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The Legacy of My Brother-in-Law's Misdiagnosis and Rare Disease Battle

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In the world of rare, if you hear hoofbeats, you better think zebras and not horses.

Forty-three years ago a boy, my brother-in-law, Saul, was born to a family in Mexico. His symptoms were immediately noticed by his mother. His eyes would move from side to side and up and down, in a circular, pendulum-like motion.  The iris would leave the comfort of his perfect stare and the white sclera would completely cover his gaze. Mom protected her baby and searched for help from doctors. Her fears were dismissed as those belonging to a nervous first time mother. He was diagnosed with nystagmus.

Her instinct told her something was still amiss, yet doctors ignored her.  In time, she was proven right. The boy missed milestone after milestone until he was diagnosed with cerebral palsy. It took 40 years for another boy to be born from her second child, her daughter, to realize that her boy did not have cerebral palsy (CP), but something more life threatening. He had a rare leukodystrophy by the name of Pelizaeus-Merzbacher disease (PMD). Her boy had been misdiagnosed his entire life.

Being born with a special condition is strenuous on the child, the parents and family that loves him.  Sometimes this condition has a familiar name, and sometimes it doesn’t and the search can go on for a lifetime.  Other times it goes undetected for years and it suddenly shows up sending the family on a whirlwind of emotions.  There are times that the symptoms appear familiar and the medical community diagnoses wrong, and the real condition’s name stays hidden from the affected and the family until it’s too late.  The latter happened in our household.

One way to think about this is, who cares? The symptoms are similar, the medical treatments follow similar paths, and the world is more familiar with someone with cerebral palsy than someone with Pelizaeus Merzbacher disease. Plus is such a hard name to pronounce. However, the more responsible way to think about it is that being misdiagnosed is a disservice to the medical community, the patient, the family, and those battling the same disease.

Misdiagnosis of a patient by the medical community has far-reaching implications. In the case of hereditary conditions it may not stop with the immediate patient but can traverse family members and generations.  When a disease is misdiagnosed, the medical community misses an opportunity to treat outlier cases, those that force you to think outside the box. These are the cases that are gateways to new discoveries, the ones that push the boundaries of what is thought to be possible. These are the fundamental diseases that drive the advancement of human knowledge. Findings here could apply to the more populous “common diseases.”

The non-profit FindACure highlights cases where rare diseases have proven useful in learning about common diseases. Neuroacanthocytosis has helped in the understanding of Parkinson’s disease. Familial hypercholesterolemia drove the development of statins which are now used to treat high cholesterol. In similar fashion, PMD can provide an attractive human model to work with. PMD patients may reach a developmental plateau where their condition remains relatively stable, unlike individuals affected with other leukodystrophies. For the most part, PMD is not a fast-progressive, demyelinating disease. Human PMD trials or studies can provide researchers with a longer timeframe to study specific patients, potentially shortening the timeline towards a cure for myelin-affected diseases.

Misdiagnosis hurts patients, families, and those fighting the same battle. They all miss the opportunity to belong. Not to be lost alone. Being part of a group, however small, brings emotional relief and much needed advice.  The larger the community, the easier it is to provide researchers with the patient population to find a cure.  Key information living in that patient could potentially be the missing link for treating the condition, and due to misdiagnosis, it would be forever lost.  A misdiagnosis costs the patient and family access to newborn screening, treatments, the right to family planning, while at the same time, putting at risk their children and future generations.

After a genetic test, Saul was officially diagnosed with PMD in late January 2017. This development has helped doctors realize failures in treatments, and attempt to contain his seizures, bladder issues, and recurrent urine infections better informed.  Saul is a zebra and the medical community did not know it.  His doctors put together the puzzle of a disease they do not understand, while I patiently explain it. My 4-year-old son, Leonardo, and my 4-year-old nephew, Isaiah, are also a zebras and have their uncle’s stripes. Though I am not joyful that this happened, I am finding peace. I love my zebras. I love that they humbled my heart. I am proud that my zebras are changing this world one smile, one brave at a time. They keep me grounded and remind me to be zebra aware.

man and his son

Let this post stand as a testament that a misdiagnosed boy has lived, loved and been loved. A boy who dreamed to walk while enduring the most painful surgeries without complaint, and still finding time to smile at cute girls.  At his lowest points he called himself one who just sits and exists, the one God forgot. At his highest, he lifted all of our spirits with a song, laughed so hard he almost choked, blew the candles of his birthday cakes, cheered the San Diego Padres baseball team, went clubbing to Tijuana, and danced in his wheelchair with attitude. He was dauntless in the face of pain. Death knocked on his door numerous times and he still endured the barrage like the bravest of soldiers. His body was a map of rivers and valleys made from the scars of the battles he conquered. Through it all he softened the most unyielding of hearts with his desire to live. He did all of this with his mind in a body that does not respond.  He lived in an immutable and immovable diving bell. And as he sinks into the deepest of oceans, into the deepest of sleeps, he leaves a legacy behind.  He saved souls and mended hearts with every breath. He taught us to fight for a life that is always worth living.

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Originally published: February 21, 2017
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