Yesterday I mentioned that sometimes I start to think that, when it comes to fragile x, “I’m all that, a bag of chips and a slice of pumpkin cheesecake.” Something happened at the conference on Saturday that left me feeling completely humbled though.
Andy Selinger1 mentioned that there was a newly diagnosed family in attendance. We were tied up at the LINKS table chatting with the other LINKS leaders and anyone who stopped by2. We saw the couple in the distance but didn’t get much closer than that until the lunch break when Tammy Selinger3 invited them to join us to talk.
The three of us sat with this husband and wife for over an hour, we were able to get Dr. Picker from Children’s Hospital to join us as well. Their son will be two this week and their story is similar to many of ours. They suspected something was wrong for months but they were turned away by doctors, they fought with doctors who didn’t know anything about fragile x for testing until finally they were able to get the referral. It’s all very familiar, isn’t it? Haven’t nearly all of us traveled this road?
What really left me awestruck about this family was this…their son was diagnosed on Thursday. Less than 48 hours later they were at a conference, learning and talking. I’m not sure I made a coherent sentence for weeks after the diagnosis I was so destroyed. I know for sure that the first 48 hours were spent crying uncontrollably. They weren’t in denial, which might be your first thought, and they were emotional but they had an inner strength that truly was amazing to see. I feel so lucky to have met them and truly inspired by they way they have faced this life changing diagnosis.
See, it’s not always the presenters who make the biggest impact when you go to a conference!