Hands on a Miracle: It's on the list....

Monday, July 27, 2009

It's on the list....

To my two dear friends who have no boys, this is why mothers of boys have that "the lights are on, but nobody's home" look in their eyes, even years after all the boys have left the premises.

I had every intention of updating this site tonight, but after:

driving 4 hours while entertaining a 2 year old in a 2 seater roadster before the sun came up,

attending the first day of PT when said 2 year old and PT are trying to decide who's boss,

catching up with and commenting on all the facebook friends I love and adore and can't wait to wake up and hear from each morning,

doing 6 loads of laundry and making changing sheets on all the beds to prepare for the next round of guests,

cooking a meatloaf, mash potatoes, corn and biscuits for hungry baby daddy that just arrived from offshore,

watering the plants that were sizzling in the 105 degree Texas heat with no water for 4 days while caretaker was living the life of Riley (who is he anyway, and why has he not written a book?),

going to Yoga to further enlighten oneself so as not to guilt generation currently being reared,

I am too dadgum tired to be creative and download the 10,000 pictures I took of my adorable, beautiful, healthy grandsons this weekend. Even though my favorite thing in the whole wide world is showing them off and sharing them with the world.

Maybe tomorrow.

O.K. Here's a sneak preview.

2 comments:

Kim said...: Argh. I tried to leave a comment and it erased. I know that feeling of coming home to a million and one chores. Although I do need to see those pictures though! LOL!; July 29, 2009 at 9:23 AM
Destini said...: Wow, I hope you got some rest! Now, onto those pictures.... we're waiting.... :); July 29, 2009 at 12:17 PM

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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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Monday, July 27, 2009

It's on the list....

2 comments:

Support for New Parents

Achondroplasia