UN-Diagnosed

This quiet hesitation that has been eagerly lingering in the back of my heart...

Ellie does NOT have Paternal UPD 14

The lab was wrong.

They will walk away from this unscathed.

We will walk away from this saddened by the loss of hope.

I started writing this blog several weeks ago because something never made sense to me. I didn't understand how Ellie could be diagnosed with something so extremely rare when it seemed that the possibility of human error was far more likely. Ellie did have some of the signs, but not some of the key markers. I always thought that when I saw another child with the same diagnosis, I would have this "ah ha" moment. After spending weeks researching medical journals of children with Paternal UPD 14, I never really felt as if we resonated the same note.

I am SO grateful for our brilliant geneticist who did not accept this diagnosis and then wash her hands of us, but for pushing forward, seeking to understand Ellie better, for correcting the labs mistake and repeatedly pushing to have the results released to us. We just love her and she makes this difficult journey so much easier to travel on. We could have lived a lifetime without knowing the truth and I believe that to be the greater tragedy.

And on this journey, I have met so many wonderful families with undiagnosed children. They feel like home to me. They are truly some of  the most amazing people I have ever met. I am so blessed to know them all. Part of me is at peace to once again feel wholeheartedly connected with them.

But the answers I had with this diagnosis, I am mournful to lose. 

I am sad for the unknown...again.

I am scared to start looking for answers...again

 

The prognosis for Paternal UPD 14 had a promising lifespan after infancy and medications for methylation disorders are currently being researched. I had hope for the possibility that one day a miracle drug could flip the cognitive light switch on. I am so fearful in what we may find, as I was finally beginning to take comfort that the following statistic wouldn't apply to us,"30% of rare disease patients die before the age of 5." I am terrified at the thought of having to watch my child die when too many of the mothers I have met are already living this nightmare. 

 Every breath I take is for my family.

But even though I feel exhausted and unable to keep up with life...I still have hope. And it gets stronger with every glance into my daughters' eyes, windows to her soul that etch into my heart an irrevocable and unspoken love.

She is my baby, my love, my life.

"I surrender who I've been for who you are

for nothing makes me stronger than your fragile heart...

If I had only felt how it feels to be yours... 

I would've known what I've been living for all along"
   
                                            Lyrics written by Ryan O'Neal (Sleeping at Last)