It took me a lot of time to address my silent readers and I am so glad I did. One of them, we will call her B. has written to me and shared with me a study that I wasn't aware of before. It is fairly new, it was published in the Journal of Pediatrics last October. And I am too excited not to share it straight away.
The abstract is here: http://www.ncbi.nlm.nih.gov/pubmed/22137367
For 4 USD you can read the whole article on Deepdyve...
It is a small study, involved 6 children, BUT:
- it is specific to one of the most common mutations of HCH: the N540K mutation, (c.1620C>A)
- It is the longest study to my knowledge, it published 7 years into it
- will go on to monitor adult height until 2020
If you do take the time to read the whole study, I strongly recommend that you look at the references as well and look them up as it is pretty exhaustive. Pay special attention to the Katsumata study...
Perhaps even more importantly, B's daughter has started treatment with one of the author's of the study and we are discussing what the best way would be to get their experiences shared, stay tuned... - No pressure, B... :-)))
Petite yet fierce - Ramblings of a pathologically information hungry mother about hypochondroplasia, about rearing 3 girls in a foreign country and about all the random thoughts my sleep deprived and over-stimulated brain can come up with.
Hmmm...the link doesn't work.
ReplyDeletesorry, it does now, bloody blogger added the word blogger to it....
ReplyDeleteThanks...it works now. Going to print this and bring it to our appt next month.
ReplyDelete