No Boundaries

I’m on London time after a glorious week’s visit there, visiting old friends and nostalgic settings. I’m often awake at 4 am, thinking about the things I should be doing, but also about the things I really want to do. One thing that I’ve wanted to do was write a blog about our lives with my son’s extremely rare genetic condition.

Ever since Ben was diagnosed with Schwartz-Jampel syndrome (SJS) in 2003, I’ve shared my thoughts and feelings about access to health care, doctor-patient communication, shared decision-making and the ups and downs of family life with anyone who would listen, and often with those who didn’t want to listen.  Scholarly and commentary articles have been published in peer-review journals, essays  have been published in disability awareness magazines and local newspapers, and a hospital-linked blog has been maintained for over five years.

But I’ve come to a new page in my parenting, and it is in this blog that I’ll express these new thoughts. I’ll talk about traveling with Ben’s wheelchair, walker and medical supplies; I’ll describe what it’s like to listen to patients’ stories about their feelings of stigma when I know all too well what they are experiencing, yet I need to keep an objective distance; and I’ll mention the random acts of kindness that keep me and our family going on a daily basis.

I hope that this blog will be helpful for the one or two families who have children with SJS who contact me every year to find out what I know about the condition–because, really, let’s face it, when 86 people in the world have this condition, not much is known. I also hope that this blog will reach the wider community of those with mobility and medical challenges who know that every outing has to be researched and examined in advance–spontaneity is not often the rule. And I hope that those without knowledge of these challenges will appreciate how I and others have learned so much from Ben and how he has braved every situation he has faced with more courage than hundreds of us could muster in a lifetime.