My story is as a mom of someone with an undiagnosed condition.
Undiagnosed. It's a misnomer. Being undiagnosed does not mean that you are without a diagnosis. Quite the contrary, it often means that you have many diagnoses, just not one that explains them all as a package. A dozen years ago, when I lived for the next specialist appointment to learn what my daughter's diagnosis was, I realized that a name for her umbrella diagnosis did not yet exist. As a mom, I didn't know anyone that shared similar experiences with me and I was left on my own to find the doctors and researchers who might offer answers, to find parents who shared my lived experience. I applied to the Undiagnosed Diseases Network (UDN) in 2016 and brought my daughter to be evaluated at Harvard in 2017. That same year, i was invited to join in a tiny patient-family community to act as an advisory to this NIH funded program called the UDN. Incredibly, this tiny group of 10 patients and families with the blessing and support of the UDN partners and the NIH, set out and formed what is now the Undiagnosed Diseases Network Foundation whose mission is to increase access to diagnosis, research and care for all those living with undiagnosed and ultra-rare diseases.
Meanwhile, in the midst of the birth of the UDNF, my own daughter received a diagnosis, a diagnosis newly discovered that is only identifiable by its gene, because of dedicated and brilliant researchers at Baylor University, My own daughter is 1 in a million. Rare disease, however, is not so rare. 1 in 10 Americans have a rare disease that has a name but, on average, it takes 7 years to get a diagnosis. And while people are waiting for their next specialist appointment and then the next and then the next to get their diagnosis, they have been alone, without support. All that has changed: the Undiagnosed Diseases Network Foundation was begun by patients and families, for patients and families to provide both support during the diagnostic odyssey and resources to end the diagnostic odyssey.
Ten years ago I dreamed of support, dreamed that the UDNF would someday exist. Today it does and I am honored to be embedded in its community while welcoming those who are new or have been long-looking themselves. I ask for your donation to this 501(c)3 so that we can continue to offer support and resources to the 1 in 10 Americans that need this resource.
