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Melas history 2.0

This publication contains an abbreviated version of my wife's medical history as an individual with the full form of the MELAS Syndrome, a mitochondrial disorder.
(Some of the symptoms and clinical signs of the MELAS Syndrome discussed in this publication may be applicable to other mitochondrial disorders.) Karen Ann Jackson 1956-1992
This material was created, (and/or) assembled and edited by Michael J. Jackson And is available in PDF format at the following URL: Copyright 1997 2000 Michael J. Jackson - All Rights Reserved MELAS: Mitochondrial Myopathy, Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes -or- Mitochondrial Encephalomyopathy, Lactic Acidosis, and
My thanks go to the doctors, nurses, researchers, medical personnel and facilities, support groups and organizations, "mito" families, and individuals that all contributed some part in making it possible for me to produce this publication. My thanks go also to my parents for their support, comfort, and encouragement during my wife's illness and when she finally succumbed to the MELAS syndrome.
I also have a special thank you for my son, Michael.
Thank you for loving Dad so much, helping me to adjust to Mommy going Home, and for helping me with this project and the MELAS Online Network (closed August, 1998.) My most deeply felt thanks goes to my wife Karen Ann for so bravely enduring her illness, and for her encouragement to make her suffering into something that would help other families and individuals with mitochondrial disorders.
… and, without God's grace and mercy this publication would never have existed.
Michael J. Jackson. All Rights Reserved.
The Adobe Corporation graciously donated Adobe Acrobat 3.0 and made the publication of this paper possible. Thank you, Adobe! All rights reserved. No part of this publication or the whole thereof may be reproduced, stored in a retrieval system, or transmitted, in any form or by any means, electronic, mechanical, photocopying, recording or otherwise, without the prior permission of the copyright owner. For information address: WarpSite Web Publishing; Post Office Box 16143; Augusta, GA 30919-2143 First MELAS Online Network PDF Publication November, 1997 First Michael J. Jackson PDF Publication March, 2000 Published in the United States of America This material was created, (and/or) assembled and edited by Michael J. Jackson And is available in PDF format at the following URL: Copyright 1997 2000 Michael J. Jackson - All Rights Reserved MELAS: Mitochondrial Myopathy, Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes -or- Mitochondrial Encephalomyopathy, Lactic Acidosis, and
This is Mike, Karen's husband. A good deal of this history is based on a medicalhistory of Karen done at Emory University's Neuropsych Unit in Atlanta, GA. I wasinterviewed, and my account recorded for use in Karen's treatment. I have nevermet such a dedicated, caring and professional team of psychiatrists andpsychologists in the time before or during the ten-year period of Karen's illness, orto the present day as the marvelous team at Emory's Neuropsych Unit. Thank you,Folks! (And Mike still has the bear with the Indian name <smile>). This publicationwill carry the history to the present.
Karen was born in 1956 by NVD with out complications. Her childhood medical andneuropsychiatric histories are unremarkable except for a possible undocumentedhearing deficit. According to Karen, her mother complained often about having toalways call for her twice before she would turn. Karen experienced brief andinfrequent blackout spells while she was in college, although it is unclear whether ornot they were seizures. We met at college in 1975.
I didn't recognize any medical or neuropsychological problems until three yearsafter we were married in 1977, which was in 1980 when Karen began to complain offatigue, but I do recall Karen as being always poorly coordinated on her feet.
During the 1980-81 school year Karen would come home from her day of teachingschool increasingly exhausted, which was unusual since she had always beenenergetic. Also that year she developed momentary episodes of visual problems.
Bilaterally her visual fields would fill with black spots. At first this was justbothersome, but in time the episodes progressed to "brown outs" with some mildaccompanying dizziness and vertigo. Within a year after the initial episodes ofvisual problems, the episodes progressed to grand mal seizures. They appeared assudden onset "black spots" that increase in size and number until Karen's entirevisual field would go black. Then she would grow dizzy and have a seizure. Theaura of black spots would continue to precede her seizures for the years to come.
From 1981 to 1984 Karen exhibited no obvious intellectual or memory problems.
She was "normal" except for a mild to moderate hearing deficit which may havebeen progressively getting worse; weakness and increasing ataxia; and a seizuredisorder that was difficult to control. I didn't notice any behavioral or personalitychanges, although I'll admit that she was perhaps a bit more irritable during thisperiod.
This material was created, (and/or) assembled and edited by Michael J. Jackson And is available in PDF format at the following URL: Copyright 1997 2000 Michael J. Jackson - All Rights Reserved MELAS: Mitochondrial Myopathy, Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes -or- Mitochondrial Encephalomyopathy, Lactic Acidosis, and
Control of Karen's seizures was originally tried with Dilantin. Over time shedeveloped increasing weakness, ataxia and severe confusion accompanied withhallucinations. Initially there was some question as to whether this was theprogression of her disorder or a side effect of her Dilantin, since there did seem tobe a relationship between the Dilantin and these symptoms. Karen also began todevelop bizarre delusions that progressed to hallucinosis. These experiencesincluded depersonalization, out of body experiences and paranoia.
For example, while in the hospital Karen became horrified by her I.V. because shewas convinced that every patient was connected to the same I.V. and that tubing"was everywhere." During another severe delusional episode Karen could not drinkfrom a soda bottle because she thought it was part of her. These symptoms ceasedwith discontinuation of Dilantin. Tegretol was used next, but similar problems withweakness, atoxia, confusion and later hallucinosis developed. In addition, shebecame leukopenic. Phenobarbital was next used with good control even though attimes fairly heavy, sedating doses were necessary to prevent seizures.
In 1978 Karen developed hepatitis (caught from a Sunday school student whocontaminated the ladies room. Six church ladies got it).
From 1984 to 1986 no seizures were witnessed. Still didn't notice any behavioral orpersonality changes. As to the question of a progressive dementia, I don't recallany significant change in cognitive function or memory, although her energy leveland strength did drop off slightly during this period. Forgetfulness regarding thelocation of household objects may have increased.
The year 1987 was marked by a dramatic increase in Karen's seizure activity. Shehad severe recurrences of status epileptius, being left comatose after the third timefor three to four weeks. (From this point on, with my son at around ten months old, Iwas functionally a single parent. This really complicated caring for Karen in herrapidly degrading condition.) Karen never fully recovered from this coma. Prior to the onset of coma, there was astep-wise decline in cognitive function and personality with each episode of statusepileptius. Waking up shortly after the first two episodes, her ability to follow anormal conversation, to understand formal language and multi-part tasks haddecreased. Karen's memory also suffered so that she needed more constantreminding. With regard to personality, Karen began to intermittently lose her abilityto focus on others. She was often unable to understand what I was feeling, and sheoften had difficulty sympathizing and empathizing with others while she becameincreasingly more "lost" within her own world. She became unable to performchildcare responsibilities associated with our infant son.
This material was created, (and/or) assembled and edited by Michael J. Jackson And is available in PDF format at the following URL: Copyright 1997 2000 Michael J. Jackson - All Rights Reserved MELAS: Mitochondrial Myopathy, Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes -or- Mitochondrial Encephalomyopathy, Lactic Acidosis, and
Following the third episode of status with coma, Karen was very slow to recovereven basic functions. It took eight months for her to be able to rejoin us at home.
Her ability to walk varied and she often remained confined to her wheelchair.
Significant global muscle atrophy left her increasingly weak and debilitated. Duringthis recovery process Karen may have been slightly depressed. While she retainedmuch of her sense of humor during this period, her affect was occasionallyinappropriate. Unfortunately, the same was not true of her cognitive functions.
Again, a large step-wise reduction in abilities occurred during this period.
Karen was now totally dependent upon the care of others, and myself, and she lostany sense of what was going on in the world around her. When asked a directquestion, she would answer "indefinitely," speaking very loosely until broken-off orleft alone.
Following the coma Karen began to experience marked mood swings. Thesebehavioral changes began while she was hospitalized at the Medical College ofGeorgia and continued throughout her nursing home stay and after returning home.
Up until this time her only personality/behavioral changes had been socialwithdrawal and loss of understanding the outside world. The outgoing, extroverted,giving personality had become selfish, introverted, and unable to comprehend theneeds of others. Her mood swings included a whole new area of difficulty.
Karen's mood could vary from day to day as could "Dr. Jekyll and Mr. Hyde." Somedays she would act like an angry, spoiled, and selfish child. At first this would notlast more than a day and would be characterized as being demanding and verballyabusive. Then the change became more frequent and lasting days, often ending inhospitalization secondary to violent uncontrollable behavior. A typical severe moodswing would begin with agitation and defiance. Karen would be verbally abusiveand threatening to me.
For example, she would threaten to have the state take our son away from me. Shewould also adamantly refuse to eat or drink. Nausea and vomiting could also occurwith a higher level of agitation. The episodes of vomiting increased in frequencyand severity; and were usually accompanied by severe headaches. Within one ortwo days she would become increasingly irritable and confused, perhaps related tothe dehydration. She would become completely unreasonable, often screamingincoherently.
Finally her condition would deteriorate to hysteria and violence against anyone oranything, thus requiring restraint and hospitalization. After hospitalization, usuallywithin a 24 hour period, she could be "herself" again.
This material was created, (and/or) assembled and edited by Michael J. Jackson And is available in PDF format at the following URL: Copyright 1997 2000 Michael J. Jackson - All Rights Reserved MELAS: Mitochondrial Myopathy, Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes -or- Mitochondrial Encephalomyopathy, Lactic Acidosis, and
These mood swings made her management at home increasingly difficult andstressful. Karen was hospitalized in the Neuropsychiatric Unit at the Wesley WoodsHospital in Atlanta, Georgia from 4/25-5/3/89. Observations during Karen'shospitalization revealed that the agitation and defiance stage lasts for longer andlonger periods of time, occasionally for more than ten days, with only brief (<20hours) respites every five days or so.
Karen's condition was complicated by "stroke-like episodes." In February 1988,Karen suffered a sudden drop in visual activity bilaterally throughout her visualfields. Karen went rapidly downhill after this admission. Karen also had severalepisodes of unilateral weakness; numbness and tingling lasting only hours withseemingly full recovery. These later episodes were not clinically documented, adisappointment since this would probably have added to the knowledge gained fromKaren's bout with the MELAS Syndrome.
Our son was born in 1987, the same year that Karen was finally diagnosed with theMELAS Syndrome. From the time that Mike was ten months old and on, Karen wasunable to care for him. Karen spent most of 1988 in a coma and recovering from it.
1989 was spent at home with us, with several visits a week from a local homenursing program.
I had to quit working for six months in order to get our resources low enough toqualify Karen for SSI (disability, she didn't qualify for SS). Karen was runningmedical bills in the neighborhood of $100,000.00 to $200,000.00 per year by thistime. We used Welfare and the SSI for expenses. Medicaid and the State (GA)picked up the tab for Karen's medical bills. Kept trying to build a business in orderto stay self-employed. Thought that it would be better for being a single parentlater. Turned out to be hard to do without any money to invest in it. (The thirdquarter of 1997 is the first in years when I've been able to pay our monthly bills ontime. Whew, long time. It'll be touch and go for a long time yet, though.) In 1990 Karen's violent spells became more frequent. I would wake up in the nightto find her beating the living daylights out of me. Had scars for a while. I began tobe afraid that Karen would unintentionally hurt our son, or worse, that I would looseit and swing back. Finally gave into the doctors, and had Karen placed in a nursingfacility (nice name for a nursing home). During 1990, Karen would mostly recognizeus, but not always. Sometimes she thought we were dead, sometimes that I haddied and our son had grown, gone to college and married. That year she wasn'tmuch more than 10 or eleven mentally. We would bring her home on weekends, orstay there with her all day. I would eat lunch with her during the week when I could.
1991 was worse. In those last three years, Karen let me hold her twice. Nicemoments, but the rest of that time, when she did recognize me, she would becomeextremely agitated and rant and threaten me for placing her in the home. She wasmostly out of it. She continued to deteriorate and lose body mass.
This material was created, (and/or) assembled and edited by Michael J. Jackson And is available in PDF format at the following URL: Copyright 1997 2000 Michael J. Jackson - All Rights Reserved MELAS: Mitochondrial Myopathy, Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes -or- Mitochondrial Encephalomyopathy, Lactic Acidosis, and
1992 was the last year that Karen was with us. Very little response to stimuli andshe didn't recognize anyone. On December 4th, Karen developed a high fever andwas gone in less than an hour. Eleven days later, we would have had our 15thwedding anniversary.
Most of what is going on with us now is available at the Jackson Family's Websiteon our personal pages.
This material was created, (and/or) assembled and edited by Michael J. Jackson And is available in PDF format at the following URL: Copyright 1997 2000 Michael J. Jackson - All Rights Reserved

Source: http://www.jfw-melas.net/downloads/melash20.pdf

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