Chronic Progressive External Ophthalmoplegia :: Genetic Testing?


May 21, 2013

My neuro ophthalmologist has ordered blood test for genetic testing and my insurance has finally approved it. I am wondering if anyone has had this test before. I don't know why he does not do a muscle biopsy instead but I don't really want one. He is pretty sure I have CPEO.

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Chronic Fatigue Syndrome :: Genetic Testing To Rule Out Causes Of Fatigue?

I am just wondering whether anyone has had genetic testing to rule out causes of fatigue? Myself and my brother both suffer with extreme tiredness and I'm wondering if it's worth asking for it to be investigated down the genetic route.

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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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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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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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Pregnancy :: Genetic Testing - How Long To Wait For Results?

I'm 39 years old and this is my third child I go tomorrow for my genetic testing at 12 weeks I was wondering if anyone else has had this done and how long before you got the results back

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Which Vitamins To Take For Progressive Multiple Sclerosis

First off my name's Katherine and my mother has Primary Progressive Multiple Sclerosis. and I'm here on her behalf. She's in a wheelchair and in a nursing home. She's of sound mind but here lately she seems to be getting a cold and fever every month or so. I know those with MS has very week immune systems and have a hard time fighting off simple colds . My question is what are some good vitamins to help her keep from getting sick as much?

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Perilymph Fistula - Progressive Hearing Loss

Though I am actually considering that I have something called basilar migraines, which in many ways can mimic fistulas, I want to make sure that there is no chance of small bilateral fistulas in my ears.

Essentially, I have had progressive hearing loss for 11 months now, along with a number of other symptoms that began to flare up in August. I have a history of 3 separate acoustic traumas that occurred earlier last year, and I have heard that under extraordinary circumstances acoustic traumas can cause fistulas at the oval window.

My triggers have included loudish noise above 80 decibels, middle ear pressure changes from flying on an airplane or wearing earplugs, strenuous exercise, lifting heavy objects, and clenching my teeth too hard at one point (I was angry).

Most times when I have an extended exposure to any of these factors, I am usually left with a small degree of permanent bilateral hearing loss. I am also often left with dizziness/imbalance symptoms, rocking boat vertigo, roaring or very high pitched tinnitus, parathesia in my hands and feet, pressure headaches that start at the temples and migrate to the sinuses, pressure behind my eyes and occasional aura, hyperacusis, middle ear myoclonus (muscle fluttering), feelings of cold liquid deep in my ears, and on a few occasions, a fuzzy lightheaded feeling that makes me feel I am going to pass out.
Many of these symptoms resolve, but some, like the vertigo and ear fullness, often stay around long term and present in daily episodes.

Do these sound like familiar symptoms to anyone who has (or has had) a PLF? Please do let me know of any similar experiences! Am on the verge of needing hearing aids, so I am trying to get to the root of the problem as soon as possible.

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Neurological Disorders :: Progressive Symptoms Of Numbness And Muscle Weakness

For the past 3 months I have had progressive symptoms of numbness and muscle weakness all over my body. It all started with sciatic pain that radiated down my legs and prevented me from sleeping. That went away. Then about a week later my hands and feet started to have a pins and needles and loss of sensation feeling. a week after that my neck became very stiff and sore. After that my muscles became very tight and inflexible. After that I developed a tremor in my hands when I go to do something requiring hand focus like writing pointing or typing. after that the loss of sensation in my feet progressed up my leg and now I have leg weakness which prevents me from running and jumping and my balance is very unsteady. lasty my face muscles are weak I cant fully smile or use my muscles and I cant raise my eyebrows at all Every week or so since i've had a new symptom. and I am very alarmed at this point . I don't have any diseases or conditions now im 23 in good shape work out.

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Will External Hemorrhoids Will Go Away On Their Own?

I've had external hemorrhoids for three weeks the doctor has prescribed anusol suppository and cream.

i got an infection and have nearly finished a course of flucloxacillin.

the doctor won't refer me despite asking twice.

will they eventually go on there own or will i be stuck feeling hideous for life.

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External Hemorrhoids Can Go Away Naturally?

I'm a 17 year old male who recently discovered he's had an external hemorrhoid.

Preface:

Two days ago I felt extremely uncomfortable walking around. After a sports practice, and before I stepped into the shower, I probed the rectal area with my hands - I was compelled to do so as it felt like I hadn't completely BM'd. I felt a large lump and attempted to push it around to no avail; it was probably the most shocking experience of the past 6 months. Fortunately, I consulted a friend of mine, who has had his fair share of struggles with diarrhea and such, learning that I have an external hemorrhoid.

Questions:

1) Does this condition go away naturally? It's been two days and I haven't given it "special" treatment minus the regular washing.

2) Is it supposed to hurt? The uneasiness was greatest the day after I discovered the lump and has somewhat subsided. I feel pressure pains regularly and sharp pains occasionally.

3) Is it harmful to attend sports practices during this time? Is it damaging to even walk?

4) Anything particular I need to know about this condition?

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External Hemorrhoids Without Pain - Possible?

...that are NOT painful AT ALL ???

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Hemorrhoids :: Internal Or External Symptoms?

I am a 28 year old male i have had digestive issues for years now that we are still working on treating

I definitely have hemorrhoids i'm just not sure if i have internal or external or maybe even both, at times i feel the bump outside but also at times i feel like my stool is being blocked and gas as well

i have started taking more fiber in and my moments are good and regular now but are very painful and i feel like i don't go completely the first time then each additional time i go its harder and harder to get the rest out and also it gets thinner in consistency

i really feel like a hemorrhoid is blocking my stool

i am going away for awhile and i can't get to a dr before hand so im just looking at advice on what i can try specifically for the problem of stool being blocked and dealing with potential internal hemorrhoids at home

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Hemorrhoids :: Bleeding External Piles

I am a 19 year old male that got my first serious hemorrhoid around a month ago, there was slight bleeding when using the toilet however apart from that with ointment and care the pain subsided.

However three days ago the pain returned as bad as it was last time, yesterday I began bleeding heavily (leaving one pair of underwear ruined) and subsequently I went to my local hospital who said I should see a consultant this morning.

I did that, and he was useless, however confirming it was an external hemorrhoid that had ruptured. I have been booked for a camera in 8 weeks time and his only advice was to change everything about my lifestyle (time to give up all indulgences yay).

It has not stopped bleeding, and even walking from my local supermarket left me having to wash my anus as well as changing my underwear again.

My question is, how long will it take for the bleeding to stop, and is there anything I can do to help stop the bleeding as in my current state I don't want to leave my bed let alone face the prospect of work. I live in the UK so luckily healthcare is free, however I am open to home remedies as well.

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Pregnancy :: Drug Testing

So I've been reading a lot of posts that say they've been drug tested while they've been pregnant? When exactly do they do that right before you give birth or right after?

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STDs :: Testing Periods

When is the best AND final time for testing with blood work. This is for all stds, there seems to be alot of confusion with the time testing that is why people in here have a hard time accepting their results even if it gives them an answer,  does it go by weeks? Months? 12weeks 16weeks 3months 6months or for a one time exposure so anything under this times are not the correct answers? Anything after the 12weeks period is a relief for finalized testing?  

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Labor :: Alcohol Testing

If I had 10 drinks 11 days ago how long before a peth test will be negative

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Hemorrhoids :: Had The PPH Stapling Surgery - Still Have External Piles?

They were massive, Dr said she could barely get them all inside the tube They use to do the stapling. The recovery was horrible, but i I am feeling better now. Still can't eat anything to Hardy just because out will make me bleed when it comes out.

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How To Differentiate Between External Or Internal Hemorrhoids (piles) ?

I've been having problems with hemorrhoids for many years now. Probably about 8 years or so (I am 27). It has gotten worse in the last 2-3 years I'd say. How do I tell if this is internal or external hemorrhoids?

I've read up on the symptoms and I'm not sure how to read this. For me, the flare up only occurs after a bowel movement. If i go to sleep right after, the hemorrhoids is always gone. Sometimes the hemorrhoids will go away on its own after a few hours on its own (how? i dont know).

All i know is that it never goes on for more than 1 day continuously because it always goes away when I go to sleep. Any idea which type I have? Its gotten to a point where I dread bowel movements because it makes walking difficult (unless I find a comfortable laying position where it will go away on its own). Hoping there is a way to make the hemorrhoids go away within an hour of the bowel movement.

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External Hemorrhoids :: THD, Sphincterotomy Of Fissure Experience

It's day eight after my procedures. I barely am feeling the slightest bit better. As the subject states I had THD, sphincterotomy For an anal fissure, and external hemorrhoids. Pain medications are my only relief at this point with a little sleep in between. Hey bowel movement consistent little bit of prep work. I was given 5% lidocaine ointment to put on before the bowel movement and for after. This is only a short time of relief. My prescriptions include hydrocodone, Nucynta, Valium, and Flomax. The first two for the pain, the Valium for the spasms in the rectum, and Flomax for the swollen prostate from the procedure. Even urinating is a difficult task. It seems like I can't do one without doing the other, Although this seems to be getting better so I do believe my prostate is beginning to shrink back to normal. In these eight days I've lost right at 14 pounds and I am eating very little every day. I am forcing myself to drink as much water as possible and I'm taking non laxative stool softeners twice per day. I can answer any question that you might have of me for more information. I'm just looking for someone else that's had similar recovery time and issues.

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