mild mito

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Ann,I am sorry it has taken a while for me answer this question but it looks like others have answered as well which is always nice. When I refer to my daughters as having a mild presentation, for our doctors and I, it is partly because when we compare their symptoms with Zach and Sam- anything less seems mild. More importantly, it seems mild to me because there are very few things that have to be put into place in order for them to learn, have fun and go from place to place. The oldest started showing symptoms at age 14 - in retrospect her "asthma" was really diaphragm weakness and that showed up at age 10 but we did not know. She has severe migraines with nausea, pain and dizziness, clonus and occasional myoclonic jerks, pituitary dysfunction (only affecting her thyroid hormone production at this time), lactic acidosis that leads to severe leg cramping, Co Q deficiency and a progressive restrictive lung disease due to weakness of her chest. But she has played varsity soccer since she was a freshman and she is so good that coach has been wonderful with only putting her in for short spurts to decrease the aftermath of symptoms. She is an honor student, has a part time job, can drive and go out with friends...she'd be even more functional if she was more careful with herself and remembered her meds but at age 17 I don't know if that is possible. So she does get herself into periods of time (1-2 days), during which she cannot do anything but sleep. My 11 yr old daughter was very affected from age 0-3. No one can explain her improvement but at this time her only symptom is the fatigue and beginning to have the chest weakness. She loves life and is part of it in very way. The mito docs tell me that she may go down again when she is older but for now we don't focus on the maybe. I think the term mild mitochondrial disease is pretty non specific and more than anything pretty subjective. To some the words mild and mito should not be in the same sentence and there is no such thing. I think much of it is based on experience. There is certainly not any objective scale that I know of that says to us this is mild if you have these symptoms and this is moderate, etc. The same group of symptoms could seem mild to one doctor or family who have had experience with someone with severe presentation (and what does that mean?) or if it does not seem to impact their function and mobility as a family. To another doctor and family it could be the only mito disease case they have ever seen and the uncomfortable feelings with the unknown could alone transform it in their minds from mild to moderate or even severe. If the family loses function, does not have any help in continuing to find ways to have fun and just be a family then the disease in my mind is more severe. In Europe they actually do not use ICD codes the way that we do in the states. They use these other codes that basically look at function...how is this disease affecting the person's ability to live life . A rehab and physical medicine/fitness doctor that we stole away from Cleveland Clinic taught me that and I think it makes much more sense. I teach 3rd year pediatric residents a course on special health care needs and this is what we try to say to them as well. The difference between a mild and a severe disease is not simply the symptoms - it is how it impacts the function of the child, family and community. So if you want to take a severe disease and make it less severe, don't just focus on symptom management...figure out how to help the child or family live life. I think the same could be said to all of us and I remind myself of it daily. Several of my dear friends have had a child or children die from mito disease. But I never thought of those kids as having a severe disease because their parents did such an awesome job of grabbing life for those kids. Annewww.caringbridge.org/wi/zachsam