Visit to D.C: Part I

First let me get this off of my chest. As someone from Washington State, I hate that people refer to Washington D.C. just as "Washington." It's ridiculous, especially in light of the fact that Washington State was not named "Columbia" because there was concern that it would be confused with the District of Columbia. Washington State has a population of about 6.5 million. The District of Columbia has about a population of about 600k, and yet WE have to say "state" after Washington to avoid confusing people who naturally assume Washington refers to our nation's mismanaged capitol. [End Tangent] Sorry, I got a little carried away there. Let me rewind a bit and tell you what brought us to D.C. and a little bit about our trip so far. As most of you know, Eli was born with a series of congenital defects ranging from life-threatening to benign. The most serious defect that he was born with is called a Tracheoesophegeal Fistula or TEF for short. In layman's terms, his food pipe (Esophagus) did not connect to his stomach. Rather it dead-ended into a pouch. The bottom part of his food pipe, instead of ending in a similar poach as the top part, actually connected to his wind pipe (Trachea), forming a sort of "T" shape. Besides making eating impossible, the TEF impaired Eli's breathing significantly. Every breath he took filled his GI tract up with air, making him become bloated and putting pressure on his lungs. When Eli was one day old he had a five-hour plus surgery to correct the TEF (i.e., to disconnect his esophagus from his trachea and to reconnect the two ends of his esophagus). A doctor recently said the surgery was just as major as other well-known major surgeries such as open-heart surgery. To get to his esophagus and trachea the surgeon had to go in through Eli's side and push aside Eli's lung. Imagine a one day old infant, already having serious troubles breathing, having some literally (i.e., directly) push/collapse one of his lungs. The surgeon would push aside the lung for about five minutes at a time, letting it reinflate periodically to keep Eli alive. They constantly assessed the amount of oxygen in his blood, and anytime it got dangerously low, they had to allow his second lung to re-inflate. Anyways, I kind of got on a tangent to what I really wanted to talk about. The rest of Eli's story is well-recorded in this blog and as you know, is a dramatic up and down roller-coaster. TEFs are pretty rare, probably about 1 in every 5,000 births. Eli is also an identical twin - a pretty rare condition in itself, happening about 1 in every 350 births. Eli are a rare type of identical twin (Dichorionic-Diamniotic), which compose about 25% of identical twins, making their type of twin occuring about 1 in 1,400 births. TEF's do have a higher rate in twins than in non-twins, but ignoring that fact, you can calculate that Eli is 1 in 7 million. TEF's are a congental defect that often occur with other defects in what is known as VACTERL association. What causes VACTERL association is unknown and the condition is largely not understood. VACTERL is an acronym that stands for the following: V - Vertebral anomalies A - Anal atresia C - Cardiovascular anomalies T - Tracheoesophageal fistula E - Esophageal atresia R - Renal (Kidney) and/or radial anomalies L - Limb anomalies (in front of or above the central axis of the limb). Eli qualifies for VACTERL association for a number of reasons. First, he had the TEF (the "T") He also had Esophageal atresia which just means that his esophagus did not connect (The "E") He was born with a benign cyst on his spine (A vertebral anomaly or "V" above) He had severe kidney complications most likely influenced by abnormal kidneys (The "R"above) He did not have any "A" "C" or "L" abnormalities that we know of. The NIH or National Institutes of Health is part of the Department of Health and Human Services, and is the federal agency responsible for medical research. As it is part of the federal government, it is headquartered just outside of Washington D.C. in Bethesda, Maryland and has a huge campus (It has its own shuttle service to get to different parts; it even has its own metro subway stop - i.e., "Medical Center"). A team of researchers at the NIH are currently conducting research on the causes of VACTERL association. They are gathering medical records from many individuals with VACTERL association and are also inviting certain select individuals to the campus gather additional data. For example, one family was invited because there were multiple individuals in the family with the association. Eli was invited because he is unique, being an identical twin. We are now in our fifth day here (we go home tomorrow) and we have all had our blood drawn, Eli has had an ultrasound, x-rays, and pictures taken, and Noah received and ultrasound and echocardiogram (to test a most likely benign heart murmur). * Eli sporting a lead loin cloth The craziest thing though, and what the team of researchers are REALLY excited about is that they will be able to compare Eli's DNA with Noah's DNA and will hopefully find some small differences that might be responsible for Eli having VACTERL association and Noah not having it. They are doing what is called exome analysis. They will compare every single piece of DNA between Noah and Eli that is involved directly in making proteins. The doctor noted that they will actually have OVER one million data points to compare. He said that if their whole team where to do nothing else, it would take them at least six months to analyze the data. They even have to use super computers to handle all of the calculations involved. Suffice it to say that it is an immense undertaking. They are really excited about this "specially unique opportunity" as they call it. It's kind of cool it think a team of MD/PhDs will be investing so much time into analyzing our sons DNA. *Trying to take x-rays of his hands - not easy for someone so squirmy Well, this post is long enough, so I will have to add an additional part or two about our actual stay and the adventures we've had using the subway system to travel to D.C. and see the capitol.