The New Doctor.

We took Celia to see a new geneticist last week. She, just like every other dr. who has ever seen her, is puzzled by Celia.

Basically, Celia has Mitochondrial disease complex 1. Since she doesn't have the brain eating lesions (THANK THE LORD!) she is way too severe for just complex 1. Most kids who present like she does have Complex 1 and 3 OR complex 1 and 5. I know that means nothing to you, but she is a medical mystery because she only tested positive for complex 1.

She feels that Celia is in one of 3 categories:

~She has complex 1 and the tests were skewed and she also has complex 3 or 5, which would explain the severity of her presentation.  Her plan is to retest for 3 and 5.

~She has mito complex 1 AND another neuro-degenerative disease that has yet to be discovered. Her plan is to match Celia's symptoms with rare genetic disorders and test the DNA strands for each of those to see what we find. Basically, it's a field of rocks and we have to look under each rare disease that match her symptoms to hopefully find a diagnosis.

~She has a disease SO SEVERE that she really doesn't have mito, but her mitochondria are not working properly due to the severity of the disease that is yet unnamed. Call it sticking my head in the sand, but I don't think this is the one.

She also said that kids like Celia fit one of two patterns in their decline. A steady downward progression OR,  like stair steps. A time of status quo and then a drop in health status followed by a status quo. Celia is MOST DEFINITELY a stair step kid.

And then I asked the question.

I don't know why I did, except that I am her mom and I just did.

Long term prognosis.

She said, "I never lie to my patients and I can tell you that I am VERY, VERY concerned about Celia."

So I came home and cried.

And cried some more.

And ached the deepest ache in my heart that a parent can possibly have.

And then re-directed my thinking once again:

Life is short for ALL of us. Only God numbers our days. I trust Him to guide us through each day and that He loves her far more than we do. And as much as I can, I surrendered to His plan.

And then I put all the nasties of medical diagnosis, and prognosis in a box on a shelf in the recesses of my mind and chose to live TODAY.

TODAY, I have four beautiful girls who are excited about their brother's wedding. Who can't wait to go to "Yo's Beach" as Sofia likes to say. I have clothes for 4 precious girls to pack for a week of fun and laughter. I have the JOY of adding a new daughter to our family just 9 days from now.

Although we should be empty-nesters, God saw fit to bless us with these 4 precious gifts and our days are full. Celia is happy. She loves her family, and the comforts of home. She is stable and healthy enough to travel.

I am richly blessed.
No diagnosis will ever change that.