Thursday, June 25, 2009
I love the colors and the lines! To see some more great captures head over to Beth's!
Thursday, June 11, 2009
Wednesday, June 10, 2009
GO TEAM NAVY!!!!
Well, this past week has been fairly good for me. I have not done the best working out, but I have done pretty good eating. Still I managed to lose 1/2 a pound! Yay!
My goals for this coming week are to actually get up before my children in order to exercise and to continue eating healthy.
Thursday, June 04, 2009
Hannah is a picker. She picks at the seams when she is falling asleep.
While Alex loves to feel the tag.
Wednesday, June 03, 2009
Here is what Dr. Pauli had to say about Hannah:
He was quite excited to see her because he thought she would be somewhat of a "medical mystery" due to her past. Her FGFR3 gene was tested for achondroplasia and hypochondroplasia when she was younger and it was negative. So either she is one of the very rare individuals with some other mutation in FGFR3 or she has hypochondroplasia, which only 60% of individuals with hypochondroplasia have an identifiable mutation in FGFR3.
He reviewed her past x-rays and CT scan. He noted that the CT showed her foramen magnum to be small for average height children, but quite large compared with standards for achondroplasia. The features he saw on the x-rays are intermediate between those classically seen in achondroplasia and those that would be most consistent with hypochondroplasia. Due to the fact that she has had no medical issues related to achondroplasia, he thinks that hypchondroplasia may be the correct diagnosis in her.
He did a complete physical exam on her, noted all of her features and said based on the combination of her radiological features and clinical characteristics, the appropriate diagnosis would be hypochondroplasia. He also said that if we wanted to find out if this was the correct diagnosis we could pursue other testing, like sequencing of the entire FGFR3 gene. However, he also said that we could just wait since the primary justification for molecular confirmation relates to Hannah's reproductive risks rather than medical issues. So, I think for now we are just going to wait and accept her clinical diagnosis.
He went on to explain that there are far fewer issues with individuals with hypochondroplasia than those with achondroplasia. We have 4 things to watch: growth, ears/hearing, respiratory characteristics (some develop sleep apnea) and bowing of legs. He also mentioned that there has been some research showing a correlation between hypochondroplasia and learning disabilities, however in his words, "She certainly does seem to be cognitively normal."
We were quite pleased with Dr. Pauli and his knowledge and look forward to seeing him again in the future!