Rare diseases afflict 30 million Americans. Nearly 1 in 10 of your friends, family and colleagues are living with a rare disease, and half are children. Thirty percent of children with a rare disease will not live to see their fifth birthday. This is a huge community. Collaboration of rare disease stakeholders is much needed to help improve the time from diagnosis to treatment for the 95 percent of rare disease patients that do not have a FDA-approved treatment or therapy.

A search for answers

What about the patients that have an undiagnosed rare disease?

Collaboration of rare disease stakeholders is much needed to help improve the time from diagnosis to treatment.

We have three children that suffer from an undiagnosed rare disease: an undiagnosed genetic dysfunction. I am undiagnosed as well. We have been to eight hospitals in five different states. We have seen over fifty specialists. We still do not have answers for the root cause of our children’s health concerns. In 2013, we nearly lost our oldest daughter, Ava.

We continue to search for answers as our children suffer every single day. Our journey has left the four walls of hospital rooms and entered the world of genetics. We have had our whole exome sequenced and analyzed six times. We have had our whole genome sequenced and analyzed three times. We still do not have an answer, a treatment or a cure.

A nightmare journey

In the United States alone, there is a huge population of patients with a genetic disease that is not diagnosed. It is a public health crisis and a huge burden on our health system. The average time to diagnosis is five to seven years for rare disease patients. Many undiagnosed rare disease patients live their entire lives without a diagnosis or with a misdiagnosis.

We need to eliminate the endless diagnostic maze, which causes physical, emotional and financial ruin for these families, by making next generation sequencing available immediately. Since 80 percent of rare diseases have identified genetic origins, it is imperative to raise awareness for the importance of genetics in the lives of undiagnosed rare disease patients. The importance of national and international data sharing is critical to improve diagnosis for these patients. We need to have collaboration and global cooperation.

An ongoing battle

We need to have insurance companies cover genetic sequencing in a clinical setting and have every single child sequenced in the United States. Sharing the data will allow for more information to be learned and for more of the undiagnosed rare disease patients to get answers. We can then and only then truly start on the next chapter of our journey — finding a treatment and a cure. As of now, being undiagnosed is our diagnosis, and we need to be recognized as a distinct population.