I am the parent of a child with a rare, genetic and progressive disease (RGPD) and the parent of a healthy child in the shadow of this RGPD.
Red with born with Branchio-Oto-Renal Sydrome. A disease boasting 3 main symtptions: 1) hearing loss or deafness; 2) Branchio-Cranial cysts and abnormalities and 4) Kidney Disease requiring transplant. Being the rare bird in her rare flock, Scarlett has normal hearing thus far and would be better classified as BR Syndrome in that she had 3 sets of ducts on her head and neck that were surgically corrected and stage 3 CKD.
I continue to struggle to find the experience of parenting in this world documented anywhere: journal articles, text books, blogs, online communities, or the media … and so I often feel isolated in my lived experience. Despite the 8000 or so documented rare diseases in the world, despite rare diseases impacting more people than HIV and cancer combined, I feel totally alone in parenting her.
This blog is an attempt to give voice to the phenomenology of parenting children with RGPDs and never to be forgotten, their stoic siblings.
This is a safe place to vent, a place to air perspectives and most importantly, to do the self reflective work involved with this type of rare parenting, the blind and scary world it has become.