Mito Brain Dump

~Mitochondria are in every cell except red blood cells. They take "raw energy" and convert it into usable energy similar to crude oil being refined into gasoline. Since Celia's mitochondria are not working properly, her limitations now are due to this malfunction.

~When you have one Complex not working, you may have more. Celia has Complex1 and it is usually combined with III or V. The tests show III is working and they haven't tested V so we don't know what else may be wrong.

~They are also doing DNA sequencing and that may not be complete for months. That could tell us whether her mito is primary or secondary to another metabolic condition. They will also do the same DNA sequencing on Sofia.

~She DOES NOT have CP. This mitochondrial disease is the cause of her problems. It is also not muscular dystrophy.

~They used the words "fragile" and "very fragile" 3 times in 2.5 hours when referring to Celia and her health.

~ They determined she has acid reflux and started her on medication. It is common for mito kids to have digestive issues and these could progress.

~Even common colds can be life threatening to her. She may need to be hospitalized when she has normal childhood diseases to monitor her fluids and treat it aggressively.

~She needs to eat every 2 hours when she is awake.

~She can dehydrate VERY easily, and that could be life-threatening.

~ They are concerned that she may not be getting enough oxygen support so she needs a sleep study to see if she will require oxygen at night.

~Fatigue can also have a negative impact, so she should rest/nap two times a day.

~Forty percent of mitochondrial disease patients also have cerebral folate deficiency. Since we have seen very little to no change, they have upped her leucovorian to see if that will help. We also now know that CFD is not her primary problem.

~Mitochondrial disease is progressive.

~ Her prognosis for the long term is unknown. She has not been seriously ill with a fever since we have had her. Illness can start the downward slide of losing skills/function that was once mastered. Those may or may not ever be recovered. How she can rebound after illness will tell us a lot.

~ The vitamin therapy may or may not help her. It will take several months to know.

~We have decided she still will go to a special pre-k starting next week. She is one of two children in her class, and we don't want to tax her physically, but mentally she could use more stimulation and they have the special needs tools to do that. If she is too tired, or she gets sick, we will pull her out.

~We are taking a 3 week break on OT and PT private therapy to allow her to adjust to her class
 (3 hours a day/ 3 days a week) and we will see what she can tolerate.

~ The Geneticist that is caring for her is Dr. John Shoffner who specializes in mitochondrial disease. He will see her every 3 months and will now oversee her care. She will be seen regularly by a neurologist, a pulmonologist, and when she is even irritable, it warrants a trip to the pediatrician to see if we can catch sickness early and treat it aggressively.

~ We are overwhelmed and exhausted. We are dealing with the magnitude of what this means for our Celia.

~ We cry a lot. We pray even more.

~ We covet your prayers.