The scar is much bigger than we thought it would be.
Lila's Doctor called from Primary Children's today to let us know that her muscle biopsy came back. Lila had 9 different mutations in her muscle DNA but according to the scientists they are not significant mutations, meaning they wouldn't cause Lila to be the way that she is. I'm sure we would all be surprised to know how many mutations we all had. They want to get a blood sample from me to see if I have the same mutations then we would know with 100% certainty that her mutations aren't causing whatever is going on with her. This test concludes all that we can learn from the muscle biopsy. Which everything else, the staining and such, it all came back normal.
It's pretty bitter sweet for me. While I am thrilled they didn't find anything, I am heartbroken not to have any answers. No help with trying to predict how her future will go. The muscle biopsy is the last in a long line of tests. Primary children's is officially stumped. We now will only see our Doctor for checkups and in case new problems present themselves. Our doctor has gotten in touch with a specialist in San Fransisco who deals with children with ACC to see if he would like to see us, or we will try and send off her results to the Mayo clinic.
I'm pretty defeated. Part of me wants to fly all over the country to see what all the specialists know and part of me just wants to take Lila and never walk into a doctors office again.
I believe that Lila had a seizure today. Her second if I am being honest with myself. I hope and pray that more adverse symptoms are not looming around the corner but part of me is bracing myself for more horrible news to come. I don't know how it can get much worse but from watching a dear friend I am reminded that it always can. I have to wonder how much longer can this go on? Stuck in this frozen moment of no progression and yet not really getting worse. Not having any answers. It's a pretty painful place to be.
9 comments:
I'm so sorry.
The not knowing how to best help Lila is agony. I'm sorry.
I am so sorry! You guys are in our prayers.
What can I say but I am so sorry! I have been thinking about you guys a bunch and I would love to see you. I am practically your neighbor now! Let's get together for lunch or something.
as you well know, sometimes it's good to hold on to little hopeful phrases, and the one I am drawn to is "no news is GOOD news." I know that doesn't help much, but it's a saying for a reason, and I am hopeful. love you.
I would love to do lunch with you again and hold cuddly lila again. Let me know when you want to go! I am sorry that you are still not getting anywhere
Love and prayers to you!
Did they do ETC testing? That takes months to get back...which is why I'm thinking they didn't do it. This is why biopsies are complicated when done at hospitals with pathologists that don't understand metabolic diseases, particular in children.
Obviously there is no guarantee that you get answers by doing it...but they are missing the biggest piece of the puzzle if they didn't do the ETC testing. It is nearly unheard of for the other pathology (unless they can find a confirmed gene mutation) to come back as diagnostic because children haven't lived long enough to show much of the signs in there muscles (like ragged red fibers). Often the pathologists are only looking for Ragged Red fibers..but those only happen in late teens to adults.
Push push push for them to send the tissue to either Atlanta or Baylor for pathology for the ETC testing.
Thanks Sarah for your concern, her muscle biopsy was in fact sent to Baylor.
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