A long time diagnosing

October 24, 2008

As many of you know, it took about 18 months before I was diagnosed with multiple sclerosis. I and most of my family thought this was a long time. After living with this disease for the past three years I realized that initial 18 months is not really that long considering the type of ms, and most notably the fact that I am a woman. Whoa there, I am not being a militant feminist.

I have two other sisters with ms. For two of us it took about 18 months or so for a working diagnosis of atypical, chronic progressive ms. The other sister was diagnosed in about six months ( her MRI was lit up more than the Christmas tree at Rockefeller Center). I have spoken with many ms patients-both men and women-and by far I noticed that on the whole men were diagnosed quicker than most women.

Recently, I had a conversation with an ms specialist regarding the length of time it took for me to get a diagnoses.  The doc mentioned that more often it takes twice the time or longer for women to be diagnosed with ms (seems perhaps the dirty little ms secret). Yes, the doc had some ideas as to why this is the case.

First off, the symptoms of ms are usually vague. We all know them: fatigue, weakening of muscle strength, balance/coordination issues, cognitive, and memory issues (not feeling quite as sharp mentally and/or forgetting things more often). Because of the vagueness of the symptoms most docs don’t take women seriously or push the symptoms off as having to do with monthly cycles, hormonal stuff.  

Now I know there are a lot of women who have been diagnosed properly and in a reasonable amount of time. But the truth is there are a lot of women who are not. Yes, I and others have come across Dr. Headupmybutt, Dr. Moron, Dr. Iwanteasycases, and Dr. Itsallaboutmoney. Also the diagnosing criteria, McDonald Criteria, calls for very specific findings in order to put a typical ms diagnosis on a person. 

As far as I know, there is nothing typical about multiple sclerosis. All the literature I read states quite plainly that multiple sclerosis reacts differently with everyone. OK. So, we have a disease that broadly follows some norms, but even within that broad spectrum of norms nothing is typical or the same. For instance there are four types of ms (as we know it right now). These are broad categories in which docs try fit their patients. But even with in these categoreis (RRMS, SPMS, PRMS and PPMS) there are huge variations and differences. Not everyone with RRMS experiences the same symptoms, the same relapses, the same reactions to the disease modifying drugs (dmd). Not everyone with RRMS has the same amount of white spots, in the same pattern. I won’t go on, but you get the idea.

So we have a set of criteria to diagnose a widely varied disease of which there is no one definitive test and no cure. Even the effectiveness of the dmds are unknown. Let me clarify that: the dmds are known to be effective but how effective is uncertain.

I can understand why some patients who do not fit into the McDonald Criteria for diagnosing MS wait for a long time. I see the connection. What I don’t understand are medical professionals who know that there will be many people who fall outside the McDonald Criteria and yet they won’t help those people. These docs act like diagnosing MS is an exact science, with absolute tests and a certain pattern of symptoms that always develops.

I always had trouble with docs telling me they could absolutely guarantee I did not have ms. Really!??!! How can you guarantee an unknown? By the same token I am leery of any doc telling me they absolutely guarantee I HAVE ms. I mean if any test does emerge as being 100% positive for MS, then we’ll all know for sure.  Even RRMS patients need that test administered to them.  So, I guess it could be a long time before any of us are diagnosed with certainty that we have MS.

I finally found some neurologists, multiple sclerosis specialists, who were willing to work with me. Help me, we-hubby,me,son,family-figure out what was wrong with me and help by treating symptoms initially.

Already on baclofen for spasticity which was helping a little, my third visit was a jackpot of sorts. Dr. Kindhearted and Dr. Caring suggested Provigil for fatigue. I used to be one of those early risers who felt the day was half over by 8 AM. Rising at 5 AM and after a few cups of coffee I tore into my chores. By 8 AM chores over, I began my day. As a homemaker initially in my marriage, then as a homemaker and college student. I went back to school to become a secondary school English teacher. 

After graduating Summa Cum Laude, I set up an internship with a local high school. With several teachers retiring, I was already assured a job. It was that spring of ’05 that I set up the internship and by summer ’05 pretty much incapacitated. Besides spasticity, fatigue set in by 5:30am rendering me unable to really do anything. The summer heat also rendered me immobile, only I really didn’t even know the heat had anything to do with it. I had to give up the internship and subsequent job. Disappointment doesn’t even begin to describe my feeling.

Back to September 2006, one by one the docs were attacking my symptoms. First was the spasticity in my legs, second was the fatigue with Provigil. I knew how much Provigil helped because my sister was already on it. She was just like me, a little energizer bunny until MS hit her. Needless to say I was excited about the prospect of having more energy. Maybe I could make it past 7pm before I passed out.

But, wait, there’s more. Dr. Kindhearted and Dr. Caring diagnosed me with Multiple Sclerosis. Most likely Primary Progressive Multiple Sclerosis considering the lack of any the symptoms remitting. WOW! An actual diagnosis! Although it came with a caveat. BIG SURPRISE, huh!?!

Dr. Caring explained that the McDonald Criteria, the official criteria for diagnosing MS, is somewhat arbitrary. He explained that a committee of neurologists convened and decided on the “official” requirements upon which to diagnose multiple sclerosis. All the while knowing that they can never be 100% sure they were dealing with MS. Dr. Caring has been an MS specialist for twenty-five years and knew the toll arbitrary parameters took on patients and their families. HE was not about to let HIS patients go through that turmoil. Why is this important, well because I did not fit neatly into the arbitrary criteria. So even though it seems like PPMS, I was to carry an atypical Multiple Sclerosis tag. Hey, they can call it, me whatever they liked as long as I was being treated.

But, Wait it gets better. I have baclofen, provigil, a diagnosis and now STEROIDS. Solu-medrol to be exact. Wow! A diagnosis, symptom meds (baclofen and provigil) and Solu-medrol. A five day course of steroids. And a follow-up appointment in three months. 

Solu-medrol should give me a boost. Maybe even help with the devastating vertigo I was feeling. The docs were tackling my symptoms, taking it slowly, giving me hope. They were also acutely aware of my aggressively fast downward spiral. They kept increasing the baclofen as the spasticity was unrelenting, the vertigo was constant, bladder and bowel issues continued, fatigue, incoordination kept worsening.

Getting approval from my insurance company took about two weeks then the plan was enacted. Ok, I would go to the infusion center at the hospital for the first dose of Solu-medrol the follow-up with a visiting nurse for the remaining four doses. The hospital dose took about three hours because they hold you for about an hour afterwards to monitor your reaction.

That night a representative from a third party coordinator would drop off the four add’l doses of solu-medrol and the paraphernalia.  Things like IV pole, syringes, heparin, alcohol swabs, etc.

The next morning the visiting nurse showed up explained how I was to administer the solu-medrol to myself. HOLD ON! No one told me I was going to administer the meds to myself. What are they thinking? I’m not a nurse. What if a large air bubble passes through the IV tube? What if I don’t regulate the drip just right and it only takes me an hour not two hours? What if????

Well, the visiting nurse, Phyllis, took me step by step through the entire process. It’s ok if it takes only an hour instead of two. Some patients prefer that. If air bubbles accumulate in IV tubes, call the office immediately. The phones are open 24/7, even though I was taking the steroids in the AM. She really alleviated any fears, made me believe in myself, took the extra time. She would even be back in two days to change the needle and take blood.

On day five Phyllis came back a last time to extract the IV needle, bandage me and wish me luck. I felt kind of silly, though, because all it took was pulling out the needle, putting pressure with a gauze pad so the bleeding stopped and then applying a band-aid.

I was good to go. Let the effects begin. Keep in mind that for the first week or so your body is so wired that sleeping is difficult. Being around people can be difficult because you are so wired that every little thing can get under your skin. This first course was a learning lesson for me, my hubby, and son. But we managed.

Real Diagnosis

July 21, 2008

In June 2006 after an unsuccessful year of pursuing some treatment with three different neurologists, I hit the jackpot with Sis’s neurologists (one fellow and one Multiple Sclerosis specialist). From June until early August I went through MRIs, blood tests for a whole lot of different diseases, and lumbar puncture.

When these test results came back to Dr. Kindhearted (my primary neurologist) and Dr. Caring (the MS specialist), Dr. Kindhearted called informing of these results. Unfortunately, they all came back normal. Now I say unfortunately only because this delayed diagnosis; and I thought they would stop treating me. I had only just begun the baclofen but I felt some improvement in my legs.

I followed up in August 2006 and was sure Dr. Kindhearted and Dr. Caring were going to say, “Well since all the tests are normal except for that small white spot on your MRI which we are pretty sure isn’t causing all your symptoms there is nothing more we can do.” But they didn’t.  In fact, Dr. Caring said the normal test results just makes their job harder, but that is ok because they like a challenge. He also said that even normal test results are helpful to them because it points them in different directions or helps eliminate other diseases. Multiple Sclerosis is really a disease of elimination: other diseases must be ruled out to rule in MS. We were still on track, they were still digging.

They increased my baclofen again at this visit in the beginning of August. They put me through the litany of neurological tests in the office. They then conferred and returned to the exam room. Apparently, my eyes were getting worse. The abnormal eye movements were more pronounced, incoordination worsened in both hands and legs. The spasticity worsened, worsened from mid-June to early August. That was disheartening to hear. Although I knew my eyes were not right. It felt as if I was losing coordination of my eyes, like my eye muscles were weak and didn’t seem to do what I wanted them to do.

In addition to increasing the baclofen, they did genetic testing for CADASIL. As you may know my two sisters were already diagnosed with RRMS. MS is one of the differential diseases when diagnosing CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). WOW, what is that?

Well according to the Genetics Home Reference (Click for the long story) website it is an inherited condition that causes strokes and other impairments. That’s they short story. 

I was sent home with the appointment for the end of September still in tact. It was then that I would get the results from the genetic testing. Yikes! Although the docs didn’t seem to think that it was CADASIL, but due diligence must be followed. Ok, I guess I can deal with that, I mean after all these docs were traveling down roads of which I am sure the buffoons I had previously seen never even heard about.

Hubby and I went home relieved. We survived a second appointment and these docs and Dr. Kindhearted and Dr. Caring were still busy searching for answers.

In April 2006 I felt hopeless, the lowest point in my life. After spending a year trying to find a doctor that would help me, diagnose me, relieve some symptoms, SOMETHING, I was left adrift in a sea of incompetent, callous, unethical neurologists. My family and my primary care physician kept me floating. But when the third neurologist suggested I was psychologically impaired and that I needed a psychiatrist not a neurologist hopelessness settled in for a long winters nap.

Swearing off doctors, I called my pcp to let him know what happened.  He suggested another angle, an orthopedist. He figured we would get help by going through the back door. An orthopedist would surely suggest a neurologist after performing some type of testing, further strengthening my case. What was I a defendant in a court case? NO! I am done; no more doctors. Thanks, but no thanks.

I know what you’re thinking, “What about your hubby?” “What did he do, say?” He told me we were going to pursue some avenue, find help somewhere even if he had to physically carry me there. He was not going to give up. My sisters (both of whom were already diagnosed with MS-having MRIs and Lumbar Punctures consistent with MS), my mother, my friends, my brother (one of three that kept me going) would not let me give up.

So, my sister who lives about an hour away in a nearby state suggested I see her MS specialist, a well-known and respected neurologist. Hubby said make the appointment, I’ll get her there. Sis, called and said her neurologist (a then fellow overseen by this respected MS specialist) wanted to see me. He wanted to help, wanted to work with me. Assured Sis that if he couldn’t help because it wasn’t MS, he would find someone that would and could help me. Hubby kept telling me we were going to that appointment, end of story.

Seemed like a life saver was thrown to me, but at this point I was more than skeptical. My appointment was early June 2006 at 4pm. I don’t remember the day but I remember the time, because we left his office at 7pm. Yes, the doctors took three hours to review my ‘case’. WOW!

They(the fellow and ms specialist) left no stone unturned. I mean they listened to an entire year of my life-symptoms, tests, results. They asked pointed questions for clarification. Then they examined me. I followed their fingers in front of my face, they pulled at my legs, I performed finger coordination tests and finally I walked. But not very far. Immediately they saw problems. Actually they saw problems when I first walked into the exam room, but the second time confirmed what they saw and what their examinations found.

The result: some medication for my symptoms. Initially I was put on Baclofen for spasticity. Spasticity was causing the stiffness in my legs and the pain in my legs and the spasms in my legs. WOW! Medicine that was for a real symptom. Dare I have a little hope! I was cautious. I really held back my hope.

Holding back hope was very difficult because these two doctors cared about me. Really, the way the listened, asked follow-up questions, they way the spoke to me and hubby. When one person reaches out to another out of care, concern is truly a miracle. I had already experienced that with my family and friends. I knew what it looked like, sounded like, felt like. These docs were the true thing.

After their conference, they came back into the exam room and laid out an entire treatment plan. This included the aforementioned Baclofen. Also, they would redo MRIs, massive amount of bloodwork, and a lumbar punture: FOR STARTERS! Then they made two follow-up appointments. One six weeks later after the tests and one six weeks after that to monitor my progress. Then what?

Well their response was “we keep following you, until something definite shows. Meanwhile we keep treating the symptoms.” I was their patient, now. Sometimes, they said, it can take a year or more before a diagnosis can be made. Sometimes, because there is NO DEFINITIVE test for MS, a definite diagnosis cannot ever be made. But the good news was they could be sure this was neurological, upper motor neuron disease. They could tell that right then, upon examination. All else was up for grabs. It may be MS, it may not but they could and would treat my symptoms.

Hope springs eternal.

Finding Help

June 29, 2008

So many people have symptoms similar to Multiple Sclerosis but carry no diagnosis therefore, cannot obtain any medical help.  HOW CAN THIS BE!  First of all  there is no DEFINITIVE TEST for MS.  Let me repeat that.  THERE IS NO DEFINITIVE TEST FOR MS.

According to the Multiple Sclerosis International Federation “unlike many other diseases, there is no straightforward ‘positive or negative’ test for MS and none of the range of tests available to help doctors with their diagnosis is 100 percent conclusive on its own.”

If this is common knowledge then how can neurologists look a person in the eyes and say with certainty YOU DO HAVE MULTIPLE SCLEROSIS or because nothing shows on tests, I CANNOT TREAT YOU. NOTHING MORE I CAN DO.

There is a whole limbo land out there populated with patients people who are suffering.  I cannot say patients because it is easy for some docs to hide behind the object of patient.  Patients are not people, they are the commodity of the business of medicine.  If docs begin to refer to these patients as people then they become sisters, brothers, mothers, children who cannot be turned away.  People must be helped, patients are objects or things.  They are nothing more than the manilla folder containing forms filled out by people hoping this trip to the doc will be the one where real help is found.

If a doc can’t figure out what is wrong or a test to administer in the first few moments of an appointment then it must be the patients fault.  The patient must be mistaken, wrong, or my personal favorite “psychologically impaired”.  

While trying to get diagnosed, dare I say help for my ailment, a friend told me about empirical versus clinical evidence in diagnosing diseases.  Empirical evidence relies on test results.  Clinical evidence relies on observation of patient.  It seems to me that in many instances no empirical evidence may show in regards to an MS patient.  Especially, in Primary Progressive MS as it is currently thought that the axons are effected not the myelin.  So an MRI may not show any white spots or lesions because the damage is below the myelin.

I spent only a year and half trying to get some help, forget about a diagnosis.  I went from a vibrant healthy young woman in my 30’s to a couch bound weak spastic woman in my 30’s within a year.  First diagnosed with seizures even though my EEG show no signs of any seizure, because my first neurologist felt it was seizures.  Seems he was able to diagnose and treat me with seizures without any  evidence on medical tests. After six months he basically said there was nothing more he could do.  

Only I progressively worsened.  I changed my primary care because he told me “not to call him again. There was nothing he could do for me.”  Nice guy, huh.  He even won a best doc award in the area.  WOW! So, my new primary care sent me to another doc.  She seemed much better. Even told me it could take some time to diagnose me, but assured me she could help.

After a full boat of MRIs (brain, c-spine, thoracic spine, and lumbar) and a seven day EEG I followed up with her.  I had hope.  Even if she couldn’t diagnose me after all these tests, she was going to keep trying that is what she said in our very first meeting.  Well by my follow up things must have changed.  The clinic she worked for must have said something because she told me my MRIs were within normal range and I do not have seizures.  Beyond that there was nothing more she could do for me.  When I reminded her that during our first meeting she said it could take awhile but she could help me, she closed my manilla file and opened her office door.  She just stood there while I and my husband left.  

My pcp even sent me to one more neurologist.  This guy was something else.  He lacked any compassion, any understanding, any medical knowledge.  He spent about five minutes reviewing a years worth of testing and doctor notes.  Another five minutes examining me and three minutes letting me know nothing was wrong with me. My husband pleaded with him for help.  His best advice was to see a psychologist as I was suffering from “a disease without any origin”.

Yes, I stood up told my husband we were leaving.  I limped through his office door to the waiting room then back again to let him know that it didn’t matter what was printed on some paper degree hanging on his wall, he was NOT a doctor.  He said he gave us his best advice.  My husband told him if that was his best advice then he should find another profession.

Suffering happens.  Happens to everyone. It will happen to these doctors as well.  Although I suspect they are already suffering deeper than I.  I am surrounded by family and friends lifting me upon their backs in hopes to lighten my load tiny bit.  One cannot act like these docs have with a loving supportive circle of family and friends.  Really in the end it is the people in our lives and the relationships we make that count.

Multiple Sclerosis is a chronic disease of the central nervous system comprising the brain, spinal cord, and optic nerves. There are generally considered four courses or categories of MS-relapsing remitting, secondary progressive, progressive relapsing, and primary progressive. The first three are in the larger relapsing remitting (RRMS) category, while the fourth one is stands alone (PPMS).   PPMS is the only course for which disease modifying therapies are unavailable.  

Although I look like all other PPMS patients I carry the Atypical MS diagnosis because I do not fit neatly into the diagnostic criteria set forth by a group of neurologists who govern these issues. This group of neurologists set forth the criteria because there is no definitive test for MS.  MRIs, lumbar punctures, and various means by which to eliminate other diseases are used when diagnosing MS, BUT these results do not give a guarantee, 100% surety that the disease you are experiencing is MS.  

So, what are the diagnostic criteria anyway?  Well, the current criteria is called the Revised McDonald Criteria which lists several different possibilities set out by the International Panel on the Diagnosis of Multiple Sclerosis.  Sort of like a board of directors deciding a financial plan for their corporation.  Anything decided by a committee usually looks like a Mr. Potato Head put together by a two year old.

As a result many people, I won’t refer to these people as patients because that objectifies them making them seem like a cardboard box, fall through the cracks.  Falling through the MS crack is akin to falling down the proverbial well.  Isolated, stuck, screaming for help without being heard and unable to scale the cold, slippery stone wall back into daylight.

 

I stated this blog because I am diagnosed with Atypical Multiple Sclerosis.  In 2006 after a year long battle consisting of many medical tests and several callous neurologists I finally found a compassionate doctor who was willing to work with me.  By the autumn of 2006 I was diagnosed, however, we keep looking for answers.

Having a progressive form of the disease is isolating.  Most of the information about MS speaks to Relapsing Remitting MS.  All of the disease modifying meds are approved for RRMS.  The idea is that 85% of patients have RRMS so therefore most of the money, research, time, energy has been in that area.  The latest numbers show about 450,000 people in the US suffer from MS.  That would be about 382,500 RRMS patients.

But 67,500 people suffer from PPMS.  We are told that because we are only 15%, we should not matter.  How many different meds do RRMS patients need?