I’ve known for quite a few years that I have a rare disease. Actually, as a kid, I had such strange ailments that my parents took me to Mayo Clinic, where I we were told it was Lupus. My sister still carries that as a diagnosis. Doctors said I would probably never have children. What they should have said is “You should never have kids.” That way I would not have passed on whatever genetic mutations have caused so much suffering for so many of my kids.
But I was cocky when I was young. And I felt pretty good while pregnant and nursing. In time things caught up to me. I produce so many kidney stones that both sides of my body show evidence of stones present, and those who have left behind scar tissue. Tomorrow I go in for surgery to remove a monster stone from the left side that is eating away the kidney tissue where it impacted. I have a dual kidney on the right side (yep, two of them) and they both have stones bouncing around in them right now.
It’s amazing what you can get used to though. While the kidney stone pain can at times be nearly unbearable, I know what causes it, and just go on with life the best I can. A couple of months ago, a pain came on that was different enough to send me to get checked out. That was when tumors were seen in my liver and in my ovary. The whole process of determining what these are and whether they need surgery has been very frustrating. The feeling of doctors is that once you have confirmed metabolic disease, as I do, that any and every health complaint is probably associated with that disorder. But people with metabolic disease still get cancer, still get viral and bacterial illness. So the appearance of an odd tumor in the liver is not a big deal. It’s probably the same lipoma type thing I have in my brain. It’s kind of fun to admit to having a brain tumor in the center of my brain. People cut way more slack on my memory issues.
The status of my liver is that it is looking…unwell. And I’m not even a drinker. I get enough headaches without adding hangovers to the equation. Back at Jean McNair Middle School in the 1970s, I had a social studies teacher who boldly told our class “By the time you are 18, I guarantee that each and every one of you will have gotten drunk and viewed a porno movie.” It pissed me off that Mr. Waldron could presume to judge me, and I still have done neither of these activities. Maybe if he’s still alive somewhere, I can get in touch with him and do both with him. My point is that my liver is not in pre-cirrhosis state due to alcohol. It’s the dang mitochondrial illness. This is a list that doctors use to see if a symptom fits with metabolic disease:
The following are examples of potential manifestations affecting each of the major organ systems:
* Growth failure, failure to thrive, weight loss
* Ambiguous genitalia, delayed puberty, precocious puberty
* Developmental delay, seizures, dementia, encephalopathy, stroke
* Deafness, blindness, pain agnosia
* Skin rash, abnormal pigmentation, lack of pigmentation, excessive hair growth, lumps and bumps
* Dental abnormalities
* Immunodeficiency, thrombocytopenia, anemia, enlarged spleen, enlarged lymph nodes
* Many forms of cancer
* Recurrent vomiting, diarrhea, abdominal pain
* Excessive urination, renal failure, dehydration, edema
* Hypotension, heart failure, enlarged heart, hypertension, myocardial infarction
* Hepatomegaly, jaundice, liver failure
* Unusual facial features, congenital malformations
* Excessive breathing (hyperventilation), respiratory failure
* Abnormal behavior, depression, psychosis
* Joint pain, muscle weakness, cramps
* Hypothyroidism, adrenal insufficiency, hypogonadism, diabetes mellitus
I have a shockingly large number of these. I know my life span will be shortened. My anger comes not from the lack of control I have over most of what is to come as over what has happened and will happen to my offspring. I’m not wishing even one of my kids away, but if I knew then what I knew then, I would not have had kids. What right did I have to visit it upon them? But what’s done is done, and I hope they will forgive me. I hope they will benefit from the research that is being done. I hope they will embrace the lives they have and say “Well, at least I AM alive,” and will do all they can with each day they are given.
Tomorrow I have the first surgery of many more to come. I hate anesthesia. I hate being in the hospital. It has gotten worse with age. But I will try to be as brave, witty and hopeful as I can be at each stage, because there are 9 people in the world that I love beyond description. I’m not being vain when I say that at least a few of them would be devastated by my death. I need to be around at least another ten years to see my kids all safely into adulthood, and will do what I need to do to make that happen.