Hands on a Miracle: In the Beginning

Wednesday, March 12, 2008

In the Beginning

We sat with the geneticist on Feb. 16th and listened as he told us Brandy's baby definitely had some type of dwarfism (we knew something was wrong in December) and that they did not think his chest size would be compatable with life. Sitting with Brandy through that conversation was the hardest thing I've ever done in my life. I tried to contain my tears and be the strong one while I was with her. But I remember after leaving her at home, being in a daze the remainder of the day. I went to my best friends house and cried into the night. And there was a lot of crying for the next month.

My how things have changed. It has been a long hard road, but I believe God has a plan for Bryan, I believed that all along. He has already changed my life tremendously. God and Bryan, that is.

2 comments:

Charms said...: Hi guys!!!!!!!!! the family just gets bigger and bigger.

I think its great that you started a blog for Brian, Tonya sure knows how to start a good thing!!!

now we get to see what little Brian gets up to

luv and hugs
Little Leah; March 28, 2008 at 4:29 PM
Candi and Skeet said...: Candi! I am so glad you have joined "the Bloggers". Is it okay if I add your blog to my favorites?? Have I told you how adorable Brian is??? He is such a cutie!

Love,
the other Candi; March 29, 2008 at 11:19 AM

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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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Wednesday, March 12, 2008

In the Beginning

2 comments:

Support for New Parents

Achondroplasia