What if Healthcare?

In 2012, Susannah Fox started capturing people’s healthcare dreams by tweeting.  Susannah just posted a wonderful analogy story on her blog and compiled the tweets via Storify.

Well, for those who know me it’s nearly impossible for me to put into 1 single tweet my “What if Healthcare?” story for Alexis.  140 characters is just not a lot of characters.  Here’s my tweet, it might end up being much greater than Twitter limits.

What if Healthcare in Alexis’ life?

To start, let me say by great strides in medical treatment, thankfully Alexis is alive today. Many of her clinical diagnosis are a result of careful observation, in depth team work between us and her doctors and pure perseverance.        But, my dream for Alexis would be

comprehensive diagnosis and connection.

Comprehensive Diagnosis.

What do I mean by this?  Alexis is genetically undiagnosed.  We have been on a journey, a hunt, a quest to find a diagnosis. The testing began even before Alexis and Kaitlyn were born.

  • In 2005, I had amniocentesis with Alexis and Kaitlyn at New England Medical Center.  No abnormalities.
  • In 2006, Alexis had blood and skin biopsy done while in the NICU at New England Medical Center.  No abnormalities. Specifically tested for CHARGE Syndrome, 22q deletion and Smith-Lemli-Opitz.
  • In 2008, Alexis’ blood was tested for Cornelia de Lange Syndrome by Children’s Hospital of Philadelphia.  Negative.  Alexis was tested for other syndromes, all negative.
  • In 2010, Boston Children’s Hospital retested with the latest Array Test.  They did find a Type IX Glycogen Storage Disease in her genes.  This is a minor finding but does help us maintain her glucose and her energy levels with nutrition during the day.
  • In 2012, Mass General Hospital Department of Pediatrics reviewed Alexis’ genetic work-up in relation to CHARGE Syndrome similarities.
  • Ongoing – Duke University Professor of Medical Genetics is studying Alexis’ exome to identify if there is anything to diagnosis.

What does a comprehensive diagnosis give us?  It gives us an answer to the constant questions from the medical community (“What’s her diagnosis?”)  It gives us the confirmation that the treatment options we have taken are the best suited for her syndrome.  But most importantly, it gives us:


It gives us connection to other patients.  It gives us a family of people experiencing the same symptoms and who have already explored different treatment options.  In 2009, we finally joined the CHARGE Syndrome Foundation.  I say finally because we had always excluded ourselves because we had been diagnosed in 2006 as “not CHARGE Syndrome”.  So what could we learn from adopting this syndrome?

We have learned a lot – what treatment options are possible, what surgeries to avoid, what surgeons to avoid, what other parents do in our situations and more!  But most importantly as a parent, we are now connected to families throughout the world who finally get us.  We are synchronized to a network via email and Facebook of compassionate and welcoming families.  We are connected to a wealth of information because we are the e-patients – empowered, engaged, equipped and enabled.

And it’s because of ePatient Dave that we have embarked on the study at Duke University.  By way of e-Patient Dave’s post of this parallel journey which led to a family with a similar quest.  We are the internet miners trying to find answers to Alexis’ medical mysteries.

We still hunt for our comprehensive diagnosis to find the connections with families that will show us what the journey in 30 or 40 years.  We have often said that Alexis is ‘ahead of her times,’ but we are hopeful that our understanding of genetics will catch up during her lifetime.

In summary, What if Healthcare for Alexis?  It would be that this journey wasn’t so hard.  We have had six leading hospitals involved in this quest – each time having to provide all of Alexis’ records and history.  At many junctions, they have defined Alexis by what testing she ‘fails’ – what the testing showed was negative.  But they didn’t realize the power parents can have by being connected to others – and no one in the medical world suggested we join the CHARGE Syndrome Foundation. It was a great school psychologist who knew we could learn more from parents and being connected.

What if Healthcare for Alexis?  Comprehensive Diagnosis and Connection.


Posted on 02/10, in What if Healthcare and tagged , , , . Bookmark the permalink. Leave a comment.

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