She Will Amaze You

This afternoon, just after 4pm, the phone rang. I was upstairs finding the last of Ellie's preemie clothes out for the quilt I am making out of her first onesies. I answered, and a cheery female voice was on the other end of the line.

"Hi Susanne, this is Dr. Anna Lehman, from Medical Genetics calling. I see here that you called a few days ago about a test we were doing, and I'm calling to let you know that we found an explanation for all of Ellie's problems. We have a positive diagnosis for Prader-Willi Syndrome"

I chatted with her for a few minutes, as she told me that she assumed I had probably already done some research on the syndrome, and that she wanted to reassure me that Ellie's life would be long and fullfilling, although there will be obstacles to overcome. We arranged for a meeting tomorrow morning.

As I hung up the phone, my insides crumbled. I made it downstairs, to Jason, and I started crying. I cried hard for probably five minutes. Once that was over, I felt an incredible, indescribable sensation of inner peace.

We have an answer. We have everything I was missing. My daughter, my sweet, beautiful, amazingly perfect girl has PWS, and it is nothing with cannot handle. I am a firm believer, as I have said before, in that we only get so much as we can handle. This is okay!

People aren't sure what to say to us, and I suppose it is an awkward thing. For us, we are not sad. Yes, I cried, but quite honestly, I've smiled more in the hours since we got that phone call, than I have in weeks. Be happy for us that we have a diagnosis. The not knowing was an absolute soul crusher. I am so happy we know what we are up against, and we're ready for battle.

I am blown away by the generosity of friends, family and strangers, who are rallying behind us to support our Ellie, and all the others affected by PWS.

Maybe not this year, and maybe not next, but eventually, and I'm positive in Ellie's lifetime they will find a CURE.

We have less than 2 weeks before the walk, and in less than FIVE hours we've almost met half our fundraising goal. You people are incredible. We have so much love, so much hope.

Thank you for your support.
http://onesmallstep.fpwr.org/dw/users/elliebelle/burnaby#