Achondroplasia

My Doctor's office called first thing the next day to schedule a follow-up appointment with my Doctor the following Monday.

Actual Date: November 22, 2010: At that appointment, she basically asked us if we had any questions about anything that we had been told at the Specialist. Again... we had about a million, but weren't sure if even she could answer them. We mainly wanted to know what this meant for the remainder of my care and any other resources that we could use. As for my care, she reassured me that I could stay with the practice and that everything would continue as planned (scheduled c-section because of my 1st one, regular appointment visits, etc.) and that we would just increase the monitoring of the baby. As for other resources, we told her that we'd already checked out the Shriners and March of Dimes websites along with a few others. She said that she would check into this and let us know what she found as this was fairly new for her too. She asked to see me back in one week - when I had an appointment scheduled with other doctor who I'd seen during the initial ultrasound.

I received a call the very next day from the nurse saying that my doctor had found a website for parents who had received a poor prenatal diagnosis: benotafraid.net. I was amazed that she had begun her research so quickly! And felt good about being in her care and that she would take the time to find us some resources.

Resources we found useful:
http://www.marchofdimes.com/
http://www.shrinershq.org/
http://www.knoahsarc.org/
http://www.benotafraid.net/

There are many other resources out there if you just Google "achondroplasia," but just beware that some are not accurate or do not present information in a consistent or respectful manner.

ACHONDROPLASIA (adapted from the March of Dimes Website):
"Achondroplasia is a genetic disorder of bone growth that is evident at birth. It affects about 1 in 15,000 to 1 in 40,000 births, and it occurs in all races and in both sexes. Its depiction in ancient Egyptian art makes it one of the oldest recorded birth defects. Affected individuals have arms and legs that are very short, while the torso is nearly normal size. In individuals with achondroplasia, something goes wrong during the cartilage formation process, especially in the long bones (such as those of the upper arms and thighs). Most individuals with achondroplasia eventually reach an adult height of about 4 feet."

"Individuals with achondroplasia usually have normal intelligence and a normal life span. However, affected children have a number of medical complications that can affect their development. Babies with achondroplasia have poor muscle tone, often leading to delays in learning to sit, stand, and walk. Occasionally, a baby or young child with achondroplasia may die suddenly, often during sleep. This occurs in 2 to 5 percent of affected babies.Adolescents and adults with achondroplasia often develop low back pain or weakness, tingling and pain in the legs. This often is due to pressure on the spinal cord from a small spinal canal (called spinal stenosis). Health care providers closely monitor the growth and development of children with achondroplasia. Though there is currently no way to normalize skeletal development of children with the disorder, most complications can be effectively treated."