subscribe
A Rare Lysosomal Storage Disease
Contact: info@npcfund.org

NNPDF COLLABORATIVE STUDY – KAREN QUANDT, RN, MN

NNPDF COLLABORATIVE STUDY – KAREN QUANDT, RN, MN

Karen Quandt is the Board Chair for the NNPDF.org.  A few years back she was completing a study about neurodegenerative disease in family members of patients with Niemann-Pick Type C (NPC). There differently is a relationship between NPC and other diseases. At this given time ,the current discoveries  that scientists  are making to further develop treatments  for NPC are providing critical insights into our understanding relating to a few of the most common diseases that have been shown to be debilitating to life.

Thank you Karen for allowing us to share.

———————————————————————————————————————————

NNPDF COLLABORATIVE STUDY – KAREN QUANDT, RN, MN

Neurodegenerative Disease in Family Members of Patients with Niemann-Pick Type C

Final Progress Report – Lay Summary

Thank you to all the families that participated in my recent research survey. Thanks also go to the National Niemann-Pick Disease Foundation, The Niemann-Pick Disease Group of the United Kingdom and to the Ara Parseghian Medical Research Foundation, all of whom assisted with this survey. Today I closed the survey titled, “Neurodegenerative Disease in Family Members of Patients with Niemann-Pick Type C”.

Here is a summary of the results:

  • 57 families answered the survey
  • 29 families had a family member with another neurodegenerative disease- 50.9%
  • 28 families did not have a family member with another neurodegenerative disease – 49.1%
  • Summary of other neurodegenerative diseases that the families have in their health history:
  • 17 cases of Alzheimer disease- in 14 different families
  • 8 cases of Amyotrophic lateral sclerosis-(Lou Gehrig’s disease) – In 6 different families
  • 8 cases of Parkinson disease
  • 4 cases of Multiple Sclerosis – in 3 different families
  • 2 cases of Huntington Disease- in the same family
  • 1 case of Multiple System Atrophy
  • Several families had 2 different neurodegenerative diseases in their family health history.

I discussed the findings of my recent Niemann-Pick type C (NP-C) family health history survey of neurodegenerative diseases with Dr. Ellen Sidransky and Joie Davis, nurse practitioner, both of whom work at the National Institutes of Health.

Dr. Sidransky and Joie are interested in investigating the possible association of Parkinson’s disease, ALS (Lou Gehrig Disease) and Alzheimer’s disease (diagnosed before the age of 65), present in the families who also have a relative with NP-C.

Thank you,

Karen Quandt, RN,MN

Ty & Karen Quandt

http://www.nnpdf.org/familyservices_15.html

Leave a Reply

Email Address First Name