Areli had a brain MRI earlier this month, which I will spare you the horrible details of. All in all, after a day full of bumps in the road and a lot of tears from Mama and Areli, we learned that Areli's brain is normal!! Which means that we have a better chance of being eligible for a transplant, if that day should come AND it means that the suspicion of seizures is gone! The "seizure-like" movements she does turn out to be a movement disorder, which should resolve itself.
This month Areli also demonstrated another symptom of mito. When a persons body is energy compromised, a day in the sun, stressful situations, or too much activity can cause an energy crash. An energy crash can result in a minor to major crisis in the body. A few days before her MRI we spent a whole fun filled day outside in the sun with family and friends. Areli seemed tired, throughout the day. Her eyes seemed very droopy and she was just not as active as normal.
Notice she isn't focusing her eyes.
That evening after she was asleep for the night I noticed she had a fever 103F. For the next two days Areli struggled with regulating her temperature and exhaustion.
She slept all day for two days and refused to eat or drink anything but milk. Our day out in the sun took so much energy from her it took two full days to recover. She ended up having another energy crash after her MRI which ended with another scary high fever and lethargy. We are now learning how to monitor Areli's energy and heat intolerance so that she can still enjoy the summer without the repercussions.
Areli's gene results also came back this month. If you remember we have been waiting on this gene work for 3 months. We were hoping with these results we would know more about her specific disease and prognosis. The 4 genes in Complex III all came back normal. Which sounds good, but actually isn't. The doctors have absolutely no prognosis and we still don't have a specific diagnosis. There is only so much they know about this disease. They know Areli has complex III, yet the genes in complex III are normal, doesn't make seems huh? Unfortunately, there are A LOT of unknowns with mito. So in an effort to find her specific mutation we at doing an entire DNA sequencing. They took my blood, Daddy's blood and Areli's and will try to find a mutation. This will take years to do. In the mean time we are testing a few other genes associated with specific liver involvement, but it is looking like we will not have a specific answer for years, which is pretty common in mito.
Areli will also be getting a skin biopsy in a couple weeks and will see a cardiologist to rule out heart involvement. We are also starting her on her "mito cocktail" ( the only treatment for mito which is different supplements and vitamins).
As always, you all are in my prayers! Praying you get more answers sooner than later!
ReplyDeleteThank you Molly :) we really can't explain how much well wishes and prayers mean
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