Rare Diseases: A Life in the Shadow of Doubt

Growing up, I knew that more than anything, I wanted to be a mom. Long before I had children, I worried about being a good mom. I wanted to give my children a perfect life, therefore, I needed to be a perfect mom. That did not change after I had kids. My children and their welfare came before all else, like most moms I know. When my children became ill with Ehlers-Danlos syndrome the focus of my life became about their care. I would say this about myself as a caregiver/mom: I became extremely knowledgable about Ehlers-Danlos syndrome. I never left my child’s side when they were hospitalized. If I felt my children were not being treated correctly by medical professionals, I would become aggressive. I would ask for tests I thought they needed that doctors didn’t find necessary. I often went to several different doctors because I was looking for a doctor who knew EDS or was willing to learn. I even started a non-profit to change the world for my children and other people living rare.

To me, this list represents the very best a mother can be for a child with a rare or rarely diagnosed disease. To the medical community this represents Munchausen by proxy or Factitious disorder.

At a recent medical conference I attended, Dr. Angela Anderson presented a case study of 72 infants in which the parents were all accused of medical abuse. A stunning 93% of these children were later diagnosed with EDS. The rest were all vitamin D deficient. None of the infants were abused by the parents. None.

In my work as an advocate, I have heard of far too many parents being accused of outright abuse or over-medicalization. Most, at some point, have had a medical professional imply over-medicalization, even when it is physically apparent the child is sick. Many have been investigated for some type of abuse and some have been jailed. The life of a rare mom, unimaginably difficult, made almost unbearable.