Genetics Schmetics
We had another 2 hour visit with mito-reknown Dr S's team yesterday.
The whole thing makes my head spin, but here we go...
~She presents WAAAYYY more severely than her tests show. Most of her blood work is unremarkable. Only one test showed a definite positive for Complex 1.
Sounds like good news, doesn't it?
Not really.
~She still presents VERY severely for this disease. She has almost all the symptoms of Leigh's Disease (google at your own risk- it's a horrific thing) but she didn't have brain lesions on the MRI from last year. To truly have Leighs you must have lesions.
Good News?
Maybe, maybe not.
They want to do another MRI to see if they have developed since her MRI last January.
We are not out of the woods yet.
~She has cerebral folate deficiency, and we have been treating that since last June with no real signs of improvement in function or skills. She is on the border for abnormal, so it isn't really severe but it's there. They originally thought the blood-brain barrier was not allowing folate to get to her brain. Turns out, her blood-brain barrier is normal.
Good news?
Nope.
She has CFD and now there is no logical reason why. We upped her meds on this one, and she will need another spinal tap to see if we are making progress in her levels. Either way, we aren't changing her physically through what we are doing, so her hypotonia doesn't appear to be related to her CFD.
Which means, it is because of the mito. :(
~They think she is having seizures, which I have been saying for awhile. She has had several freaky episodes, and although the EEG was normal, it just means that she didn't have a seizure while she was doing the test. We will schedule a much longer EEG.
~ They do not want her to re-start PT, OT or even feeding therapy. The thought is, that it is just too taxing for her to handle. She said the only way she would allow it is if we A) Did it at home so she didn't have to be exposed to germs B) Did 10 minutes and C) Had a 30 minute break before allowing 10 more minutes. Why bother, right?
We were told, "Shift your thinking instead of making her stronger, and looking for progress to just make her happy and comfortable and keep her healthy."
Punch. in. the. gut.
~They feel that the fact that she is not regularly asking for food is very telling. She obviously does not want to eat. It makes her uncomfortable, or is too tiring for her OR BOTH. We know she is aspirating and that can't feel good. They are recommending that we not rush to re-start oral feeds, and honestly she said Celia may never return to it.
I would be more upset about this, but really, we can tell she is more relaxed now. I think it was just TOO MUCH for her to handle, and she is letting us know this way is better.
~She wants another sleep study (she had one low desat on her last one that is concerning) and another swallow study as well as the MRI, and the EEG and the spinal tap. The plan is to get all approved through insurance and admit her for all these tests for 24-36 hours.
~ Her DNA testing should start rolling in in the next month or two. They were able to get blood from Sofia and will compare Celia's DNA to Sofia's. They re-iterated that no one feels Sofia has mito in any way shape or form. As a twin, she could be the key in unlocking the Celia DNA code.
It's all overwhelming.
Bottom line is, she is WAY TOO SEVERE in physical presentation in relation to her labs, so they know they have not found all the answers.
We continue to trust, hope, pray and believe that God authors all of our days, and He alone will number Celia's. No disease, no complication, no illness will take her life one day before He has ordained.
It is our comfort and strength.
The whole thing makes my head spin, but here we go...
~She presents WAAAYYY more severely than her tests show. Most of her blood work is unremarkable. Only one test showed a definite positive for Complex 1.
Sounds like good news, doesn't it?
Not really.
~She still presents VERY severely for this disease. She has almost all the symptoms of Leigh's Disease (google at your own risk- it's a horrific thing) but she didn't have brain lesions on the MRI from last year. To truly have Leighs you must have lesions.
Good News?
Maybe, maybe not.
They want to do another MRI to see if they have developed since her MRI last January.
We are not out of the woods yet.
~She has cerebral folate deficiency, and we have been treating that since last June with no real signs of improvement in function or skills. She is on the border for abnormal, so it isn't really severe but it's there. They originally thought the blood-brain barrier was not allowing folate to get to her brain. Turns out, her blood-brain barrier is normal.
Good news?
Nope.
She has CFD and now there is no logical reason why. We upped her meds on this one, and she will need another spinal tap to see if we are making progress in her levels. Either way, we aren't changing her physically through what we are doing, so her hypotonia doesn't appear to be related to her CFD.
Which means, it is because of the mito. :(
~They think she is having seizures, which I have been saying for awhile. She has had several freaky episodes, and although the EEG was normal, it just means that she didn't have a seizure while she was doing the test. We will schedule a much longer EEG.
~ They do not want her to re-start PT, OT or even feeding therapy. The thought is, that it is just too taxing for her to handle. She said the only way she would allow it is if we A) Did it at home so she didn't have to be exposed to germs B) Did 10 minutes and C) Had a 30 minute break before allowing 10 more minutes. Why bother, right?
We were told, "Shift your thinking instead of making her stronger, and looking for progress to just make her happy and comfortable and keep her healthy."
Punch. in. the. gut.
~They feel that the fact that she is not regularly asking for food is very telling. She obviously does not want to eat. It makes her uncomfortable, or is too tiring for her OR BOTH. We know she is aspirating and that can't feel good. They are recommending that we not rush to re-start oral feeds, and honestly she said Celia may never return to it.
I would be more upset about this, but really, we can tell she is more relaxed now. I think it was just TOO MUCH for her to handle, and she is letting us know this way is better.
~She wants another sleep study (she had one low desat on her last one that is concerning) and another swallow study as well as the MRI, and the EEG and the spinal tap. The plan is to get all approved through insurance and admit her for all these tests for 24-36 hours.
~ Her DNA testing should start rolling in in the next month or two. They were able to get blood from Sofia and will compare Celia's DNA to Sofia's. They re-iterated that no one feels Sofia has mito in any way shape or form. As a twin, she could be the key in unlocking the Celia DNA code.
It's all overwhelming.
Bottom line is, she is WAY TOO SEVERE in physical presentation in relation to her labs, so they know they have not found all the answers.
We continue to trust, hope, pray and believe that God authors all of our days, and He alone will number Celia's. No disease, no complication, no illness will take her life one day before He has ordained.
It is our comfort and strength.
Love. I send you so much love.
ReplyDeleteIsaiah 40 was the lectionary reading for last week. I thought of you when I read Isaiah 40:11 "He will feed his flock like a shepherd; he will gather the lambs in his arms, and carry them in his bosom, and gently lead the mother sheep. " Praying for God's arms to comfort you.
Upholding you in prayer as you trust in our sovereign Lord. Celia is so blessed to be enveloped into your loving family. It blesses me so much to read of how this trial has been used by God in so many ways. May Emmanual, God with us, be your peace and strength!!!
ReplyDeleteChristy and the rest of you in Celia family. i am so sorry that you are still learning for answers and that some of the methods you have been trying isn't working the way you wanted them to. The whole time I read you entry I kept saying you have such a happy daughter, she is so loved that even with all the "ugly" medical things happening to her, she still knows how to smile and laugh. The fact that you guys involve her in every thing and give her the best quality of life is amazing for her. Hugs to you alland be strong my little Celia.
ReplyDeleteHow in the world did Celia survive in the SWI in China? Thank heavens you brought her home when you did!
ReplyDeleteWhere there is mystery, there is a lot of room for hope. I'll continue praying for her.
With all that information (or not) the one thing that we all said from the beginning is still true.
ReplyDeleteShe is totally in His hands and He is totally in control. I don't think I could take another breath if I didn't so completely believe that. He gave her the worlds most beautiful smile and that special "look" that she only gives to her Daddy. He also gave her a family who loves her unconditionally. What more could we ask?