Blog #9: The NIH...Finally!

To donate to our campaign, please click here: https://tgen.fundly.com/hall-of-famers/donate

<---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!

Blog #8: The National Institute of Health (NIH) and Death to Self

Well, we have made it to the Bethesda, Maryland and the NIH.  One obviously sets expectations for a place of this nature, after all it is the temple, mecca, st. peters, the holy grail (you get it) of complicated medicine.  This is not a place you get to come over night, but it is the first place you want to come when you realize you have a child with a rare disorder.  For all of the visions of splendor we probably had in mind, and at the risk of sounding arrogant, I must say that our initial reaction is that this is a well-used hospital (and that is not necessarily a bad thing.)  There are some perks different from the other stale, old hospitals we have found ourselves in.  For instance, you don't want to deal with the crowds and lines of admission in the morning, no problem...feel free to check in at any hour of the day or night.  We went over about 8pm last night (remember the girls were still 3 hours behind in time last night).  We filled out all of the lengthy paperwork and they showed us our room.  This is when reality set in.  I think Dave could see in my eyes that I thought the walls were closing in, and the first thing he said was, "I think it just set in what a challenge these next couple of weeks are going to be."  Needless to say, Emilia is no dummy.  You could tell her attitude began to change as soon as she saw the lobby...she knew why we were there :(.  You probably could have seen Dave's and my heart skip beats when we realized that you have to share a room with another sick child...wow, this is reality.  Anyhow, the other perk is that the nurses know that if you have made it this far, you do not likely need to be schooled, in fact they trust that you know what is best for your child.  Last night, the nurse asked us if we needed anything while we sat pretty well stunned in the room, and I couldn't help but ask if we really needed her to stay the night in the hospital.  After all, they also have a room for us at what they call "The Children's Inn"...their version of a Ronald McDonald House right next to the hospital.  Much to our surprise she said she would ask a doctor.  She came back 5 mins later and gave us a get out of jail free card for the night...wow was this liberating.  I don't know that we could have made it last night...everyone was so exhausted.

So here we are, all ready to head over to the hospital for the official start this morning, waiting for the girls to wake up.  I would be lying if I said it was a good night.  I should have warned you that by writing this blog these next couple of weeks in real-time you may get some of that raw emotion that I try to avoid :(.  In fact, I'm going to leave you with a song that really speaks to how I feel about staying in a hospital with a small child.  It is (the song and the experience) about a death to self...sorry to be so dramatic but this what I keep hearing over and over in my head this morning, death to self.  The song (in fact the whole cd is beautiful), click here and please listen:  http://www.youtube.com/watch?v=e5xEYgGr6ms

Blog #7: We Are Actually Running, I Promise!

To donate to our campaign, please click here: https://tgen.fundly.com/hall-of-famers/donate

A number of people have asked how the training for the race is going, so I thought I would start this blog with an update on our training.  I have to admit that I have little to complain about when it comes to my training path.  We live in the Lakes in Tempe and it really is quite beautiful to run around the lake this time of year.  People are out cruising around in their pontoon boats sipping wine…sunset hits the water, man do I love October in AZ.  I can officially say that I can comfortably run about 3 miles because Dave made me run the Maggie’s Place 5K last weekend J.

As for Dave, I think we all know that he could go out and run a half-marathon without any training.  I am having to convince him he can do this.  He often rides his bike to and from work (~15 miles each direction).  He could out-play anyone in a marathon tennis match, soccer game, etc, etc.  But running is not his favorite thing to do.  Plus, his reconstructed ankle is really giving him some problems.  Last weekend he commented that he just didn’t know if his ankle could handle the wear and tear of the half-marathon training.  I commented, as I stated above, “you have to be the only person I know that could just go out and run the half-marathon without any formal training.”  I suggested he swim more regularly and keep biking and then just run the race the day of.  I think he has bought off on this and I can assure you that our ice maker is thankfulJ.

In other updates, the boys and I have been reading CS Lewis, “The Magician’s Nephew” for a few weeks now and it cracks me up every night.  Lewis has an amazing skill of ending each chapter at a point that begs for you to read more.  The boys get so angry when I stop at the end of a chapter, saying “what happened?!  keep reading!”.  I have even caught Ethan reading ahead.  The book really is amazing..and as an adult, the imagery and desire to really think deeply through his message and whether his vision could be reality has really been quite fun and mentally exhausting.  The boys seem to be a bit grumpier than usual lately, especially Ethan.  They know that we are leaving for the hospital tour of duty on Monday for a few weeks and I do worry a bit that they feel just a little abandoned.  Like I said, especially Ethan.  When he started kindergarten a few years back, Isaac, Emilia and I left and spent three months at the Cleveland Clinic in Ohio, and I do think he felt like he was forgotten…poor little guy, he definitely is our sensitive one.

There are a couple of minor hiccups we have discovered this week with our pending trip to the National Institute of Health and the hospital at Columbia.  For one, we realized yesterday that Dave and Emilia are on one flight, and Gigi and I are on another.  We didn’t plan it that way.  In fact, we were able to actually tell the NIH which flight to purchase for Dave and Emilia, but sadly we mistakenly told them the wrong flightJ.  Fortunately we leave and arrive at very similar times, but unfortunately we arrive at totally different airports more than an hour apart from each other, whoops.  Here’s hoping the NIH shuttle service hasn’t been furloughed at both airports!  

The second hiccup’s impact is unknown at this point.  Did you know that it is essentially illegal to rent out your apartment in New York City for short-term leases (like the week we currently have booked with a New Yorker)?  Yeah, me neither.  There are some cases that it is legal, and it may be the case that the person we have leased from is following those rules, but we really don’t know.  From everything I read, it doesn’t seem like NY enforces the law unless someone is a large property offender, but the comments chastise you for making living in New York more expensive for natives because you are encouraging the use of these properties for short-term leases.  Here’s hoping our VRBO rental is a legal gig and is as cool as the pictures….

Today the TGen Center for Rare Childhood Diseases had their official Grand Opening celebration.  Emilia, Gigi and I attended (with the help of Kelly Carrizosa).  My highlight was getting to meet “Princess Isabelle” as Emilia refers to her.  She is the actual researcher that discovered Emilia’s genetic mutation.  She is still doing more research on her gene for potential treatment, absolutely amazing!  Can’t help but be hopeful… such a refreshing conversation.  Kelly took the pic at the top of this page at the grand opening…Emilia posing with the official ribbon cutting scissors, too funny.

This time next week we will be at the NIH.  Will likely do a few more updates throughout the week, shorter in length to keep you all abreast.  We appreciate your prayers for Emilia as she endures additional pricks and pokes over the next few weeks, for wisdom for her doctors, and for the boys as they stay behind (with Grandma Carole Crowell, thank you, thank you).

Blog #6: Batman, Batcaves, Batmobiles, Oh My!

To donate to our campaign, please click here: https://tgen.fundly.com/hall-of-famers/donate

I saved this blog for today so I could highlight our latest adventure.  Last night, the whole family and a group of our friends had the opportunity to visit a real-life replica of the old-school batman and robin batcave, complete with Bruce Wayne’s office, all the aged electronics that you could possibly want to play with, and the highlight, a collection of real batmobiles.  Everyone even got to ride and/or drive the batmobile and the original batman motorcycle with side-cart.  From what I hear, our boys just kept yelling from the side-cart, “Go faster, Go faster!”

I can only imagine that you are asking yourself, “Is this for real?”  Well, so were we when we were offered the opportunity.  The whole story is that a wonderful man named Charles Keller owns a company called Gotham City Motors.  He is incredibly generous and likes to go to whom he says knows best when it comes to donating your money.  He invites children that have endured some complicated setbacks and their families to attend a tour of his batman fantasy world for a night to remember, and donates money in their honor to a charity that has been particularly helpful to them throughout their journey.  In Emilia’s honor, he donated $1250 to TGen’s center and $1250 to an organization called ‘Feeding Matters’ (formally known as P.O.P.S.I.C.L.E). 

Needless to say, fun was had by all.  I forgot to mention the other highlights.  They picked us up in a limo (yes, picture what the boys’ faces looked like when they saw this) and as a parting gift he gave Emilia her very own key to the batmobile that she may return and drive whenever she would like, and the entire video collection of the original batman series...such a crack up!  What a cool place.  Dave and I were so excited to be able to pick an organization to give the money to but it was difficult to choose just one! 

We ultimately selected ‘Feeding Matters’ because we both recalled their executive director taking a couple of very panicked calls from us when Emilia was just 4-5 months old.  At that point, she had an NG tube that had been in place since she was 2 months old, she was throwing up at least 5 times each day, and was growing very, very little despite being given more than 125% of age-appropriate calories via the NG tube.  She ate little to nothing by mouth.  GI doctors wanted us to give her more calories and insert a G-tube; we wanted her to learn to eat and grow, and boy were we all clueless.  When I called the executive director (Chris) we were contemplating going to an inpatient feeding clinic out of state.  Having a child that refuses to eat is a frightening, complicated experience.  We knew that Emilia would be best-served in a team environment that could monitor her vitals and such while still aggressively helping her learn how to eat…seems like a fundamental human right to know how to eat!

Chris from Feeding Matters is a parent that had already experienced these difficulties.  I recall clearly two important points from our discussion.  The first was that it is probably a good idea to look out of state at this point (which reassured us we were doing the right thing), and second was the pain in her voice when I expressed our desire not to go to a G-tube.  She very humbly just said, “I know it is hard to comprehend at this point, but I can promise you that you will be so grateful and relieved to have that tube once you get there.”  Wow, she was quite correct!

For those of you that do not know, this is how we ended up at the Cleveland Clinic in Cleveland, Ohio for three-months.  There are numerous Cleveland stories that I hope to get to at some point, but I will stick with what we consider the highlight achievement from this trip for now.  One of the perks of being at a feeding clinic at the Cleveland Clinic was being able to see a number of world-class specialists.  Our favorite was a GI doctor that spent hours with us, was able to get any procedure he felt necessary scheduled within 24 hours, and gave us the BEST piece of advice.  After 5 or so minutes of calculations during one of our appointments, he turned to us and said, “Your child is not able to produce fat, I know that for certain.  Never give this child more than age-appropriate calories.   Even with age-appropriate calories, I can tell you that she will only gain 75% of age appropriate weight…so don’t expect anymore.”  This was an aha! moment.  This comment became part of her medical records and we took it to the bank, so to speak.  We had to actually stop seeing GI doctors in Phoenix and stick with a nurse practitioner from the GI office who very wisely allowed us to keep her calories consistent with the Cleveland GI’s recommendations.

There were a number of times we questioned whether this was correct, her weight gain was so small some months and we are all susceptible to “more, must be better” thoughts.  However, we fought hard (including with ourselves) to not over-feed her.  The confirmation of success of this strategy has come in two manners; one, the fact that you can look at nearly any time period over the last few years when Emilia was healthy, and she averaged exactly 75% of age-appropriate growth. Two, a few months back we spoke with a doctor from the National Institute of Health about her upcoming visit.  She asked us very nervously, “why does she have a tube?”  I explained her love/hate relationship with food, her non-existent appetite, etc…but assured her that we have never used it to give her more than age –appropriate calories.  She let out a very relieved gasp and said, “Good, because the only other patient similar to her that I have seen with a tube is a five-year old with a very fatty liver, the result of being over-fed for much of her life.”  This could have very easily been us.

Well, we are supposedly set for a week-long stay at the National Institute of Health in Bethesda, Maryland beginning Oct 21st.  Recognizing that this is a service of the federal government, we are obviously a bit concerned that it might be postponed or even canceled, all of that is unknown.  Hum…here’s hoping they figure something out.