Wednesday, June 03, 2009

Hannah's Story Part Two

We finally got to see Dr. Pauli!! For those of you who do not know, Dr. Pauli is on the Medical Advisory Board for LPA and has several articles published about dwarfism. In fact, he is a renowned specialist in the dwarfism community!

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!