This is the mychart message I got:
The additional testing on the muscle biopsy came back normal. The additional testing included analysis of mitochondrial electron transport chain activity, and analysis of mitochondrial DNA (mtDNA).
The mtDNA content was not within the range observed in patients with proven mutations in genes responsible for mtDNA depletion syndrome.
Have I mentioned lately how much I HATE the word NORMAL? This was the test we were SO hopeful would give us answers. Thats the message I got. No plan of what to do next. No words of where we go from here. Not even a phone call.
I have cried today, I have yelled and I frankly have been rather pissed off.
I am not a person who questions where God is, as I understand He has timing for everything however today is a day that I ask Him why no answers. Why is He leaving us hanging? What is He trying to teach us?
Jillian has speech and PT today and as her PT and I talked her PT got just as mad as I am. This is a kid we did her goal review on today and is keeping almost all of the same goals because she has not completed them. Her PT agreed with me today that her walk is looking really goofy and not like it has in the past. We did her speech goal review today and that did show progress :)
There is SOMETHING going on. Today I sat here questioning myself, is this all in my head, was I crazy, and then my husband reminded me of all of the different tests that we have had that showed us something is not right. Reminded me of the things we noticed in Disney about Jilli that were so different then a "typical" two year old. We try not to compare her to others but there are times the differences are large. She SAT in her stroller most of our time at Disney... what other two year old does that?
Her throat does not swallow right, her stomach does not move food out of it properly, her large intestine does not move food out properly and stops pooping for weeks, she aspirates, she requires oxygen to move around, her legs have low muscle tone, she requires orthodics for proper foot placement and still struggles to walk in a coordinated way, she stops peeing for days at a time, she was born at the top of the growth chart and now sits at the bottom, her body reacts in a why to vaccines that confuses doctors, she does not hear low tones, everything that is going around hits her and goes right to her lungs, she sweats a lot more then she should and at odd times, her sleeping patterns are odd, and the list goes on. That list is not "normal," something is going on!
At the same time she is a sweet little girl who is very smart and logical and smiles most of the time when everyone else would be upset. She is amazing and such a blessing! I could not imagine my world without her and would not trade her! She is kind and caring and loves people.
I just want to be able to help her and to best do that it would be really helpful to have a name for this.
So today I sent Jillian's ped a message of desperation asking if she had any ideas for me. Her nurse called me a little while later and said they would like to send Jillian up to Madison for a genetics second opinion and Brent and I agreed. I love Children's in Milwaukee (we just participated in their walk this weekend) and I still wholeheartedly believe their GI department by far is the best place for Jillian as they look at her needs and don't try to fit her in a box because her symptoms are odd, however in the genetics department we need a second look. We currently don't have a genetics doctor in Milwaukee since ours left so now is the time to see if a different set of eyes have any other ideas.
I am nervous about this. I spent time this afternoon filling out the paperwork to get Jillian's medical records released to me (I think that is a good idea anyhow, I want to see everything to see if maybe in the mix of a ton of different doctors if something was missed or forgotten) and then we go from there. Children's in Milwaukee has always been our home and going someplace else feels odd. I don't know people in Madison like I do in Milwaukee and that new feeling is scary. I am hopeful that they will be able to help us. I am praying that we get assigned to the right genetics doctor in Madison and that we are able to get into them quickly.
Tonight my head is just in a swirl.
But we are trying to make the best of it. Dan is over and playing with a little girl who is laughing and laughing, she loves her uncle Dan time, and Brent is on his way home. I have a tenderloin ready for dinner and stuffing too. Tonight might require some chocolate after dinner, trying to remind myself that even though today feels like a massive punch in the gut we will put one foot infront of the other and figure out the next step.
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