NIH: Day Three and Four

Day Three was a mixed bag. We finished up earlier than any of the previous days, around 3pm. Pacific had an audiology appointment, which confirmed for their records the normal hearing screen he had at Seattle Children’s a few weeks ago. The rest of the day was spent going over test results and getting education on XP. 

Pacific’s neurological tests all came back with good news. He is developing as he should, and his brain structure looks mostly normal. The lab tests we already received were normal, and we should get the results for those yet to come back soon. One of the most important things they are checking is his Vitamin D levels. Because he is protected from sunlight at all times, he requires daily supplementation to keep him healthy. (With us being from Seattle, Vitamin D supplementation is par for the course for most residents already, but it is particularly crucial for him.) Speaking of Seattle, the doctors said that they have previously recommended our city as the best place in the US to live for patients with XP due to the low UV index. 

We learned about the genes that are a part of the DNA repair process. There are 8 genes, each with a slightly different job, such as identifying damaged DNA, cutting away damaged DNA, and repairing sections that have been damaged. When one gene is defective, the entire process is disrupted, and the remaining damaged DNA can cause cancer. The doctors have found that Pacific most likely has xeroderma pigmentosum type D. It is the second most common in the US. It also is the source of most XP patients who have neurological issues. About 50% of those with Type D have some sort of neurological issues, from mild to severe, while half are completely unaffected by those problems. Some people have these issues present in infancy, while occasionally there won’t be issues until adulthood. The median age of neurological issues coming into play is between 7 and 12 years old. We’ll be getting Pacific enrolled in early intervention services soon so that any potential problems can be identified and addressed.  


In the playroom at The Children’s Inn

Wes and Arcadia took a shuttle bus with other Children’s Inn residents to the Renwick Gallery for the rest of the afternoon after we finished up our appointments. When they got back, the whole lot of us walked into Bethesda to a CVS and dinner. The Tastee Diner was an unexpectedly unique experience. We apparently stumbled into a local favorite through laziness and indecision, and had some of the best waitstaff I’ve experienced in years. The NIH campus is a giant maze, so on our way back we took the scenic route to say the least. Thankfully campus is gorgeous, and we even got to see a doe with her two yearlings.


Pacific with his medical team.

Day Four at the clinic was blissfully short. We came in early for rounds at 8am (5am Seattle time). Fifty or so medical students and doctors filed in in groups of four to look at Pacific, and pictures from his time in the hospital. We were instructed not to answer their questions, as after leaving our room, they conferenced to discuss what the diagnosis might be for a patient with his symptoms. Several definitely appeared to be on the right track by the questions they tried to get us to answer and the specific things they were examining. We ended our time at the clinic with hugs from the medical team we’ve been working with, and promises to keep in touch.


The whole family with Pacific’s medical team

We’ll be heading off in a shuttle for the airport shortly, and should be back in Seattle just before 10pm. I’m hoping to spend as much of the day as possible tomorrow doing absolutely nothing. I’m so grateful that we were able to come out here and both get answers for our family about Pacific’s condition, and to help the researchers find answers for all those with XP, both now and in the future. 

Posted on September 26, 2013, in Uncategorized and tagged , , . Bookmark the permalink. Leave a comment.

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