NOAH AOC

This is what my dr. said. I haven't found anything that supports this so I don't know what he is looking at.

My daughter is 13 m. old and has OCA.  I am not sure what type, I think OCA1b.  I would love to have that tested too.  She had a nose bleed in the middle of the night last week and she keeps diarrhea.  I called my dr. again and he said it would be difficult to test for.  Everything he has read says that only Jewish and Puerto Rican people have HPS.  I was like,"what?"  Has anyone heard of this?  He told me that they could test to see if she had any blood in her poo if I brought in a "fresh" diaper next time she had diarrhea and that they could have her colin looked at to see if she had colydis (sp?)  I am just like why can't I just send her blood off somewhere to get it tested. Please give me some advice and info.!!!!

 Angie,

HPS does have a higer prevelance rate in the Hispanic population, but any race can have HPS.  It can and does occur in every race.

Vickie

 Angie,

Contact Lori at info@albinism.org and she'll put you in contact with Donna Appeall who runs the HPS network. Donna also is the mother of a children with Albinism.  Yes, the easy answer is you can get testing for HPS and they will give you all the informnation you need to where you have to send the blood because the little understanding I have for HPS is the blood as to be read under an electron microscope.There is link directly from the HPS Network at www.hpsnetwork.org explaining how the diagnosis of HPS works. 

http://www.hpsnetwork.org/en/hps-information/diagnosing-hps

http://www.hpsnetwork.org/en/hps-information/characteristics

http://www.hpsnetwork.org/en/hps-information/standard-of-care

http://www.hpsnetwork.org/en/hps-information/what-is-hps

I hope this links are helpful. 

 

Some Doctors are idiots.

 Is there more prevalence in Jews?  My daughter has albinism and I want to get her tested.  We are ashkenazi jews (both me and my husband).   We have an appointment with Dr. Hertle next week - is he a fan of testing for HPS or do I need to jump through hoops to have her tested at my pediatrician (who didn't even believe me when I told her my daughter has albinism).

My 3 sons have HPS4 and they participated in a study that Dr Gahl did and it showed that they had the same markers as another lady who was an ashkenazi jew who also has HPS4. So it's possible for your child to have, HPS. My kids doc took the blood and sent it off to get it tested at no cost to me whatsoever. I then asked Dr. Gahl if he would test me to see if it was I or my husband who had the "Jewish" marker, and it turns out it was me. I have been trying to get Dr. Gahl to get me in touch with this other lady but she doesn't want contacted for some reason.

This is a huge misconception about HPS - that it only occurs in people of Puerto Rican background. It occurs in all nationalities. HPS type 3 seems to be most common among people of Jewish background, but yes, we do have a 4 in there too. As for testing, I think every kid with albinism should be screened for this - kind of drives me nuts that it's not simply a matter of routine.