Anna Liberty

A girl who's one-in-a-million

The NIH

on March 11, 2012

After the frightening weekend with Anna, we had pictures of Anna’s sunburn sent out to a team of doctors and researchers at the National Institutes of Health located just outside of Washington, D.C.  After examining the photos and considering my sister’s history with XP, they thought it wise to have us bring Anna for testing to their campus in Bethesda, Maryland.

We packed our bags and flew to Maryland in August 2011.  We checked in at a wonderful facility called The Children’s Inn, which is located on the NIH campus. They house, feed, and entertain young patients and their families who are being examined at the NIH. We checked in to the enormous central building of the NIH campus on the night we arrived, and got up early the next morning to begin testing.

We were treated with care and respect by the great team of doctors involved with the XP study.  They took small biopsies from all of us, tested our blood, and examined our skin.  Anna was examined by a neurologist, an opthamologist, an audiologist, and more.  We were pleased to discover that Anna’s hearing, vision, and development were coming along just fine.

The doctors did suspect that Anna had XP, based on the burns and family history. However, the diagnosis could only be made after months of research on her DNA. These incredible doctors devised a way to test the DNA repair gene process to figure out what part of the repair process doesn’t work correctly in an XP patient.

We took advantage of being so close to our nation’s capitol and took trips to see the Smithsonian museums and many more sites. Anna’s favorite was the natural history museum – she loves anything with fur.
It was a great trip and we were grateful that Anna could be part of the study.

Several months after we returned home, we recieved confirmation that Anna does indeed have XP.  Type D, to be specific. We are grateful to know that Anna’s neurological development will most likely continue normally.  We are so blessed to have this diagnosis early so we can keep Anna safe from harmful UV rays.

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