The RESULTS

The Results

“These results indicate that the underlying cause of the patient’s clinical symptoms has not been discovered.”

After wondering for 162 days if each phone call was “the one”…the day finally came and it was today at 10:46am PST.

I had just arrived at one of our favorite places, Discovery Village, to let Jessica and Matty play while I enjoyed some peaceful cuddle time with Ellie. We had just settled in when I heard my phone ring.  The caller ID said, “Dr. Lawson Yuen.” Quickly as I went to answer, I tried to think if it could be anything other than the results…I couldn’t think of anything.  I heard her voice on the other line and knew this was the call EVERYONE had been waiting for. 

 I loved that she called me herself. She has been so amazing this whole process and I was really hoping to get the chance to experience the results with her, as well. Her sweet voice told me what she was going to say, “I received the report from Ambry and the test was negative.”  I wasn’t surprised except by my reaction. I thought I would break down in tears hearing those words. The only thing I thought of to make sense of my reaction was comparing this to a death. First, a state of shock , the calm before the storm, then the paralyzing sadness. I can feel the tears welling up in my eyes as I sink deeper into the knowledge of a negative result. Listening to my little baby in the other room pacify her sweet little self to sleep while a part of me feels that I have failed her.  In a way, it is a death…a death of the hope and dream that this test would provide answers that I have so desperately been searching for. 

I remained calm and starting thinking about what was next.  Dr. Lawson Yuen asked me what I wanted to do but that I didn’t have to decide right now.  The report did indicate a gene to take a look at. Probably nothing but they were unable to rule it out 100% of being the cause for her clinical symptoms. Dr. Lawson Yuen said she was going to learn as much as possible about this gene to get a feel if it required further investigation. It is times like this I am SO grateful to have such a brilliant mind leading this journey. 

Along with the devastating sadness this brings, comes an overwhelming feeling of gratitude. Gratitude towards everyone who has been following our story, supporting us through this process, all of the generous contributions to us and SWAN USA, spreading awareness about what families like us go through and for all the kind comments and emails I receive. I read all of them and they give me strength to continue pushing forward. I am grateful for Ambry for even making this test possible to use in a clinical setting. It may not be 100% but it was the best thing available to us at the current time and did come with some results. It did knock out about 4000 known syndromes that I could have possibly had to keep testing for one at a time over the next several years. I am so grateful for Dr. Lawson Yuen for leading us down this path, inspiring hope and understanding this is far from the end of the road for us.

I will continue searching for research opportunities and am anxious to make the trip to the NIH Undiagnosed Disease Program. I will continue doing absolutely everything I humanly can to find the answer. And if all else fails...I guess I will be applying to medical school to become a researcher (not joking).

"I carry your heart with me (I carry it in my heart)" --e.e. cummings