Around We Go

On June 19, 2014, we were told a second time by a doctor that, in his opinion, he thinks there’s a 90% chance Katherine has Infantile Neuroaxonal Dystrophy (INAD). Once again, this opinion is based solely on her brain MRI.  However, (at this point) she shows no clinical signs (i.e. involuntary eye and muscle movement, muscle rigidity, etc.) of INAD.  We are still awaiting some results from her spinal tap. All other tests, including those that typically show abnormalities in INAD patients, have been normal except for her brain MRI.

Feeling confused by the certainty of the diagnosis based on the MRI alone, we decided to seek a third opinion, this time from an INAD expert in Oregon.  We sent her all of Katherine’s test results, MRI reports and images, medical history, etc. After a thorough review, she informed us that she thinks it is unlikely that Katherine has INAD.

Again, an expert in the family of diseases that include INAD says she thinks it is unlikely that Katherine has INAD.  Unlikely.  Unlikely is a far cry from a 90% likelihood.

Without getting too technical, Dr. Hayflick says the progression shown on Katherine’s last MRI is not the same as she’s seen in other INAD patients, and one abnormality is not one she has ever seen in an INAD patient. In addition (as we knew), the genetic test results for INAD were normal.  She also believes she should be experiencing clinical aspects of this disorder other than those directly associated with the cerebellar atrophy, which she is not.

So, where do this leave us?  Is this a cause for celebration? Well, we do not know what this means since she did not give us any alternatives.  Instead, she agreed that the next step should be the Whole Exome Sequencing for possible answers.  We are in the process of getting the test cleared through our insurance company (fingers crossed).  This test costs around $13,000.  Insurance may or may not cover some or all of the costs.  Test results take four months.

It is likely that this test is the end of the road for us as far as conventional medicine is concerned.  Few of the things Exome Sequencing might reveal have FDA-approved treatments – but “few” is better than “none.” Four months from now we may be left with this answer: we just don’t know right now.  Or, this test could uncover something other tests have missed – perhaps a disorder that is treatable. Perhaps it will reveal an atypical INAD, leaving us where we were last August and again last month.

For now, we must be patient, enjoy our precious moments with Katherine, and have faith in the things we do not understand. This journey continues to confirm my belief that Katherine truly is rare –  a living, breathing miracle who is spreading her joy around the world – and none of her doctors have ever seen another person with her condition.  We all seek answers under these circumstances, but for now they can only estimate with percentages as to what is happening in her body because they are not certain.   And, as uncomfortable as it may feel at times, uncertainty isn’t necessarily a bad thing.

After all, hope shines brightest in the darkest moments, right?

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4 thoughts on “Around We Go”

  1. Oh My! I have no idea how you all live on this rollercoaster! I continue to pray for her and for you all. She is one brave little girl and has terrific parents – that is a definite! Hugs to you, KB and Dave.

  2. We, too, have an undiagnosed baby girl with cerebellar hypoplasia and are going through genetic testing. Waiting for one gene sequencing test to come back and if there are no answers there, we will do whole exome. Praying for your family as you search for answers for your precious girl!

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