Tag Archives: diagnosis

Glenda

3 Things I Want To Tell the Mom Receiving A Rare Diagnosis

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Today may feel like the hardest day of your life. Whether or not motherhood is something you planned and dreamed about, you likely fantasized about the life of the person you carried inside of you. Would she look like me and have red hair, enjoy gymnastics and cheerleading, have a great sense of humor, and/or become the first female president?

Whatever it is you imagined for your child, it probably was not a rare disease. Disease, struggle, and/or early death is not something anyone wants for their child.

1. It is OK to mourn the health and life you wanted for your child.

Doing so does not mean you love your child any less or make the statement that you don’t want a child with a disability. Of course you want your child to live a long, healthy life with as little struggle as possible. It is natural to grieve the life you wanted for your child and to do so unapologetically.

2. As this grief lessens, you will imagine a new life with your child.

My daughter is constantly inspiring me with her determination, strength and perseverance. I cannot even begin to imagine what is in store for her because she is my teacher. Before this diagnosis, I naturally viewed everything from my worldview; now I have the opportunity to see it from her perspective. She does not seem to feel sad or angry or disappointed about her disease. This is her life and the only life she knows. Allow your child to show you that a well-lived life isn’t always the way you imagined it.

3. Don’t let anyone define your child.

People will put your child in a box because that’s how information gets organized. Encourage others to think outside that box. It’s easy to put a label on somebody and file them away with other “stuff” we don’t understand. Your child deserves better, and if you don’t advocate for them then nobody will do it for you. Just as your child taught you your new worldview, share your new perspective with others.

David and Glenda, Uncategorized

NUBPL Gene – Mito Complex 1 (Diagnosed)

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February 2015 – Katherine Belle was DIAGNOSED through Whole Exome Sequencing: Mitochondrial Complex 1 – NUBPL Gene.

We want to introduce you to the Spooner Family and their daughters Cali and Ryann, both of whom have mutated NUBPL genes like Katherine. We were undiagnosed for only two years…their oldest daughter was undiagnosed for thirteen years.

Although not identical, I can tell you that after seeing this video I immediately saw similarities between our daughters. After being misdiagnosed for so long with something that didn’t feel right in our hearts, it is so comforting to know and accept the correct diagnosis.

Please watch this video when you get some time. It’s lengthy, but very important and inspiring: The Life We Live

We are all interested in finding others with the same diagnosis.  They may contact me at gcmccoy1@aol.com.

Glenda

Around We Go

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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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