Pilot Natural History Study to Chart the Course of Disease

As part of on-going FSASD Consortium efforts a pilot natural history study has been undertaken bycolleagues at theNational Human Genome Research Institute(NHGRI). The Roafamily from Norwayrecently visited NIH for a week of tests and measurements on their daughter, Anea. This blogprovidestheir personal account of their visit.

Hi! We are the Roa Family from Norway! Finally, the time we have been eagerly awaiting for almost 2.5years due toCOVID has arrived. We're participating in the research pilot study for Salla disease (FSASD-Free Sialic Acid Storage Disease) at the NIH, and the fact that we're doing this in one of the world'slargest hospitals dedicated to clinical research is reallycool! It's so wonderful to be a part of this and toshare what we know.

Anea was truly a STAR throughout the entire stay. Despite many doctor's appointments and the fact thateverything was conducted in English, she maintained her spirits and patience ather best. She findsmeeting new people very exciting and, even with a language barrier, she tried teaching the Norwegianwords for colors while playing. We also got a short tour of the lab where they work on FSASD.

When we arrived, they had already started working on the blood we had given. It was incredibly exciting,and they are doing an amazing job! We were very proud to show everything our little warrior can do, andwe hope that this can help make a difference and give hope, because without hope, wehave nothing.

We had some understanding of how significant this is before we left, but after being here and seeing howmany people are involved and what they do, we feel enormous gratitude for being able to contributeinformation about something so important!

We are excited to see the results of the pilot study of the children they have seen and where this magicaladventure is going. It's no wonder this place is called the "House of Hope"!