Blog #9: The NIH...Finally!

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<---Emilia at the NIH Children's Inn playgound :)

I really am sorry for the delay in writing up our experiences at the National Institute of Health.  I have no excuses other than this has honestly been two of the most exhausting weeks of my life.  We are still in New York now and sadly Dave had to just take Emilia back up to the hospital at Columbia to give some pre-procedure blood.  Gigi and Aunt Liz (hanging with us for a few days in New York) are napping...so I have no more excuses, time to write :).

I know I gave you some of my initial fears and concerns upon our arrival at the NIH, but we were able to glean some really good information from the trip.  First of all, diabetes or insulin resistance and liver disease is very common with kids that fit her profile so they did a thorough glucose test and metabolic work-up.  We were anxious to see her glucose test results because we think she often has signs of low blood sugar..where she just goes crazy if she is low on calories.  The test was a a bit of a nightmare for a little one.  Consisted of at least 7 different blood draws at different intervals.  Her IV nearly stopped giving blood about half way through so the blood would just barely trickle out of her veins...which made us feel even worse about all of it.  They had to re-do some of the blood draws the next day because it had taken so long to get the blood that it had clotted before the pathologists could even do their magic :(.  The good news is that she is not insulin resistant, but rather does have lower blood sugars, but fortunately still on the normal side of things.  The only blood work that even resulted in any type of concern was some factors that measure her liver and kidney health.  They are a bit out of the norm, but the kind of things we will check again in another six-month to reevaluate.  The doctors were actually quite pleasantly surprised.  So much so that they really would not label her particular condition as lipodystrophy because she just doesn't fit the metabolic mold, but rather they believe (as we have suspected) that she has an atypical progeria syndrome (she just has a genetic error that has not previously been associated with this condition.)

Have to admit to being a little surprised at the fact that we might actually have a definitive diagnosis.  After all, that's really been what we have been hunting for the last three years.  Part of me wanted to dismiss it and ask to speak to another set of professionals that specialize in atypical progeria.  However, a doctor that has been at the NIH since before I was born was there to confirm this conversation, and something tells me he knows what he is seeing, when he sees it.  Also, funny enough, when we asked the question of whether we should speak with someone at the NIH on the subject of atypical progeria, they quickly replied, "We can point you to someone, but it is really not necessary because you have already seen the best expert in the world on this diagnosis in Dallas.  There are only a few other doctors in Europe that might compare to him but he has seen twice as many patients like Emilia as they have."  Hum, wow...that's amazing and that comment got me really reflecting on the story of how we ended up in Dallas last year despite not really knowing what was going on.

Early on, a couple of doctors kept throwing around the term progeria.  At one point we even tested the specific gene that causes it and it came back normal.  It bothered me that after the test people kept using the term.  From everything I had read there is only one specific genetic mutation that results in classic progeria and we had already checked that.  I had never heard the phrase "atypical" or in fact not even thought of "early-aging syndrome".  As we all know, Google is only as good as the information you put in...and those terms just never came to mind.  There were all of these conditions that I was just over-looking in my research.  Finally, at an appointment with a whole team of doctors at PCH, a geneticist that we had not previously met looked me straight in the eyes and said I am certain your daughter has some sort of early-aging syndrome.  Aha, the term I needed!  I remember leaving that appointment wondering what I was suppose to feel.  They asked me before I left if I needed to speak with a family counselor, I didn't mean to but I actually laughed and wondered why they would ask that question...did I look like I needed some "help"?  That question did help me to really take her comment and her sincerity seriously.

I spent the next 24 hours researching "early-aging syndromes" and came upon this wealth of information that I had previously completely missed.  The hardest part of those next 24 hours was convincing Dave that this was the right path.  He was not able to make it to the appointment so didn't have quite the same insights/experiences.  He finally decided he needed a break from my sales pitch and decided he was going to take the boys to the park.  I decided to take a break from my research and turned the tv on..flipped through to essentially find nothing and left it on the Discovery Channel.  Ironically, it was showing the program 'Mystery Diagnosis'.  As you can probably guess, they were profiling a young boy from England that was diagnosed with atypical progeria by Dr. Garg in Dallas.  I immediately pulled up nearly all of the research papers written by Dr. Garg and I couldn't believe it...we needed to see this guy.  After Dave returned I was pretty well stocked with some new ammunition :).  At first he sort of dismissed the idea of the doctor because he was the type to go on television.  So what happened next couldn't have been more surprising.  The tv was still on and another Mystery Diagnosis program was playing.  All of a sudden he looked over my shoulder and said, "Isn't that Dr. Moran?" (A geneticist we had already seen in Cleveland that we knew was very well respected in her profession (aka not the type to go searching for patients on tv.)  It was her.  That was all that it took, he said if I thought this was the guy we needed to see, I should email him and see what he says.

I spent the next six hours, seriously, reading more of his research reports and carefully crafting a three-four sentence email that I thought was exactly enough information without over-whelming him and causing him to lose interest and attached a medical history summary and a few pics.  I guess I considered it a success because by the next morning he had already emailed me back and said he wanted to see her :).  We planned a visit a few months out during the boys' fall break 2012.  To make a long story short, within 5 minutes of being there he said he was as certain as he could be about things, she has a neonatal progeroid syndrome.  So here we are a year later.  The genetic sequencing essentially confirmed her pattern of symptoms and the likelihood that she could have this type of condition.  And a doctor from the NIH, one of the most esteemed medical institutions in the world says to us, "I think you can stop searching for what she has, I think we know and start just focusing on treatment for each symptom as it arises."  Wow, that is amazing if we really sit down and think about it....no longer worry about what her diagnosis is??  Maybe a little less anti-climactic because instead of just soaking it up and enjoying some relief, I couldn't help but ask myself if this is a better or worse diagnosis than we hoped for??  I think that if we are really honest with ourselves, we'd have to just say it is what it is.  By nature we are all atypical, so what does it matter.  Something tells me that this journey was by no means a series of coincidences....

As for the rest of the DC/NIH trip, lots more tests and good information that we will repeat each year.  As for entertainment, we were able to get out of the NIH compound (and it really is a secure compound) a couple of times.  As for excitement, we got to watch the Presidential motorcade pass near the White House in rush hour traffic.  Wow was that shocking and boy did I feel sorry for all of those cars that were trapped for a good 45 mins while they secured the area.  Did you know that the motorcade includes multiple swat team vans and an ambulance?  I had no idea it was SOOOO long.  We also saw Dr. Francis Collins (the head of the NIH).  Sadly, we missed being able to talk to him by about 10 steps.  Coming back from Bethesda one evening I looked ahead and saw him.  As many of you know I have read nearly all of his books so I knew exactly what he looked like.  We kept walking but he turned just before we got close enough to be obnoxious groupies.  I considered yelling out his name, but my manners got the best of me and let him walk in peace to his car.  His personal research over the years was in Progeria so it would have been nice to at least visit for a second but it just wasn't meant to be :(.  We also purchased Redskins and Baltimore footballs for the boys.  They made us promise we would bring them back a football from each stadium we would be near...and of course Ethan knew that was the redskins, baltimore, jets and giants.  Two more to go!