For most of us, when we go to the doctor with symptoms, we are diagnosed and treated.  Imagine going to the doctor and being told there were no answers as to why the symptoms were occurring.  Then imagine, this is your child and all the specialists referred to have no answers.  What if you were told this was a rare illness and no one knew how to diagnosis it?  What would you do?

This is the story Heather Long is going to talk about on this week’s show.  One of Heather Long’s three children (Cal) passed away in 2006 at five years old to an undiagnosed disease. Heather was told that her son’s death was likely caused by a very rare metabolic disease, and she has since focused her energies on being an advocate for patients suffering from undiagnosed and rare diseases.

In 2008, Heather co-founded a nonprofit organization, U.R. Our Hope., that assists individuals and families who are on the journey of finding a diagnosis or are navigating through the health care system after a rare diagnosis. In 2011, Heather co-authored H.R. 2671- The CAL Undiagnosed Diseases Research and Collaboration Network Act, which was proposed in the 112th Congress and is scheduled to be re-introduced during the current 113th session. And recently, Heather proudly joined the Global Genes Advocacy Leadership Group.

1 thought on “A Child’s Rare and Undiagnosed Illness: Listen in Today at 6:00PM”

  1. Teresa Larra says:

    I need help! I have a 6 month old who is undiagnosed! My daughter goes into respiratory failure when she sleeps, becomes hypothermic, her heart slows down, and ends up on a ventialor for less than 12 hours than she is back to herself. She had a carnitine deificiency (now resolved), has a Chromosome 22 Deletion (22q11.2). The doctors have now accused me of Munchasen By Proxy and my daughter has been taken from me. I don’t know what else to do to get my daughter diagnosed. Please help me.

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