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.