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Sep. 12, 2016

TOPIC: Get Involved, Patients & Members, Research

Penn State Graduate Rare Disorder Survey

Posted by Christina Jensen

Written by: Kerri Nelson, graduate student at Penn State University and mother to a child with a rare disease.

masonAs both a mother to a child with a rare disorder and a healthcare professional, I was at loss for words when my son was diagnosed.  There was little to no educational materials and emotional support given to me at the time of diagnosis.  I was left alone to navigate the world of the internet for information and support.  Fortunately, I quickly found a Facebook support group, where I was able to lean on other family members going through similar situations.  This was the moment that I decided a systems change needed to be made in the rare disorder community.

When I began my Doctorate of Nursing Practice, I found the National Organization for Rare Disorders and felt that this organization would have been beneficial 2 years prior when my son was diagnosed with a rare disorder.  I took that opportunity to design and implement a Rare Disorder Toolkit to be disseminated to patients and families at a specific Academic Medical Center as a pilot study.  The purpose of the evidence based project was to develop an informational toolkit that contained resources to improve knowledge and access to NORD’s website and to evaluate its effectiveness in improving access to the organization’s resources.

This is what brings me to the below survey.  I am interested in knowing 1.) how you learned about NORD and 2.) details about the population NORD is reaching.  This will allow me to understand if the Rare Disorder Toolkit is beneficial to those receiving it, and for those who have not received it, where I should take this in the future.  Please take a moment and complete the survey (link below) to help me make a change for the rare disorder community.

Click Here: Rare Disorder Survey
hosted by Kerri Nelson

9 Responses to “Penn State Graduate Rare Disorder Survey”

  1. Jan says:

    I do not remember exactly how I stumbled upon NORD many years back. I had an elevated ANA and was told it could be fibromyalgia or lupus. I believe I started to Google each diagnosis and ended up at NORD. I love to do research and tend to refer to NORD anytime I hear of a malady I am unfamiliar with.
    PSU 1973

  2. Carol says:

    I was diagnosed about a year ago with CAD Cold Agglutinin Disease, on a pre-op blood test for possible blood transfusion. I am a CT Scan/ X-ray tech but had never heard of it so I started a Google search for information on the disease. Some where in my hours on the internet I came across NORD. Interesting a few months later my husband developed a different rare disease, achalasia a nasty disorder of the esophagus. So NORD came in handy again.

  3. Barbara says:

    After having multiple surgeries, shots, epidurals, cortisone shots, and everything you can imagine, my husband and I made a decision to move south for my health thinking warmer climate would help because of all the titanium/metal in my body. Thinking better health care would be available. Boy were we wrong. I have chronic pain from the multitude of surgeries and surgeries gone wrong, Peripheral neuropathy, I am constantly looking for help after my pain mngmt. doctor told me there is nothing he can do for me because my ddd has move to my T1 and T2 level, but he wants me to go off pain meds. I have complied with everything during my time, therapy, hypnosis, biofeedback, I was always an athlete until my hip injury, I meditate, ride a bike, try to do yoga but if I cannot get out of bed without a pain pill to help me I cannot accomplish the above. I am only 52 and my doctor more or less told me to live with it and take aqua aerobic or physical therapy. I have been down that route. I use a tens machine and heat and ice everyday. A couple of years ago I was diagnosed with ANA but my doctor was not too concerned after 3 tests became positive. I am constantly looking for solutions or alternative. That is why I came to your site. Thank you for your help.

  4. Rosemary says:

    I have known for some time that I have Ehlers-Danlos Syndrome, but I also had additional symptoms which could not be explained by that, I thought that I must have inherited my father’s hemochromatosis, but the geneticist I saw thinks I have Fabry disease instead. In any event, I am glad to have discovered this site from a link on the NINDS/NIH site.

  5. Camille says:

    I discovered NORD through many different avenues. My older brother has MSUD and through the family support group, we learned a lot about NORD and the awareness it brings to rare diseases. I also have done various projects for school regarding my brother’s disorder and so I’ve used the NORD website to navigate resources. Currently, I work as a nurse at a children’s hospital in Chicago and therefore have learned a lot about other rare disorders so NORD is a great way to me to teach parents and families about their child’s diagnosis.

    NORD is wonderful and I hope to become a more active member!

    • Christina Jensen says:


      Thank you so much for your kind words. We are humbled to provide these valuable resources to the rare disease community. I am happy to hear that they were helpful to your brother as well. If you are interested in getting more involved, please learn more about the Rare Action Network and the Running for Rare team. These initiatives are two great ways for rare disease advocates to get involved and become more active in the rare disease community.

      Thank you!

  6. Rudy says:

    I have been living for almost 27 years in limbo, thinking that my family and I, 4 members were infected by HIV! as I had a blood transfusion many years ago and as the symptoms we have had are very similar to HIV, but all the tests have been negative
    After almost 27 years of uncertainty and despair I typed for rare diseases on the INTERNET and there appeared NORD organization and the list of rare diseases,I spent much time and read about almost all the disease and when I ran into HTLV, it matched with all the symptoms we have, I feel almost sure that HTLV is my family’s problem .
    And as we live in A developing country we have felt desperate these last 27 years, being rejected by people and ignored by doctors
    I hope soon we can find a solution to our proble

  7. Sammi Sardinha says:

    I found NORD via a support group on Facegroup for EDS (Ehlers-Dalos Syndrome). Another member suggesting reaching out to NORD to help/assist with navigating state insurance and treatment of this rare disease. BTW, We ARE…. Penn State!!!