Friday, April 2, 2010

Questions

Because there are so many unexplained medical complexities in my family, including the deaths of two of our children, we are hoping to find a diagnosis to better help us understand the best treatment plan to pursue.

In 2001, when our son, Dominic, had a sudden cardiac-pulmonary arrest, he was resuscitated and flown to the Children's hospital. It was considered then that his crisis event was caused by an underlying mitochondrial disease. Barth Syndrome was a primary thought, and extensive testing was done while also investigating other possibilities. Before Dominic died, infant botulism was detected in his stools and blood samples also showed botulism. Because all the other testing was inconclusive or not revealing of any other cause, including the investigation for Barth Syndrome, we were told Dominic's event was caused by Infant Botulism.

Prior to 2001, we had a variety of medical concerns with other children. In childhood, both my husband and I had some interesting medical conditions. Nothing seemingly of fatal consequence, or even severe, but certainly enough to make you curious about whether or not these were random things or if there was an underlying thread. Discussions with the geneticist reassured us that there was no reason to think any other children would be susceptible to such a fatal event.

After Dominic died, we had more children with the idea that there was no genetic reason for the very rare infant botulism. Then, six years later, our daughter, Bridget, also had the same crisis event, was flown to the Children's hospital and then died. It was then decided that our son had actually died with botulism, and not from botulism, and that Dominic and Bridget shared an underlying thread, yet to be diagnosed. A complete autopsy, including brain pathology was inconclusive, although the suggestion of Leigh's Syndrome was made. Specialists argue whether this was an appropriate suggestion, and we are still left without a diagnosis.

More than two years later, we are seeing more and more concerns with our living children that make the doctors suspect mitochondrial disease. Abbreviated Mito, more and more families are learning that the variety of medical complexities a member or members of their family face are actually attributed to an underlying mitochondrial disease.

It is a very frustrating place to be to not have a diagnosis, and we are currently waiting on testing, hoping this test will really give us a diagnosis. With a diagnosis, we hope for direction.

To any other families who either are wondering, or who have doctors suggesting, that "it might be mito," I hope this can be a place to explore the variety of questions that go through your mind and have resources to help answer some of the questions.

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