Just Diagnosed

[Clashboy]

Dear Fellow Mitochondrial Myopathy Champions,

I have just been diagnosed via a muscle biopsy by a very proficient neuromuscular physician. At the time of my diagnosis, he told me that I had Mitochondrial Myopathy and indications of muscle wasting. He indicated he was sending my biopsy off to Buffalo, NY for further testing, stating it would be "subtyped." This would take six weeks. After that he was very vague and said he would let me know once the results came back.
In reading this forum I am amazed on how many of folks have the same symptoms. It makes me feel sane again.
My symptoms are extreme fatigue, excruciating pain in the legs and in my "pits" (armpits, knee pits, etc.), fasiculations, foggy thinking.
I have had this for 20 years and was diagnosed with Chronic Fatigue and Fibromyalgia which now they say I do not have, instead, the Doc says my symptoms are from the Mitochondrial Myopathy. I also have something called Monoclonal Gammopathy.
I have been out of work for almost a year now and was hoping that some good soul in the group could give me some guidance and advice on how to get my Social Security Disability now that I have a diagnosis of Mitochondrial Myopathy. I would be most appreciative as this last year has been hell for me. God Bless and Thanks.

[Prop1]

Welcome to the club!

Doesn't take much to get SSDI if you have a muscle disease. Mine was approved in 30 days without a clear dx. The main thing is to put the emphasis on the effect its had on your daily living, not on the diagnosis. SS now has a Compassionate Allowance program that has flagged many diseases for fast track approval. Although mito isn't specifically mentioned, it's worth mentioning the program. Getting yourself connected to the MDA will also go along way.

[Clashboy]

Thank you Brad,
When you mentioned getting in touch with MDA - in what way can I best get their help on this matter?

[Prop1]

Thank you Brad,
When you mentioned getting in touch with MDA - in what way can I best get their help on this matter?

I had my PCP do a referral. When you make an appointment with their clinic in your area, they will put you in their system. This will give you access to all the benefits they provide. They will also work with all of your doctors.

[Kira]

Sorry to hear you have mito. It is a hard dx to hear.

Do you have a metabolic genetics doc, or just neuromuscular? Some neuromuscular docs are exceptions and really know their mito, but in general the metabolic genetics folks really know a lot more about it since their entire specialty is metabolic disorders. I have found that the people at the metabolic genetics clinic are much better at managing my mito, knowing about other potential complications BESIDES the muscle stuff, and managing my exacerbations when I am sick & in the hospital. These clinics are usually University and/or Children's hospitals... it is a pediatric sub-specialty but they do see adult patients if they have metabolic disorders. There are also a few clinics specifically for mito, if you are lucky enough to live near one or are able to travel (and your insurance is willing to cover it).

One thing to know about mito is that it is very different for everybody, and just because you have a mito dx it doesn't necessarily mean that you will get as sick as other people with mito. There is huge variation, ranging from infants/children who are severely ill to family members who carry mutations but have minimal symptoms. Now that they have better testing, people with milder forms of mito are getting dx'd, rather than just people with severe cases. For instance... my mom & I have the same mutation, and she technically has "mito" because she has elevated CPKs & muscle pain & a known mito mutation. But her symptoms are not severe & she would never have even known she had "mito" until I got dx'd and they looked for my mutation in family members as part of a study. So... while she has "mito," she does not have the severe disease you think of when you picture a critically ill "mito kid." Even in my case -- I have pretty bad mito and a lot of organ system involvement -- but I was relatively okay for 20+ years before I got sick enough to seek medical help for it. Although it has progressed in the past few years, I am still definitely not as sick as others I know with mito. So it REALLY varies.

My point is not to say that your symptoms aren't bad, or that you aren't going through a lot... just to say that the dx of mito doesn't have to mean a death sentence or even that you will get any worse than you already are.

Sorry that I can't help with the SSDI/SSI & MDA issues. I am on disability but only get benefits currently from my private disability insurance since I am in this weird catch-22 situation where I don't have enough work credits for SSDI and yet I make too much (from my disability insurance) to qualify for SSI. I am looking into getting legal help with this because I don't know what I will do without Medicare/Medicaid when my COBRA runs out (might do HIRSP... otherwise won't be able to afford private insurance). It is not because I don't qualify medically... have a clearly confirmed mito dx and multi-organ system issues.

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Brad, what benefits do you get from the MDA? I haven't gotten anything from them. My neuromuscular doc IS at an MDA clinic, and I do have a very clearly confirmed Dx.

[Prop1]

Brad, what benefits do you get from the MDA? I haven't gotten anything from them. My neuromuscular doc IS at an MDA clinic, and I do have a very clearly confirmed Dx.

There web site has a pretty good list of what they can do for a person. The one big thing they helped me with was getting a mobility scooter. They also have support groups, reduced and even free doctor visits and tests. You really have to ask for help to find what they can do for you. Your doctor maybe at an MDA clinic, but that doesn't mean you're in the system as an MDA patient. You have to sign up to access all that they can do for you.

[Clashboy]

Dear Kira
I have been out of work for a year and they previously thought I only had Chronic Fatigue Syndrome and Fibromyalgia before they discovered the Mito through a muscle biopsy. In fact I have been sick for 20 years on and off and no one though to check for Mito until I have other symptoms. They know have have organ involvement with my lungs and liver and I was wondering if you know of a Metabolic Genetics clinic that I may contact that may be able to tell me of a Metabolics Genetics Doc near me? I live in Colorado Springs, Colorado.

[Kira]

I would check at the nearest University/teaching hospital (one affiliated with a med school), Children's hospital, or other hospital/clinic of that caliber. Look for the genetics clinic (it is a pediatric specialty) and then call to see if they have any doctors/clinics focused on metabolic disorders. Even though it is a pediatric specialty, many of them will see adults with metabolic disorders... but ask.

I am in Wisconsin and I am sure that is too far away for you :) But I do have a good metabolic genetics doc...

There are only a few clinics that focus specifically on mito in the whole country. The ones I know of are in California, Boston, Cleveland, Atlanta, and NY. There may be others but I am not sure. BUT... if you get a good metabolic doc (some neuros are good at this too)... then they will know about mito, it just won't be the ONLY thing they specialize in.

Many mito patients, especially those of us with relatively severe involvement, invest the time/money to travel to one of the mito specialists for a consult at some point... but mainly see a doc closer to home for the more routine management of our disease. You don't have to do this, especially if you find someone good close to home, but it is an option.

Like Brad said, you might also want to see if there are any MDA clinics near you. Those tend to be neuromuscular docs and focus more on your myopathy issues (vs all of the organ systems affected, if you have them)... I have heard some people having success with the MDA clinic neuro/neuromuscular docs for their mito (Brad likes his).

I personally had to see metabolic genetics before anyone put the pieces together... I had been to 3 neuromuscular docs, all at MDA clinics at major teaching hospitals, before I got in to see the metabolic folks, who literally saved my life. There are others who can honestly say that their particular neuromuscular doc saved their life, etc, so it is somewhat individual. Some of it is a "gut" thing... how well your own doctors seem to "get it," etc...

I know there is a great Children's hospital in Denver, but I don't know how far away that is for you. Now that I have my dx, I only see the metabolic folks about every 6 mos unless I am sick/hospitalized, so it wouldn't be the end of the world to have to drive a little to get there, as long as it's not too far.

One thing to consider is that it is a major plus to have a metabolic doc that is on staff at whatever hospital you are admitted to if/when you have serious mito flares. The ER & inpatient folks often don't know much of anything about mito, and it really helps to have a metabolic doc at the same hospital that they can call with questions and who can come by for consults, write orders, etc. However, even if your metabolic/mito doc is out of town, they can still write you an "ER Protocol"/"Hospital Protocol" and can also easily be called when you are sick for recommendations... so it is not the end of the world if they aren't at your "home" hospital. Just something to think about is all.

Sorry I couldn't tell you more specifics. I can give you names of the docs at the mito clinics in Boston, Atlanta, and Cleveland if you want them, but I don't know the specifics about the mito clinics in California & NY... and, like I said, there may be more.

Good luck,

Kira

[Prop1]

I am in Wisconsin and I am sure that is too far away for you :)

Where in Wisconsin? I grew up there.



Like Brad said, you might also want to see if there are any MDA clinics near you. Those tend to be neuromuscular docs and focus more on your myopathy issues (vs all of the organ systems affected, if you have them)... I have heard some people having success with the MDA clinic neuro/neuromuscular docs for their mito (Brad likes his).

Yeah, but if you don't like the docs at the close by MDA clinic, they can set you up with a doc at another clinic. Like Kira posted, most docs that know anything about mito are usually pediatric, but see adults also.

I know there is a great Children's hospital in Denver, but I don't know how far away that is for you. Now that I have my dx, I only see the metabolic folks about every 6 mos unless I am sick/hospitalized, so it wouldn't be the end of the world to have to drive a little to get there, as long as it's not too far.

Denver is about 1-1/2 hours north of the home of the Air Force Academy.

[Clashboy]

Brad
I can literally see the Air Force Academy from my window. The Chapel is very shiny!

[Kira]

For me, the big difference between the neuromuscular folks and the metabolic genetics folks has been that the neuromuscular folks only want to focus on the myopathy (muscle) part of my mito... whereas the metabolic genetics folks realize that it affects every cell in my body and therefore causes a lot more of my issues than just my muscle problems (autonomic, cardiac, neuro, GI, hearing, etc). With the neuromuscular docs I've seen, if I bring up autonomic stuff, or GI stuff, or even some pretty overt neuro stuff like complex migraines & sensorineural hearing loss... they either blow it off entirely or maybe tell me to talk to my primary care doc, then steer the conversation back to muscle stuff. Whereas the metabolic genetics doc doesn't just blow off my mito-related complications with other organ systems... he proactively screens for common problems in mito (questions, exam, tests, referrals, etc). I DO like my neuromuscular guy, for neuromuscular issues... it is just that there can be so much more to mito than "just" muscle disease, and I am one of those people with a lot of affected organ systems.

Again, though... if you are lucky enough to get a neuromuscular doc that does pay attention to ALL of you... then by all means, keep them. (I would keep a neuromuscular doc, regardless, even if you do see the metabolic genetics folks... I still see mine once or twice per year and he IS helpful with the myopathy stuff, I just have to go elsewhere for help with anything else).

[Prop1]

I found The Metabolic Clinic at The Children's Hospital in Denver. I'm going to take another stab at getting a confirmed dx. I'll be seeing about having my PCP getting me a referral. And Clashboy, here's the link to their web site: http://www.thechildrenshospital.org/conditions/genetics/metabolic.aspx

[Kira]

I hope you are able to find a good doc in Denver, Brad, and that they can come up with some good solutions for you. You too, Clashboy :)

[Clashboy]

Thanks Brad and Kira for all of your help.

[Mitoscottie]

There are internet e-mail support groups hosted by Yahoo. For newly diagnosed people there is one where you can request membership at <http://health.groups.yahoo.com/group/mitoaction/>: people new to Mito diagnosis can ask questions in a private setting of a panel of people who have dealt with various aspects of Mito.

[hoops2u]

Hello,
I am new to this thread. Normally I am at Dhronic Pain. With the help of Dear Kira I have been investigating Mito. At this point, I would very much like to find a good Dr. to do a complete work-up on me. I seem to be, from all I can ascertain, a text book example of an individual experiencing Mito.

How are any of you being treated for your symptoms?

Blessings to all of you,
hoops

[Kira]

Hoops,

I really didn't want to make it sound like I thought you had mito. I just meant that we had similar autonomic symptoms, which can be caused by a LOT of stuff besides mito. I don't want to scare you into thinking it is mito. (Of course, I don't know, because I'm not your doctor)...

[Prop1]

Hello,
I am new to this thread. Normally I am at Dhronic Pain. With the help of Dear Kira I have been investigating Mito. At this point, I would very much like to find a good Dr. to do a complete work-up on me. I seem to be, from all I can ascertain, a text book example of an individual experiencing Mito.

How are any of you being treated for your symptoms?

Blessings to all of you,
hoops

Yeah, what Kira said. Before you start looking at treatment, you need to find a doctor in your area that is familiar with mito. A dx is needed.