Fossen family takes part in pilot natural history study

As part of on-going FSASD Consortium efforts a pilot natural history study has been undertaken by colleagues at the National Human Genome Research Institute (NHGRI).  The Fossen family recently visited NIH for a week of tests and measurements on their daughter, Aurora.  This blog provides their personal account of their visit.

In October we took a trip from Norway to Washington, D.C to participate in a clinical study at National Institutes of Health (NIH). Our daughter Aurora (three years old) was in good spirits throughout the long flight. Upon arriving at the NIH, we had to go into a two-day quarantine at the Children's Inn, a hotel for families at NIH. However, we were able to move freely outside on the beautiful NIH campus during our quarantine.  

We spent five days at NIH undergoing a variety of medical evaluations, including an MRI of the brain, over 40 blood tests, skin biopsies, evaluations of physical and mental abilities, and more. The doctors and nurses we encountered were professional and friendly, and I was impressed with the quality of work being done and the knowledge of the researchers about Aurora's condition.  

The doctors were optimistic about the possibility of finding a treatment for Aurora's condition, and even if a treatment is not found, the trip was worth it as the research may help children in the future.  

After a week at the hospital, we had some time to explore downtown Washington, D.C., visiting landmarks such as the White House, Capitol Hill, and the Lincoln Memorial.  

Finally, we returned home after a long and meaningful journey. I hope we will have the opportunity to return to NIH again.