OK, I have been e-mailing with some mums and realized that I have never posted the link to Dr Pauli's HCH file. It is by far the most comprehensive file that it out there. It is on the LPA web-site, but let me post the direct link, because it's a bit hard to find...
So here it is.
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.
Thanks for posting this. I'm going to save the link and read it over when I don't have a certain someone climbing over me ;)
ReplyDeleteThank you so much. Belalu had neonatal seizures and I think I already told you our geneticist tried to tell us it was definitely not connected to the hypo.
ReplyDeleteSorry- meant to continue... this just confirms for me that we need to go see Dr. Pauli.
ReplyDeleteHi Noella, when he is asleep perhaps :-)
ReplyDeleteVanessa,
ReplyDeleteThe thing with the neonatal seizures is, that they normally appear before 6 weeks of age (hence the name) and HCH is not typically diagnosed until a lot later, so no wonder that only doctors with lots of experience know about it. If you want to take something to your paed, print out this document, also, I posted in the seizures section the abstract of Dr. Pauli's research on seizures.
Thanks again for posting. I was able to read over it, and I am sure I will refer back to it.
ReplyDeleteWhen you have a moment, could you please email me (n_king @ shaw. ca). Thanks. (I added spaces in the email address)