Blog #2: Where Are We Now

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I have wrestled with what would be the most interesting approach to describe the last few years (mostly struggling with whether to start at the beginning or work backwards), and I think I have arrived at going back and forth.  In most recent news, we just finalized all of our travel plans for a couple important cross-country doctor appointments in October.  The National Institute of Health has invited Emilia to spend a week with a team of doctors in Bethesda, Maryland. She has qualified for one of their studies and we are really excited to pick the brains of some doctors that are familiar with the problems that Emilia is experiencing.  Fortunately, we were able to time this trip to precede a trip to Columbia in New York City, where we had already arranged to see a team of doctors that have written a research paper on a handful of people that have a genetic variation very similar to Emilia.  We plan to rent a car in DC and drive to New York over the weekend…and are very thankful for VRBO (Vacation Rental by Owner) because without it, let’s just say we might have been sleeping in the subway given what hotels charge in the area surrounding Columbia.  In NY, we are hoping to find a reasonable treatment for Emilia’s specific case of pulmonary hypertension.  If you aren’t sure of what that is, it is the measure of the blood flow between your heart and lungs.  Emilia’s is moderately high…I say moderately high with a chuckle because it is sort of a no-man’s land space.  If it were mild, we may not be overly concerned with it right now…if it were high, the doctors in AZ might actually be concerned about it and would help try to find a solution…but to be moderate means that you must worry about it but you don’t have much help unless you can really find someone that understands the pathology of her specific case…which is what we hope the Columbia team can provide!  This is great news because it honestly is our most worrisome issue right now because for those of you that don’t know, it is generally progressive (meaning it gets worse with time), and left untreated could be fatal in 5 years or so.  It is commonly easily treated (Viagra was initially created to treat this condition …just happen to have an interesting side-effect), however Emilia’s issues are caused by either an insufficient amount of a protein called caveolin (her error is on a gene called CAV-1) or it could be a corrupted form of the protein…we are also hoping Columbia could help tell us which it is.  The types of drugs most commonly used seem not to have any effect, and in fact caused other problems.

As for my retrospective commentary, the other night I was reminded of when we had to have the amniocentesis performed when I was pregnant with Emilia after they realized she was having some issues.  If you have not had one of these…it is creepy!  They insert an incredibly large needle into your stomach and although it is quick there is an increased risk of a miscarriage for some time afterwards.  I can recall just sitting perfectly still without saying a word for a few hours after the procedure just counting time because I thought it might lesson my chance of something going wrong.  This event is connected in mind to another very stressful event.  When Emilia was about 2 months old we ended up in the hospital for a couple of weeks.  One of the first things they wanted to do was an MRI.  At that time she weighed only 6 or 7 lbs.  The anesthesiologist spent a significant amount of time with us trying to make us comfortable putting this tiny child under for the procedure…we must have looked horrible, because within minutes of him administering the medication he turned to us and said, “You know what, if this were my kid, I would want to see if she could get through the procedure without the anesthesia first and I’m okay if you want to try that.  If it doesn’t work, we’ll reschedule for another day.”  We couldn’t believe it and said enthusiastically, “Is that really an option?”  He said she just had to lie perfectly still for 30 minutes.  It is unlikely she can do it but if you want to try it, we can.”  Mind you, she was awake, alert and we couldn’t have imagined that she could really sit still that long; after all she had never even slept longer than 30 consecutive minutes.  These two events are connected in my memory because they were both times that I truly understood the need for contemplative, repetitious prayer.  Honestly, there really weren’t any words that could come to my head other than the Hail Mary, just over and over and over again it just kept coming…nothing else would register.  I must have said about 500 Hail Mary’s during these procedures, and to my surprise, the first thing Dave said to me when we left the room was, “All I could say was the Hail Mary…It just seemed to be what needed to be said.”  I have heard a number of stories of people that have been on airplanes when they start to have a mechanical issue or failure, even known someone personally that experienced it and they say that the most common thing you see when you look around is people doing the sign of the cross over and over again, irrespective of what faith they are…just something our body does in the times of crisis…a call to a comfortable, simple motion, simple prayer.  It really is quite a beautiful thing.  She made it through that MRI without any anesthesia and the anesthesiologist couldn’t believe it.