dwarfism, little person, LP, and person of short stature, or simply by their name, as you would address anyone else. If you would like to know more: http://www.lpaonline.org/mc/page.do

Blessings Come In All Sizes

Wednesday, September 16, 2009

Trying to keep up

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What is Achondroplasia?