Mitochondrial Disease

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.

mito person

some of the problems that come with mito disease

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About Kathleen McLaughlin-Hoppe

Kathleen McLaughlin-Hoppe, or me, as I like to think of myself, has written articles for numerous publications, including Exceptional Parent Magazine and numerous magazines and newsletters that cater to the Deaf and hard-of-hearing community. I was once a devout Catholic, and that led me to have 8 great kids, which is the only positive thing I can say about the experience. I am now an atheist. I worship only the symphony of science, the cleverness of the "Doctor Who" empire, and the fellowship of all who listen to "The Nerdist" podcasts (or love The Nerdist website and all it embodies in general.)
This entry was posted in chronically ill, death and dying, grown children, humor, large family, metabolic disease, mitochondrial disease and tagged , , , . Bookmark the permalink.

52 Responses to Mitochondrial Disease

  1. I hope that you surgery was successful. Thank you for sharing your life with us.

  2. clinicalrph says:

    Reblogged this on clinicalrph's Blog and commented:
    Thank you for sharing.

  3. ediblevie says:

    Best of luck in your upcoming surgery — have you considered taking any natural herbal medicines like Milk Thistle to reduce stress on your liver and aid in detoxification? Just a suggestion… you can contact me through my blog if you have any questions. Kasia.

  4. Far Away Books says:

    There are always answers. But it takes time to find them. Your children will benefit from better science, and from the fact you know what is wrong and therefore have given their doctors a starting point.

    Whatever you might feel, I suspect none of your children would wish not to exist.

    Many people, with terrible medical problems, have gone on to lead incredible lives. What made the difference was people in their lives who loved them, who encouraged them to look beyond their circumstances, and who supported their choices even when the world told them “A person like you shouldn’t . . . can’t . . . ought not . . . .”

    You are your children’s greatest asset. I hope you’ll be in their lives a long, long, long time!

  5. dominikanita says:

    I hope you get what i think you most desire: to see your children grow up.

  6. Katharine says:

    Thanks for your honest post. My mito issue is AMA (anti-mitochondrial antibodies) in my biliary tract, which has led to the auto immune disease primary biliary cirrhosis – PBC. People jump to “drinking” conclusions when they hear “cirrhosis,” as I’m sure you know.
    One of my children has been diagnosed with an auto-immune disease, discovered when she went to be tested to see if she could donate part of her liver to me (I’m awaiting transplant, without which I’ll go into liver failure). At least my daughter found out early enough to save her kidneys, but it does mean taking meds for the rest of her life. No one warned me against having children because my PBC was undiagnosed for years. My life has changed radically as I deal with frequent hospitalizations and invasive procedures. So I have an inkling of what you are going through. My heart goes out to you. Hang in there.

  7. rajputt says:

    Reblogged this on Speak for peace.

  8. Posky says:

    This doesn’t sound like a ball.

  9. nearlynormalized says:

    Key phrase at the beginning of your blog, “Should have told me, don’t have kids.” I can only imagine what you are going through…You are tough and not a quitter. Life is good in between the battles. Candles are lit and may you have much time to fight another battle.

  10. handokoajiwardana says:

    Reblogged this on Handoko Aji Wardana.

  11. kelcyward says:

    God Bless you. Praying for a safe surgery!

  12. They diagnosed me with Graves disease 20 years ago and since 2005 have not been able to find out whats wrong with me. They gave me a diagnosis in 2008 of Multiple Sclerosis and then they took that away! One person named what you have once but nothing came of it. I may have to go to Mayo…I also believe God still heals and will be praying for you!

  13. kkayser says:

    reminds me of anatomy

  14. otionblog says:

    You are very brave. Best wishes for your surgery.

  15. Rita Kay says:

    God’s Blessings upon you and your family.

  16. I pray for a good surgery (though I assume this comment might be a little late)!

  17. Aurora HSP says:

    Wishing you all the best and thanking you for sharing this, did not even know of this disease. Much love, light and healing going to you from me right now.

  18. Hey, this is a sad story – but hope you get to accomplish all the things you want to do.

  19. TGVA says:

    Hey Amazing woman. Thanks for the bare honest talk and reaching out by sharing it. Sending out positive vibes and wishing you a speedy recovery. I also hope you have some amazing moments with your children during the holidays.

  20. Bren says:

    Good luck with your surgery xx

  21. ralphbuttler says:

    Reblogged this on Auf dem Dao-Weg.

  22. All the best for your surgery and wishing that it will be smooth sailing.

  23. bamadelight says:

    I respect the way you deal with this awful disease. I am praying for you that your surgery is successful and the recovery is as painless as possible. Please remember that God is ALWAYS with you and He believes in you even when you doubt him. I too have a debilitating movement disorder and I have had many times that I asked “Why me?” But if it wasn’t for my faith and the power of prayer, I would not be able to function at all. I’m praying for you to find God again. When you do, oh what a testimony you will have!

  24. huffy says:

    I just stumbled across this, and I really enjoyed the witty yet serious read. I even learnt something new!….I hope your op goes well, and you recover quickly! :)

    Peace&Love

  25. jenfbs says:

    Wow! You’ve been thru so much! I do hope and pray for a successful surgery. I hope post surgery you get some peace and improved health, not only for you but for your children.

  26. Barbara says:

    Bloody hell. That will teach me for moaning about my Neuralgia!

    Hope the surgery is quick & painless & the recovery also xxx

  27. I wish you quick recovery and another at least 50 years for your children, family and friends.

  28. Good luck with the operation. I have ME/CFS so I understand some small part of what you are going through.

  29. julzH says:

    Thank you for sharing this.

  30. Reblogged this on cekosupriyadi and commented:
    owhh in the reality

  31. God bless you with strength and patience…praying for you!!!

  32. Hope your surgery goes well!

  33. ryaandavis says:

    Reblogged this on Ryaandavis and commented:
    Mitochondrial Disease

  34. Wish you a Good luck and a speedy recovery. Godspeed.

  35. hilaryisaac says:

    Praying for a highly skilled and compassionate medical team to handle your surgery. I also pray for healing for you and your kids! Thank you for being so brave as to share this with a world of friends you have yet to make :-) God bless you!

  36. Rohini says:

    Good luck on your surgery. It is brave of you to share your story, and raise awareness about the disease.
    Wish you the very best!

  37. confusedatma says:

    Hey there! It was a different experience to have gotten the chance to read about something like this from a personal point of view. I just recently became a doctor, and through out med school, we have just been forced to memorize facts about diseases, rather than the impact it really had on the patient. I wish you all the best for your surgery, and I hope all goes well. If you do get nervous, just try talking to the nurses or the doctors… They seem mean behind those masks, but a lot of them are a lot nicer than you’d think.

  38. TheGirl says:

    Thanks for sharing! I find you very candid and honest despite facing a debilitating disease. but you seem to live as full as possible!

  39. mrs fringe says:

    Thank you for this post. My Flower Child is suspected of having a Mito Disorder, takes a mito cocktail in addition to seizure and migraine meds. I wish you peace, strength, and healing for your upcoming surgery.

  40. blobsofdoom says:

    Mine is not even comparable to yours, but I know how it feels to have a terrible disease. I admire your positive attitude and hope your surgery will go well!

  41. Thank you for sharing your story and I am sorry for what you are going through. I will pray for God to bless you and your family. I just found out that I have a rare brain disorder that I was born with. It is a congential brain cyst, which they say is not causing my headaches. I went to the hospital with such a severe headache that nothing was helping, and the CT at the hospital showed my congential brain cyst. I was referred to a neurologist (September of this year) and through him I got an MRI to make sure that it wasn’t a brain tumor and it did confirm this to be a harmless, congential brain cyst. I will keep you in prayers. I did enjoy reading this.

  42. segmation says:

    Good luck to you with your surgery tommorrow and I hope you have more than 10 years to go!

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