Living With an Undiagnosed Rare Disease
Advocacy I am the mother of three children who have an undiagnosed rare disease. I am also undiagnosed. Our family continues to endure a diagnostic odyssey times four.
In 2012, when I first heard our neurologist say the word “undiagnosed,” I was overwhelmed by confusion. She explained that they may never find the root cause of our children’s diseases, but offered to help treat the symptoms going forward. I went home that night from the hospital and cried myself to sleep. How does a doctor not continue to find a diagnosis, a treatment and a cure?
Facing the unknown
This was the first step in a long diagnostic odyssey that continues to this day. Our family has had our whole exome sequenced and analyzed eight times. We have had our whole genome sequenced and analyzed five times. We still live in the world of the unknown.
We begin every single day at the starting line of another marathon. There is not one day that I do not spend some moment in time looking for the next steps to help my children and to help myself. We are still suffering from an undiagnosed rare disease with no hope for a treatment or a cure.
In 2016, the Rare and Undiagnosed Network started the awareness campaign for an annual Undiagnosed Rare Disease Day on April 29. The main objective of this day is to raise awareness for the undiagnosed rare-disease community among the general public about the emotional, physical and financial impact on the lives of patients and their families.
The campaign also seeks to raise awareness among policymakers, public authorities, industry representatives, researchers, healthcare professionals and anyone who has a genuine interest in undiagnosed rare diseases and the world of genetics. Since 80 percent of rare and undiagnosed diseases have identified genetic origins, it is imperative to emphasize the importance of genetics in the journey of patients with undiagnosed rare diseases.
Help us raise awareness for the undiagnosed rare-disease community by supporting Undiagnosed Rare Disease Day on April 29, 2019.