Hands on a Miracle: Pics at last...technical difficulties...arrrrrgh!

Thursday, July 30, 2009

Pics at last...technical difficulties...arrrrrgh!

5 comments:

Kim said...: Oh it was worth the wait. Bryan is just precious! I love all the pics. They are just sweet as can be! Just want to squeeze him he is so cute!; July 30, 2009 at 8:00 AM
Laura Wolf said...: Loved all the pictures. Bryan is such a cutie! I'll have to try getting Nate to hold his sippy cup that way so he doesn't spill. He still wants to tip it over with the straw in.; July 30, 2009 at 8:29 AM
Destini said...: Oh, I am lovin me some Bryan pictures! He is soooo stinkin cute, and looks like he is doing well and is healthy! And does his shirt say "I only cry when ugly people hold me"!!!! Tooo much!!!!; July 31, 2009 at 10:05 AM
Kelly said...: He is absolutely adorable...I want to squeeze him.; August 14, 2009 at 7:46 AM
Kerri said...: what a doll!! love your blog!; April 15, 2011 at 12:29 AM

Support for New Parents

If you have come across my site because you are a new parent of a child diagnosed with dwarfism, I encourage you to check out Tonya's site - "What is Normal?". I cannot say enough about the great work she does educating and supporting parents of children with dwarfism. "What is Normal?" is full of great information on dwarfism of all types and if the information is out there Tonya more than likely has a link to it. She is a wonderful advocate for our children so please don't forget to thank her if you find something useful on her site.

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 more nearly normal size, 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 normal-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

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Thursday, July 30, 2009

Pics at last...technical difficulties...arrrrrgh!

5 comments:

Support for New Parents

Achondroplasia