Blog #5: “How Do You Solve a Problem Like…Emilia”

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Yes, we have been watching The Sound of Music…love that movie!  Boy does this picture provide some good context.  Not everyone gets to eat pancakes in the fanciest dress they own, in front of the television.  Stop eating much real food for a couple of weeks and your parents will let you eat in whatever manner works for you!  We officially find ourselves in the midst (but nearly through, we think) of our first major stomach battle post gluten-free diet.  It seems like there might be two explanations; either we have contaminated her with gluten in a serious way, or I feel like she might be showing more and more signs of being diabetic.  Her bad nights of sleeping, stomach complaints, and refusal to eat is more and more being coupled with a random episode of screaming and flailing like her blood sugar has crashed once or twice per day.  The only fix is to literally restrain her and force some formula or pedialyte through her g-tube…and after five minutes she is back to being perfectly normal. 

Hum…what to do, I wish I knew.  One of our biggest struggles over the last couple of years has really been deciphering what type of doctors to seek out for help.  An obvious first choice for many parents with children whose health continues to be a mystery is the GI doctor.  But as I know a number of you have experienced, they seem to be a bit narrowly focused (in our case it was on growth).  The more I think about it, they really all are narrowly focused.  I get why…that is why we call them specialists.  They are supposed to specialize (how is that for profoundJ).  However I am sure that I am not the first to say this but that type of care just doesn’t really work for Emilia.  In fact, I think my next campaign will be getting a group of people together to write the following manual entitled,  “So You Suspect Your Child May Require Critical Care, Read this Manual So That You Don’t Feel Like Such an Idiot.”  Now how about that witty title J?? 

I am by no means an expert enough to write this manual, however here are some of my insights based on our experiences.  Never should a doctor (in this case a GI doctor) say the following when speaking to a parent of a three-month old child in a constant state of failing to thrive, throwing up at least five times per day, “I can’t be expected to solve all of your child’s problems.  You need to go see other doctors.”  Here is a better way to approach this topic Mr. Angry GI doctor, “Wow, I really want to help.  Here are a couple of other specialists I think you should see.  I have taken the liberty of calling a couple of them to make sure they get you in as quickly as possible.  I recognize I cannot expect you to be an expert because this appears to be your first rodeo.  Please call me in a week if you have not been able to be in touch with these doctors.”  Just a subtle change of tone please J.

Seriously, if you have been healthy all of your life, should you really be expected to know what an endocrinologist really does??  Do any of you even know what they do??  The only reason I recall figuring out that we needed to go see one was because Brandie Gray luckily called one day to check in.  We discussed some mutual frustration regarding GI docs and she just happened to mention, “Hey, I have a friend that had to take their child to see an endocrinologist recently maybe that would be helpful.”  Neither of us knew exactly what they did but one google search later and I realized she was right….so thankful for Brandie.  I could probably bore you with more cruel doctor commentary, okay just one moreJ.  In discussion with a cardiologist with regard to a very important problem that we have to find a treatment for, we mentioned that we happened to know the genetic abnormality and provided as much as we could about likely candidates for treatment.  His response, “You see, you just have to be experts on one condition, I have to be an expert on hundreds.”  Wow, did he really just say that, I asked myself.  The funny thing is, I totally agree with his comment and would probably even say it is fair, however some things you just don’t need to say out loud unless your goal is really to show off your naked male insecurities. Alright, angry Mary is going away.

There have been a handful of rays of sunshine among our doctor experiences...in fact one comes to mind that I would really say was a turning point for us.  I knew that Dr. Narayanan (from the TGen Center for Rare Childhood Diseases) was a different type of physician when I read his first record of our very first appointment with him.  As part of his medical summary, he took (at that time) over a hundred or so pages of our daughter’s medical records and specialist reports and concisely summarized each of them.  He took a convoluted, not exactly helpful pile of papers and listed what exactly was important from each specialist we had seen.  From that point forward, any time I needed to supply a new doctor with medical records, I just sent him or her a copy of Dr. Narayanan’s summary.  His methodology inspired me to always keep an updated five page medical history summary that included a page of diagnoses, a page of tests run and their results, and some important medical history laid out chronologically.  This has been life-altering as I am sure her total medical records are well over thousands of pages in length, yet could hardly highlight for any one individual a comprehensive picture. 

When Dr. Narayanan spoke with us about the possibility of having Emilia’s entire genome sequenced, it was the first time that we started to feel like someone was going to focus on the problem solving component of this puzzle.  We first received word of some anomalies in Emilia’s sequencing results about 7 months ago.  Dr. Narayanan emailed to ask if my husband and I could swing by his office (on a Sunday no less) to provide our blood samples.  He explained that there were a couple of anomalies that they wanted to compare against ours and drew our blood (which we found quite refreshing because neither of us could think of another time in our life when an actual doctor drew our bloodJ).  Having become an avid rookie-researcher myself, I read everything about the two genes he noted.   A few months later, he confirmed for us which gene they believed to be causing an array of issues throughout our daughter’s body.  TGen also provided a research report that I had not yet seen to support their analysis.  It was at this point that my research really took flight.  I read every study I could find that had anything to do with this gene and the protein that it is responsible for, some on humans, many on mice.  A few weeks after this point, Emilia required a heart catheterization to study what might be the source of her pulmonary hypertension.  I was able to not be surprised to hear about how Emilia responded to medicine during this procedure as much had been written on mice, pulmonary hypertension, and variations in the CAV-1 gene. 

All of this information inspired me to read a number of books on genetics and an array of research reports.  This enabled us to finally attend an appointment with another specialist fully-informed, with appropriate questions in-hand, and has honestly been a turning point for her care.  We feel more in charge.  We are strategizing about what treatments and/or studies to seek out.  Our conversations regarding her health are so much more hopeful and forward-thinking, rather than desperate analysis of every little symptom she is experiencing.  More importantly, we are starting to know what to expect, what to look for and we are beginning to investigate what methods we might use to avoid some common conditions associated with this error.  Now that my friends is quality care.  This is not meant to be a commercial for the Center, just my honest experience.

Blog #4: Relativity and Empathy

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We have a small putting green in our front yard.  Last night, I walked outside to go on my training run to the sight of Emilia swinging a kid-sized hockey stick at a golf ball.  She swung about as hard as a kid her age could and whacked the ball nicely across the green…what I would have said was a great shot.  She instantly started stomping up and down and whining.  Dave and I both went to comfort her and ask her what was wrong, to which she yelled, “I MISSED THE HOLE!”  We couldn’t help but laugh.  This was behavior we see often from her perfectionist brothers, but from Emilia, shouldn’t a nice shot just be enough?  As will hopefully be apparent soon, this entry is on relativity and with any luck, will provide you with a bit of comic relief. 

Yesterday I had to take the boys to eye appointments.  Isaac had gotten a letter from their school suggesting we get his eyes checked because he failed their screening.  Ethan was due for a follow-up appointment from a year ago because he always complains about his eyes and does have some minor problems that the doctor wants to monitor each year.  I could not have even imagined the outcome. 

Isaac has one eye that essentially is not working at all and one near perfect eye; the two so dramatically different that even the doctor was shocked.  Ethan’s eyes were about the same as a year ago.  Strangely, both of the boys were nearly hysterical as we tried to pick out some glasses for Isaac; Ethan, because he wants glasses sooo bad and Isaac, because he doesn’t want anything to do with them.  Both were crying at one point and I was trying to console each without making the other feel worse.  It was a touchy discussion that at one point included me whispering to Isaac all the reasons glasses weren’t that bad and then whispering to Ethan why it would be terrible to have glasses.

There inevitably came a point that I was just annoyed and wanted to say to both of them, “Are you kidding me, do you have any idea how minor this is compared to what your sister goes through?”  But luckily I was reminded of an article I read in the paper a few years back.  It was about a young girl that was dying and was on her way to the Ryan House with her family.  The father told a story about how the young girl’s brother fought with her about riding in the spot that she had wanted to ride in in the car.  Obviously the father was incredibly frustrated with his young son and probably wanted to smack him and say, “Don’t you get it, this may be her last ride in this car, etc.”  But instead, in the article he went on to explain just how wrong that would be.  If I remember correctly, he described how everybody’s problems, issues, burdens, etc are real to them and he didn’t feel like it would be fair to minimize the small frustration his healthy son was experiencing. 

Relativity is real J which makes it impossible to judge how limited some people’s capacity for pain, discomfort, sadness, injustice might be while others seem to have such a large capacity yet endure much suffering.  Healthy siblings of chronically ill children may feel their pains are as burdensome and life-altering as someone that the rest of us may look at and say, “Wow, nothing that I suffer from can compare?”  The point being, their pain, their sadness is theirs and feels very real to them, and we have to balance comfort with that feeling of wanting to give them a good swift kick in the rear that sometimes bubbles up in us.

In all fairness to the boys they have been incredibly empathetic at times.  I recall that about a year ago while Dave was out of town for business, Emilia’s G-tube began leaking profusely.  It had to be changed out immediately.  At the time, Emilia had been going through one of her throw-up/diarrhea week-long episodes so I knew she was very nearly dehydrated.  I could do it but I would need a trusted person to hold her arms back while I did it.  After running around in a slightly rattled mode for an hour, plus a panicked, unsuccessful trip to Walgreens with all of the kids very late at night to acquire some sterile water, I think the boys were innately aware that I was going to need their help.

Once I had everything set up, I explained to the boys what I needed to do…describing in detail how the G-tube would come out, I’d put a new one in, blow up the balloon in her stomach, etc, etc.  I would need her restrained for 2 mins, and for them it meant I would need them to hold her arms back over her head no matter how hard she tried to jerk them away.  Ethan, who is always a little more concerned about Emilia’s well-being said, “I can’t do it, I won’t do it” and walked away very nervously.  After about a minute, Isaac said “I can do it Mom, I can do it.  Let’s do it.”  Mind you, he was 5 years old at the time.  He was so determined, and even Ethan eventually came over to serve as a cheerleader while Isaac, with his most serious game-face held Emilia’s arms down while she screamed.  We did it.  I think all of us were a bit shaken afterwards and a bit teary-eyed.  They are good kids and I know I need to be more empathetic to their needs, no matter how silly they may seem sometimes.

Thanks for taking the time to read our blog!

Blog #3: Sleepless Nights

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Some people prefer to blog in the midst of an experience.  I assume so they can share the raw emotion one is truly enduring at that moment and, wow do I love to read these.  I however, am much more paranoid, self-conscious and prefer to write retrospectively where you have the benefit of looking through the eyes of wisdom, or better said, so you can Monday morning quarterback!  This last month we decided to experiment and see if Emilia really needed a medication we had been giving her since she was a month old…prevacid, for acid-reflux.  Lately my reading obsession has been centered on genetics, evolution, and food, and although I have always known the importance of the gut, I believe it to be true more than ever.  Part of me wanted to give her gut the chance to self-adjust and I worried that long-term medication would prevent that.  Well, I think the test was a failure.  Although she didn’t start throwing up again, she really started complaining about her stomach a lot, waking up a lot at night screaming in some sort of pain, and sadly nearly stopped eating by mouth.  Yes, I know you are calling me an idiot right now (speaking of Monday morning quarterbacks J), however I still think it is a valid test every few years.  Needless to say, I went and picked up the prescription today…whew, and we sure are hoping it kicks in tonight because we really don’t miss having to get up at all hours of the night.

Speaking of sleepless nights, as many of you know, Emilia rarely slept as an infant.  For the first 8 months of her life she would wake up at least 15-20 times per night, and had a similar pattern when napping.  It got so bad that Dave and I eventually just decided to rotate nights, he would sleep in the room with her one night and I the next.  And boy did I dread the nights I was on…Dave on the other hand (although he usually really likes his sleep) somehow was able to turn it into something of a competition or challenge, something he could win, and he actually enjoyed feeling like a survivor in the morning.

 I recall one time Dave was leaving for a business trip for a few days.  In preparation he let me have two whole nights of good sleep so I could build up some staminaJ.  Those nights he happened to be gone were some of the worst nights Emilia ever had.  At that point we had been sleeping with her in the downstairs bedroom because it was the coolest room and she would sweat so much at night that we just assumed it would only be worse if it wasn’t the coolest room in the house.  Going into the third night I can seriously say that I was bordering on insanity.  I felt so horrible and I really couldn’t think straight (the poor boys that I should have been taking care of J).  In the midst of that night, I woke up for probably the 10^th time, I hopped out of bed and looked around and the room was full of people.  I mean it, absolutely full of people.  Many of the faces I either didn’t recognize or just couldn’t remember in the morning, but there was one that I knew and can still see vividly.  It was Ruth Godfrey.

Many of you know Ruth…a very dear friend of my family, a best friend to my mother and father.  She had passed away about 5 months prior to this nightL.  As I looked at her closer I honestly realized that this room was full of people praying..and it was just like that “great cloud of witnesses” I had always heard about..wow, I know this is getting pretty deep (imagine what it would have been like had I written of it in the midst).  I have to admit, although I felt a little bit renewed, in the midst of it I was quite frightened (I could have used an angel saying, “Be not afraid”).  Here I was alone in this house with three kids and my mind couldn’t explain or comprehend what it was seeing…I hovered in the corner of my bed just praying Emilia wouldn’t wake up again until they were gone.  In hindsight, I obviously know that my mind could have been hallucinating, but it was a profound hallucination.  Part of the profoundness really surrounded my vision of Ruth.

Not too long before she passed, my mom and I went over to visit Ruth.  I knew it was likely to be the last time I would see her and I have to admit it was very sad, and a very hard thing to do (as I am certain many of you have felt before).  I was quite pregnant at the time and was aware at the potential seriousness of Emilia’s condition at that point.  My mom, on the other hand, was not.  We had decided not to talk much about it because we didn’t want people to worry, and after all she was improving and we just hoped it would go away (be quiet all you Monday morning quarterbacks, yes I know this probably wasn’t the most considerate of decisionsJ).  I recall hugging Ruth and thinking to myself how much I would love to ask for her prayers, someone so close to death, like they are already partly gone, suffering so much and thus having so much to offer on our behalf…how quickly those prayers could be delivered.  I decided not to, but she really hugged me so tightly, perhaps she knew.  It was a profound moment that I knew I would remember later.

Seeing her and the full room that night confirmed so many things for me.  In hindsight, after many more months of tests and realizing some issues Emilia has with both her heart and lungs, it is likely safe to consider the fact that we were able to keep her alive throughout all of that screaming and lack of sleep (obviously having a hard time breathing or who knows what) a sheer miracle and we sure are thankful for our “great cloud of witnesses” on earth and in heaven.  

I can assure that many, if not all of the families that go to the Center for Rare Childhood Diseases at TGen have had as many sleepless nights as we have…it just seems to be so common with kids that just don’t feel well, please keep them in your prayers.

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.

Blog #1: Join our Team and Help Children with Rare Diseases!

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If you have made it this far, you are aware that we are running the P.F. Chang’s Half-Marathon in January and we are hoping that you will either join our team as a runner or as a supporter!  I plan to update this blog once a week and over the next few months tell our story of searching for a diagnosis for our 2.5 year old daughter Emilia.

My name is Mary Crowell and my daughter Emilia has a very rare genetic condition.  It is so rare in fact that there really isn’t a current existing diagnosis that fits perfectly.   Through cutting-edge technology, TGen was able to sequence Emilia’s collection of genes (+3 billion lines of genetic code) and determine which genetic variation was likely causing all of her symptoms.  Her case was particularly complicated because she has an error that has not been inherited from myself or my husband, but rather is considered a random mutation.

I can hardly explain the excitement we felt when we were told that there may finally be an explanation for all of her various health issues, and even more importantly perhaps there could even be a treatment someday.  As I mentioned, this type of research is cutting-edge…and it is going to take a significant more amount of this type of research to build a treatment for Emilia’s condition because nothing exists to date, but we have to start somewhere.

As many of you know, we have traveled to a number of doctors across the country for a diagnosis and treatment.  The promise of having a facility here in Arizona that is truly able to solve these very complicated medical conditions and develop first of their kind type of solutions would truly be a miracle.  As I said on the main site, we truly are hopeful.

As for our team name “Hall of Famers:”, I will give a more detailed explanation as I retell our story over the next few months, but here is the jest.  Prior to being pregnant with Emilia, I started writing a book exploring how to best raise girls today.  I really wanted to understand how do you instill truth, beauty and goodness and encourage them to be successful without compromising any of those qualities? 

As I think the phrase goes, “Man plans, God laughs.”  From the instance we realized something might be wrong with Emilia when I was 5 months pregnant, I stopped writing because I was struggling with what success really meant.  Throughout these last couple of years my definition of success began to change dramatically.  In fact, there have been times that we have thought if we just kept her alive into her teens that would equal success.  But after reading literally hundreds of research studies that are looking into Emilia’s problematic gene (much of these studies performed on mice), I really have refined my definition of success for her.  Our boys love the song entitled, “Hall of Fame”.  Every time I hear it, I think of Emilia because I have really come to believe that she can be and do anything and I see no limit to her success…just as I do for my 3 healthy children.  We really wanted the song to be our team’s theme song! Here’s a link if you have not heard the song:  Hall of Fame on You Tube

We know that we have truly AMAZING friends and family…and we are hopeful that we will build an enormous support team!  We hope to have captains at a number of local companies where you all work...you know who you are and I am sure are anxiously awaiting my call J.  Please help us spread the word by sharing this site with your friends and family!  If you would like to volunteer to be one of our captains, please send me a note at me_crowell@yahoo.com.

There are a number of options for involvement including signing up as a team runner from our site (which means together we will raise $1,000 for each runner), you can sign up to donate but not run at all, or you could run by signing up through the official PF Chang’s Rock and Roll Marathon site but still submit a donation on our site.  Let me know if you have any questions.  Thank you for your time and consideration!!