We are looking for rare and genetic disease patient advocates to submit their stories of hope and inspiration to the Global Genes Project website. We will publish these stories on our blog to help raise awareness for your specific rare diseases.   Submit your story.

Many of the people living with rare diseases and disorders didn’t even know these diseases existed until they (or a family member) were diagnosed. Families are struggling to understand the problems that impact their loved ones because doctors, nurses and the public are under educated or misinformed about rare diseases.  We have a lot of educating to do!

By highlighting your story, our hope is to continue to raise awareness of rare and genetic diseases and strengthen the voice of patients and advocacy groups.

Learn more about how you can get involved and begin to take action against rare and genetic diseases!
https://globalgenes.org/get-involved-3/

 

2 thoughts on “Advocate For Your Rare Disease or Foundation – Submit Your Story To Global Genes”

  1. Elizabeth Corbin says:

    My name is Elizabetgh Corbin. I am a single parent of two boys, and a graduate student at Montana State University.
    My eldest son was diagnosed at age five with Homocystinurea – a defect of the cystathionine B Synthase enzyme. He was diagnosed as a result of his progressive blindness, which started in Kindergarten, and continued to get worse over two years, until he was completely blind due to the loss of the lenses from his eyes. He had a surgery to correct this, and shortly therafter began having seizures. The seizures continued, unaffected by medications, until another surgery corrected them. Meanwhile, the Homocysteinurea was diagnosed, and treatment began. Unfortunately there is no effective treatment for most Homocystinurea patients. Their blood contains too much of an intermediate product of cysteine metabolism, which is both and oxidant (burning agent) and a coagulant (clotting agent). My son was being burned by his own blood.
    As a parent, I began a quest to help my son. It began with the battle for eye and brain surgery – a three year process, and continues today, as I have progressed to graduate level research in Biochemistry in the search for a way to help my son, and the many others out there with rare, genetic enzyme disorders.
    The search has lead me to the development of a robust, reliable technique for producing stem cells from individual patients, for gene therapy, differentiation, and retransplantation. This promises to be a platform by which many, if not most genetic diseases may be treated and even cured.
    My project is new, and so not yet fundable by NIH, NORD, or other federal sources. I am seeking funds (goal $30,000) to fund this first year of the project, and get the initial data necessary to qualify for federal funds.
    If this organization, or any individual associated therewith, is interested, or knows of another source I may apply to, please contact me at ecorbin610@gmail.com, or (406) 994-3713 (lab), or (406)556-5806 (home). I am passionate about finding this platform, by which we may use the cells of the patient to cure the patient. It is within our grasp. Please contact me with any questions or input.
    Thanks you and God Bless

  2. Hi Elizabeth

    Thank you for contacting us here at Global Genes | R.A.R.E. Project. Your information has been forwarded to our Disease Detective Program and you should expect a response via e-mail very shortly!

    All our best

    – The Global Genes Team.

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