Genetic Disorders :: Metabolic Mitochondrial Myopathy


Jun 8, 2014

I was diagnosed w/ Metabolic mitochondrial myopathy over 10 years ago. Right now I am struggling with the worst illness I have ever had. Started about 5 weeks when I woke up I noticed every time I breath in it stinks. Since then I have gotten weaker and very sick. I have bouts of vomiting, diarrhea, constipation, my head feels full, burning pressure in my ears and sinuses. My shoulders hurt so it feels like my arms will fall off. I also am having problems with this weird pain in my back & stomach, it feels swelled and I feel raw all the way down to my bladder. At times it feels like burning raw sensation all over. My face feels numb and my left foot. I know this makes me sound crazy, it is making me crazy but I just can't seem to will myself to get better. Every day I wake up with some hope and it's the same thing every day. All I have had was a z pack of antibiotics witch seemed to help a tiny bit,(I am able to sit up a little longer)but I can't stop feeling horribly sick & weak.

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RA? Metabolic Myopathy

I have had so many tests done and so many different answers I'm at a loss and so are my Drs. I have tested positive for RA in the past year - now I don't. My hands are swollen and painful and I experience changes in pain and swelling with temperature. Tingling and numbness only in my right hand. Where it gets weird is that I am having serious continuous cramps in my right leg that prevent me from walking properly. My right leg is also now considerably smaller than my left leg. I feel like the leg is going to snap and I get numbness and tingling in my right foot. Massive pain. Potassium, calcium and every is normal. All my enzymes are always all over the place. Liver is usually high. Total ck after walking to one of my appts(half mile, right leg started cramping) was 2258. My condition gets worse with exercise, muscles burn. Dr did an emg, but the results were in no means definitive. Wants a muscle biopsy but I cannot afford it. Oh and total ck is not high at rest. Lactic acid is elevated, not very high. I don't know what to do. I am in so much pain. My joints hurt too. I got a shot of humira and it helped for about 3 days and then I all of a sudden got staph in my right elbow bursa so I had to stop it. I can't extend my leg at this point. Icy hot, salonpas, nothing helps. I am also experiencing fatigue and aches all over my body. What advice does anyone have? What do you think could be going on?

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Have Metabolic Myopathy

I have been dealing with this myopathy for over 11 years. I have had bad "flare ups" before, but right now I am so sick I am barely able to sit or stand. It all started when I woke up one morning and every time I would breathe everything stinks and it has been downhill from there. I feel sick and really weak. I have a lot of pressure in my head and ears. My shoulders hurt, my left foot goes numb and at times it feels like every nerve in my body is firing at the same time. But the worst part is the back and stomach pain, and I can't understand why. It is all on the left side and it really hurts, feels like my spleen is the size of a basketball and goes all the way to my bladder, have only had one episode of incontinence. I am so sick and so tired ...

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Heart :: Statin Induced Myopathy

Muscles in thighs, neck, face weakened as a result of taking statins. Can't do stairs, get up from a chair, get on a bus and the list goes on . Off the statin and hope that things will get back to near normal. If anyone is suffering from this drug, please share what is happening and what you are doing about it.

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Kidney Disease :: Metabolic Panel : Creatinine : 1.6

I just had my metabolic panel and here are my numbers:

Just wanted to check on if i am at a 1.6 creatinine level; is my kidney gone?

Creatinine - 1.6 (high)
Total Bilirubin - 1.3 (high)
Potassium - 3.5 (low)
Glom Filt Rate, EST - 51.4 (low)

History:
From 2008 to 2013 ( I was suffering from hypertension and was on blood pressure medication - my numbers between 2008 to 2013)
Old Weight -- 193 lbs
Old Blood pressure -- 145/90
Workout -- none

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Orlistat With Antidepressants - How To Boost My Metabolic Rate/weight Loss

Whilst taking orlistat, i am also taking anti depressants which is what made me put the weight on in the first place. My doctor said i would probably loose more weight if i wasn't on the anti dep. but i am not at a place where i can come off them at the moment.

What i wanted to ask you was if you could ask your nurse if there is anything i can do to boost my metabolic rate/weight loss.

Have you noticed more weight loss when eating certain foods. I was told whilst on slimming world that peas and strawberries are good weight loss foods. But i can't live on them.

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Endometriosis :: Could Be Genetic?

I been having all the symptoms of endo. The lower back pain, pelvic, stomach pain, bloating. I also have leg pain which im not sure is linked to endo but my pain is constant as i've had it non stop for a month now but feel worse when im on my period.

I have been to the doctors as he said it could be a possible ovarian cyst but he didn't really know so he is referring me for a ultrasound which wont be for a couple of weeks!! He did no other tests apart from a urine test (still waiting on results)

My mum has told me both my cousins have endo and im just wondering if its genetic?

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Constipation Due To Genetic Illness

Because of a genetic illness, I'm chronic constipated. (for 3 years)

Probably because of a coordination issue in my bowels and reduced muscle strength.

I take Molaxole every day but it's not enough, I often have to take 8 Molaxole-doses in 6 hours to empty my bowels.

Is there something else that can help me have a good bowel movement?

Is there something that improves the movement of the muscle tissue in my bowel wall?

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Eye Bags :: Run In Family - Genetic?

Seems like I have eye bags "running" in my family. My mom has them and she's been using numerous creams and potions and what-else to get rid of them but nothing seem to work properly. Is there something i can do to prevent them or I just have to get used to idea that i will be having eye bags?

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Pregnancy :: Genetic Testing?

I turned it down but I wanted to know if anyone else got it done...

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Leukemia :: Low WBC Count? Genetic?

My wife's past WBC count was always about 5. She just recently had a test and it is 3.7 and has been flagged as low on her health records (nurse didn't mention it but she has only seen her online records since speaking to the nurse).

Now she is worried because her father died of leukemia. Is this white blood cell count dangerously low or unlikely to be anything serious?

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Cystic Fibrosis :: Genetic And Inheritance

Can you tell me something about cystic fibrosis carriers for I am planning on getting pregnant but I am afraid that my baby could be born with cystic fibrosis for my mum has the illness and I know it is inherited and I know I am cystic fibrosis carrier. So do you think I should get pregnant with this cystic fibrosis carriers history and how could this possibly affect my baby health condition?

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Pregnancy :: Anyone Gotten A False Genetic Testing?

has anyone gotten a false genetic testing . They have told me my baby neck is 6mm away and it has to be 3mm . Has anyone gotten the same problem and later everything was fine ?

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Pregnancy :: How Accurate Is Genetic Testing?

How accurate are blood test

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Depression :: Is Bipolar Genetic Disorder?

I just wanted to know if Bipolar is genetic. My was recently told that my grandad is bipolar and wondered if I was to as I believe I have some sort of mental problem. I don't really know much about bipolar and be good to learn about it also, not just from reading books and websites but from people who actually experience it themselves or with other people.

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Are Brain Tumors Hereditary / Genetic?

Are brain tumors hereditary? My Dad my Brother and just now, my nephew died from one.

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Genetic Test To Find Antidepressant For Me?

I have been taking antidepressant for almost an year. I changed few brands, nothing was helpful for me.

Recently I learned that there is a genetic test for antidepressant. I wonder if I can order it by Internet. I live outside of US and here there is no chance to find one.

Do you know if it's possible to order genetic test kid by Internet?

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ADHD / ADD :: Genetic Testing For Meds?

I have a 10 year old son who is diagnosed with ADHD, Anxiety, SPD/IPD and rule out of Asperger's/PDD in 2013. Currently, we have him on Methylphenidate ER 30mg per day, but lately we have been noticing issues. Mind you, the school hasn't been very helpful this year with information on how he is doing so I can only go by the vague messages received... the first 6 months, they say he was great! Though I have documents to prove otherwise - lately though, the teacher keeps saying he lacks focus, needs to pay attention and all that jazz. (I say it so flippantly because this teacher has been a pain to work with.

I spoke with the doctor and she wants us to come in next week to discuss his meds, but we have had issues with additives in the past and it's not a route I want to go... to sit and wait. His diet is modified already, we also work with a behavioral therapist and a chiropractic neurologist and he takes Taekwondo.

With all this, I'm wondering if anyone has tried the genetic testing (IE: HarmonyX or Genesight) to see what meds would work best with his specific genetic makeup?

I read all these stories of parents having all these issues and suddenly their kids are on Vyvanse or something else and it's a miracle.  I wouldn't mind that... him being able to function better at school (academically and socially) ... he gets bullied (though he can start it up too) - I just wonder, what next?

Here is his medication history:

August 2011 – Vyvanse ??mg (very small amount)
September 2011 – Vyvanse 30mg (adjusted to 30 mg)
May 2012 – Trial samples of Intuniv w/ Vyvanse for two weeks. After two weeks he was out of         school and parents decided not to continue the Intuniv.

September 2013 – Intuniv 2mg w/ Vyvanse
September 2013 – Concerta 36mg (removed from Vyvanse and Intuniv because he became over-emotional and violent/aggressive)

December 2013 -  Concerta 54mg (Dr. Snyder prescribed)

March 2014 – Methylphenidate 10mg (3 times a day) (March 7th thru March 14th)
Methylphenidate 15mg (3 times a day) (started March 15th)
April 2014 – Methylphenidate 20mg (3 times a day) (started April 14th)
May 2015 – Adderall (adderall) 10mg (3 times a day) (started May 14th)
June 2015 – Adderall (adderall) 15mg (3 times a day) (started June 3rd)
August 2015 – Guanfacine 1/2mg (3 times a day) (started August 21st)

September 2015 – Methylphenidate ER 30mg (once a day) (started September 6th)

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How Can I Prevent / Avoid Genetic Alzheimer's?

I am told by a cousin that it is "in our genes" My dad had it and now my aunt has it both on father's side.

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Pregnancy :: Cystic Fibrosis - A Genetic Disorder?

I`m pregnant and the problem occurred when I found out that I got cystic fibrosis. I know it`s a genetic disease. I fear for my baby. Is there anybody with experience who could tell me something about that? How is CF inherited?

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Genetic Disorder? Cannot Walk For Long Distances

I am asking on behalf of my friend's child. Her child cannot walk for long distances, and needs a foot brace. I think there is discomfort at his talus(?). I'm not very sure about the details.

Her in-laws have had this genetic disease passed down to every male in the family, I believe. It is really saddening, as my friend's two sons both have this disease. What kind of disease is this? I do not have details, so I'm up for suggestions. Thanks!

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