Introduce yourself

Hi Im Jennifer and im new here, i have 5 kids two have mito along with the problems that come with it and autism they are 8yrs and 3yrs old. My other kids are pretty healthy so far , we live in IN and hope to gain info and strength here thanks
jennifer

Rowland in Somerset, UK
Hi, I'm Rowland known here as Rowly. I was diagnosed as having Kearns Sayre Syndrome in 1999 by a local neurologist subsequent to a muscle biopsy. This was later confirmed by mito specialists in Newcastle in the north of England. Born in 1964, I was slightly asthmatic in my early years. By teen age I was somewhat self conscious of lack of muscle and athletic ability which I put down to my family not being sports oriented - I just needed to try harder. I guess investigations began with my left eye ptosis when I was around 16. At that time investigations were carried out by my local eye hospital and nothing conclusive found re cause or treatment.

In 1989 at the age of 25 the local eye docs performed a resection of my now very obvious ptosis of the left eye. Later this proved to be a bad idea with ensuing eye infections, corneal lesions, dry eyes etc but at that time they didn't know anything about mito and its effects. The procedure was under general anaesthetic and they also took a huge piece of muscle from my right thigh for investigation. I don't know what they were looking for and gather again that results were inconclusive.

In 1994, aged 30 I left my job to attend University after gaining a place to study computer science (I'd dropped out of secondary school or high school if you prefer, as I didn't know what to do, and I was busy riding motorcycles, driving cars, chasing girls and dj-ing - I make this sound much more exciting than it was). However the change in lifestyle and the stress took its toll, I was walking more than previously for one thing and I soon had to drop out of my course as my body wasn't behaving and my mind wasn't either. I was depressed and it took a long while to recover, get back to working life. With hindsight most of the problems were mito related, but then I thought it was me and my attitude and that I had to try harder (there's a theme there?)

Thereafter all the little symptoms became worse, the vision, the ptosis, by now I had right eye ptosis, generally I was weaker and more unstable when walking, gastric reflux and numerous other 'little' things.

My father, at the age of 84 in 1998 had developed Myasthenia Gravis. I took him to a meeting of folk with Myasthenia and everyone there thought I had it too just by looking at me with my build and ptosis. In previous years I had undertaken the Tensilon test for MG, which did nothing therefore ruling it out. However it seemed sensible to pursue the line of enquiry. So this led to arranging a neurology consult and my diagnosis.

In November 1998 my local neurologist took a biopsy from my left shoulder under local anaesthetic, very quick and painless. He was extremely pleased with himself when he delivered a conclusive diagnosis of Kearns Sayre Syndrome (KSS) in our meeting in January 1999. He pretty much washed his hands of me then, sending me to the hospital library for information on the condition. There was none.

On 'Googling' the condition I think I got two links (things have changed a lot since then thank goodness). I soon found help and information via some yahoo groups. Thanks in particular to Jean Shepherd and others I found Prof D Turnbull in Newcastle, in the North East of England, some distance from me. Journeying there in 2001 and again in 2002 he confirmed my diagnosis with more extensive tests, further biopsies, MRI, EEG, ECG and various others. It was good to have contact (face to face) with someone who knew what they were talking about. It wasn't just in my head, I wasn't making it up.

I guess then, one could say that it took 20 years for me to get my diagnosis, but things weren't so obvious originally and I don't think anyone knew of mitochondrial disease way back then. Such is the nature of some mitochondrial diseases.

I was finding regular office work difficult to continue by the beginning of 2001 and stopped. I'd had a major crash after moving some furniture and carpets one weekend and was laid out for days. I left my job and opted to look after Mum (then 81) and Dad. We lost Mum in February 2002 to dementia amongst other things, and Dad died the following year succumbing to prostate cancer. Caring takes a lot out of anyone, and of course losing your loved ones also. There's a whole chapter I could write on grief but that's for another place. The mito doesn't help and then for me, disagreements with my three elder sisters over my father's estate (where I was living) also affected my health. I was forced to sell the family home which ultimately was a good move but the circumstances weren't desirable.

My symptoms have progressed quite a bit since diagnosis and I am considerably weaker and certainly feel more fragile than I ever did before. I lead a sedentary lifestyle which can't help of course but so far don't suffer any pains as many other mito folk do. I've been in my new low maintenance home for 3 years now and am trying to plan a new life. Basically though I have let the mito take control and just put things off.

Under the circumstances I think I am pretty lucky. Nuff Sed.

In the meantime visit my site http://mito-matters.net/ and its forum http://forum.mito-matters.net/ the old site http://www.mito-matters.org.uk/ will soon be replaced by those two. All sites are non-professional and works in progress. Please join/comment where appropriate.

Nice to meet you guys. I'm Courey. I have two children. My youngest has complex III.

Courey mom to Aniyah, 4.5 and Linden, 20 mos. Linden has Mito complex III deficiency with slight deficiencies in complexes I and II. He is o2 and tube dependant.

www.lindenberriesandrosebuds.blogspot.com

Hello to all in Mitovia ...

My name is Wendy Helmka, I'm the co-chair of Adult Advocacy at MitoAction since the fall of 2007 ... I have a long complicated history ... but I'll try to make it simple. I live in Cedar Michigan near Traverse City in Northwestern Lower Michigan and I suffer from Complex IV, COX, with Leukodystrophy.

In 2002 I had a year of seemingly unrelated symptoms that escalated into complete atrophy after suffering a bout of pneumonia ... after that in June, I cycled with bouts of complete atrophy to moderate quadrepresis ... I took a short-term disability from my occupation, until I suffered severe dementia the first of October, the more I did the worse I got ... at the time I was 37 yo. I was a director of a Physical Therapy clinic with 27 employees, and was previously very healthy... my onset was very sudden and catastrophic .... I have not ever returned to work, I am currently on disability and social security.

After a two months in the hospital an MRI determined I had bilateral symmetrical Leukodystrophy and I was Airlifted to Cleveland Clinic in Ohio 8 hours away from my home town. I had a major work-up for many disorders that may contribute to my symptomology and after nearly another month in the hospital I was discharged home to the care of my family with complete amnesia and severe dementia. By December 10th of 2002 my amnesia lifted ... because my family withdrew all of my medications for symptom management and I gradually improved ... I was not expected to recover/live.

I went back to Cleveland January 2002 and followed up with 6 of the 9 original physicians (Neurologists and Psychiatrists) who had seen me and I consulted with a new team of Metabolic Specialist/Child Neurologists ... it was still not clear what was wrong with me but several things were ruled out as they did not expect me to get better ... because my dementia was improving they transfered my care from Adult Neurology to Child Neurology/Biochemistry Specialist.

I returned to Cleveland in February 2003 and it was decided to treat me 'empirically' for a Mitochondrial disorder undiagnosed ... my diagnosis at the time was Leukodystrophy NOS. I have a very loving and compassionate primary care physician in my hometown who helps coordinate my care with the CCF specialists, I have quite the following at CCF. They have written case studies and I see several specialist there.

In 2004 I was studied for Inborn Error of Metabolism at the National Institute of Health, Human Genome Research Institute for Rare and Undiagnosed Disorders to rule out many forms of Leukodystrophy ... no formal diagnosis was found at that time.

From 2003-2005 I spent most of my time in Rehabilitation, with Speech Therapy, Neuropsychology, Physical Therapy and general conditioning. I made very, very slow progress. My symptoms were very severe with weakness, fatigue, poor memory and concentration, little to no executive function ability, situational depression, severe headaches, photophobia, severe insomnia, intention tremor and a variety of other symptoms. Prior to my sudden onset illness I was a very accomplished athlete.

In the early winter of 2006 I had a recurrence of severe loss of left shoulder function because of severe Rotator Cuff injury from my past. With significant consultation of Physician specialists at Cleveland Clinic we decided to take the anesthesia risk to fix my Rotator Cuff problem and have a diagnostic muscle biopsy at the same time. So in 2006 I had the surgery at CCF and the CIDEM Lab did my muscle biopsy. I was officially diagnosed with Mitochondrial Disease COX complex IV deficiency. I have since had a mtDNA full Genome scan to confirm. I also have another very novel deficiency not seen in any other person tested at that lab ... not certain if it is contributory ... time will tell as more people are tested and screened. So this is my history.

I have two teenagers and a husband that is learning to understand the complexity of Mito and it's lifelong impact on individuals and their families. My husband and I successfully survived marriage counseling in the past year and we are helping our son a 2008 high school graduate attend Embry-Riddle Aeronautical University in Daytona Beach Florida. He is in Navy ROTC and is majoring in Aerospace Engineering. Our daughter is a junior in high school and is active in cross country, choir and track.

I'm very passionate about ADVOCACY and what we can do now to improve the lives of people with Mito, their families and those seeking diagnosis ...

You may see more of my story and my family at my web page:

http://web.mac.com/whelmka/

my email is:

whelmka@mac.com

Hi, my name is Lori,I live in Massachussetts and am 47 I was diagnosed with complex 1 defect in June 2005 this came after years of chasing symptoms. I had muscle pain/weakness, GI. problems,motility,and fatigue. sometimes I just can't keep my head up or eyes open. Lots of times this just hits me head on.but mostly undiagnosed pain so bad that at times just being touched is painful. This all began not long after my battle with an arterial venous malformation in the brain.

I had my first stroke at the age of 17 after the malformation bled I had 3 more strokes(hemhorrage) after that. The A.V.M. was finally removed on 1/14/93  I am as a result of the strokes hemiplegic. No sooner did I win that battle did I begin my new battle, and I will win this new battle too, which seems a lot tougher than the first war. Thanks to the grace of God I have a loving husband & son to help me through, also 2 loving dogs one is a brand new puppy(not made in China) we decided to name Mito, we wanted to put a brighter face to the term Mito,plus with the unusual name people ask quite frequently about the name. This gives us a great opportunity to pass along information. and she has brought us lots of smiles:) except when we're cleaning the floor after her. Then I yell Mitochondria!:) Though somedays are really tough,, I am always looking forward to Mondays as I do Therapeutic horseback riding I just love the horses they are a comfort to my muscles and a great uplift in spirit. The horses are so intune with you. these gentle giants cary you on their back to give you the normalcy you do not have on the ground.  Always keep on smiling is my motto.I am a new blogger ?, so I hope I keep up with all of you.....Lori:)

Hi Sarah

Sorry if it's taken me awhile to get  back to you, i'm new at this forum thing, I couldn't find were I was? hippo therapy is wonderful;I get such terrible pain, and when I ride I get relief, it stretches the muscles,but it also a great confidence builder, I strongly recomend it. the horses are so great. I've seen little kids who couldn't walk at first. Start walking.

I'd enjoy discusing or helping you in any way I can. Any thing I can do to help you. Please let me know  If you are looking for relief from pain, I also use heat or meditation, the unfortunate thing is the relief doesn't last long, and as you know, fatigue comes easy. I also teach ccd., which gets my mind off of things for a little while, plus try to keep smiling:)

Hippo therapy involves both horse and physical therapist. I do what is called therapeutic riding.

NARHA North American riding for the handicapped association. they do have a website.

they certify riding centers. Their website shows different states and lists some of the centers in that state. There may also be other centers that are not listed. Any good stretching excercise helps to some degree to relieve soreness, but it also only lasts for awhile.they say evryone is different even though they may have the same complex defect  I know sometimes I even hurt to the touch................... good luck..hope to hear from you.

Hi Sarah

Sorry if it's taken me awhile to get  back to you, i'm new at this forum thing, I couldn't find were I was? hippo therapy is wonderful;I get such terrible pain, and when I ride I get relief, it stretches the muscles,but it also a great confidence builder, I strongly recomend it. the horses are so great. I've seen little kids who couldn't walk at first. Start walking.

I'd enjoy discusing or helping you in any way I can. Any thing I can do to help you. Please let me know  If you are looking for relief from pain, I also use heat or meditation, the unfortunate thing is the relief doesn't last long, and as you know, fatigue comes easy. I also teach ccd., which gets my mind off of things for a little while, plus try to keep smiling:)

Hippo therapy involves both horse and physical therapist. I do what is called therapeutic riding.

NARHA North American riding for the handicapped association. they do have a website.

they certify riding centers. Their website shows different states and lists some of the centers in that state. There may also be other centers that are not listed. Any good stretching excercise helps to some degree to relieve soreness, but it also only lasts for awhile.they say evryone is different even though they may have the same complex defect  I know sometimes I even hurt to the touch................... good luck..hope to hear from you.

Hi, I'm new here. My name is Sarah from PA, I'm 27 and I have Complex I with Secondary Carnitine Deficiency. Childhood onset.  There were developmental delays, fatigue, pain as a young child. Back then doctors didn't know about mito, of course many still don't. So they called me "accident prone", said it was all in my head. I had to become very good at appearing normal.  My late teens/early adult years were very difficult. I attended 3 years of college, because that is what was expected of me and it was what i wanted. But my health was getting worse and i was getting no answers as to why. I didn't know it then, but i have Postural Orthostatic Tachychardia Syndrome (POTS), it made walking even standing for more than a few minutes difficult. Couldn't work and eventually had to drop out of school.  I had a muscle biopsy done at age 20, the summer of 2002. It was a difficult recovery for me. Between that and the POTS, i went from walking (though barely) to unable to walk in a matter of 2 months. I spent years looking for a diagnosis locally and was finally seen by a neurologist with the MDA clinic. She new immediately that it was mito. Since then i'v been everywhere looking for answers and help. Mayo Clinic, Cleveland Clinic, Bethesda MD, Atlanta GA. A muscle biopsy made the diagnosis and 3 years later a skin enzyme test confirmed it. Now, at 27, I'm practically bedbound. I have a power wheelchair, but it is too small and lacks the functions that my condition requires. So, I can only sit in it long enough to use the bathroom. Working on getting a new one, but you know how that goes! I'm confined to this bed all day everyday untill i can get a new chair. Only time I leave this room is by ambulance to the hospital. I live in my mother's house. She is my sole caretaker, my only real advocate, and honestly my hero. I have two Chihuahuas. Nettie and Stella. They are my constant companions and their small size (the smallest is 3 lbs) makes it possible for me to lift and hold them. Small dogs- big charachters! When I'm able, I like to draw and i've been writing for years. I'd like to put together a book to be published. I keep a lot of penpals. I'm addicted to Sudoku puzzles, a movie buff, and I read a lot. Most of my time is consumed by a complex medical schedule. I take many meds and run several IV's every day. I fight everyday to stay a live and to stay positive. I have hope for a better future. I've been doing research and started a few natural medicines that have had a huge, positive, impact on my quality of life. I would be glad to share info about these treatments. I have Renal Tubular Acidosis (RTA). I'm having great difficulty maintainning my Potassium and Magnesium levels (which are necessary for cardiac funtion). Magnesium especially, currently. I require many pills and daily IV forms of both. The problem is IV therapy makes me gain weight. Third Spacing maybe? When on TPN for 3 months, I gained 20lbs. Stopped the TPN, because of staff infection, and I lost those 20 lbs in 3 weeks! I've been on IV's to treat the RTA for 3-4 years and I have gained 70 lbs.! And still gaining. It isn't pitting edema, but I gain weight everywhere. I'm extremely sodium sensitive. And sodium makes me gain more. I struggle to stay hydrated and to keep my electrolytes in balance. It is as if the fluid isn't staying where it is supposed to, in my vascular system, but leaking out and causing me to gain weight. I can't see putting an end to the weight gain unless I can get off of these IV's. But i can't get off the IV's unless I can restore my Magnesium & Potassium levels. I wonder if it isn't something other than RTA causing these loses. Like intestinal absorption or something. Maybe someone has experience with RTA, or Magnesium/potassium issues and offer help? I'm also looking to see if other Mito patients gain weight with IV's and what can be done about it? I'd appreciate insight. I'm pretty desperate. Sarah B