Valerie Friedman RN and Director of Medical Affairs for the Hermansky-Pudlak Syndrome Network, is tracking several medical issues we’ve noticed among the HPS community. We DO NOT know if they are in any way related to HPS, but would like to collect data that, if significant, could be shared with HPS researchers. If you have any of these medical issues, please e-mail Valerie at firstname.lastname@example.org and let her know so that she can add it to your profile in our membership database:
- Rheumatoid Arthritis
- Multiple Sclerosis
- Kidney disease
The HPS Network is also tracking people with albinism who have too many dense bodies to meet the diagnostic criteria for HPS currently, yet do not have a normal number of dense bodies on their platelets. They should also not have a genetically diagnosed other type of albinism such as OCA1 or OCA2. We see an increasing number of people who fall into this category and are interested in identifying whether these cases could be a new type of HPS or another form of albinism.
Valerie is also interested in hearing about any medically significant bleeding events before an HPS diagnosis was made. These stories would be used for presentations about why accurate diagnosis of HPS is so important.
If you can help, please don’t forget to e-mail Valerie at: email@example.com