One Sick Mother

Rare Disease Day Post

I found out ...somewhere (I forget), that it is Rare Disease Day. Of course, as someone who has a few rare diseases, I cannot let that pass, although my head is full of other stuff at the moment.

So the rare disease I want to discuss is Syringomyelia (SM).  I bet you weren't expecting that, were you?  You were expecting Ehlers Danlos Syndrome, or intractable seizures.  Or maybe the plight of the undiagnosed, which is something to which I could devote a month's worth of blogging. Is there an Undiagnosed Day (year)?  There should be.

Yes, Syringomyelia:  WTF is it, anyway?  Well, inside the spinal cord there is a central canal, a little  space through which flows Cerebro-Spinal Fluid (CSF). With Syringomyelia, this canal becomes enlarged in one or more locations, creating a cavity called a syrinx, which in turn will push the nervy parts of the spinal cord (technical term) outward, pressing them against the bone and causing major problems for the sufferer -and yes, "sufferer" is the correct term here, because the primary symptom is usually mind-boggling, intractable neuropathic pain.

We are very familiar with what happens in the spinal cord is severed crossways, the person essentially loses sensation and motor control from that point downward. But Syringomyelia(SM) is not like that. In SM, rather than think of the spinal cord as severed, think of it as being slowly ripped apart lengthways. So the nerves are still intact (but very unhappy) and capable of conducting; however the signals can get mightily messed up.

As I mentioned, the main symptom is usually pain. It is not the only symptom: Tremors, spasms, spasticity, numbness/loss of sensation (although still able to feel the PAIN), paralysis, the "MS Hug" , incontinence, and brain fog are all symptoms.

SM is usually progressive, and the cure is ...tricky (will get to that in a bit)

The primary cause of SM is a blockage in the flow of CSF. Most blockages -like 80%,  are caused by an  Arnold-Chiari Malformation (Chiari, ACM or CM), which is why there are so many Chiari links off this page.  Other causes are spinal cysts, tumors, tethered spinal cord, MS lesions and cranial instability or settling due to EDS or other conditions.  About 1% of cases are idiopathic, in that a blockage cannot be found.

Here we see a pretty significant Chiari Malformation, which has blocked the CSF flow, and made a sizable syrinx. (the blackish void in the center of the cord, to the right of the vertebral discs). You can see the syrinx has taken up a lot of the available space, which is a huge red flag. This person is probably (but not necessarily) a mess.

I have idiopathic Syringomyelia, which is a 1 in 1.8 million occurrence in the general population (how happy am I?).  I think mine, which does not cause me many problems (now) and appears to be slowly self-resolving was caused by a B12 deficiency, but a link between B12 and SM has not been studied.

The treatment for Syringomyelia is surgery. The first course of action is to find the source of the blockage and correct it. In theory, once correct CSF flow is restored, the syrinx will self-resolve. Unfortunately, nerves which have been damaged are unlikely to repair themselves.

In cases where the cause cannot be found, the treatment is pain management (HA!) until the patient is in a wheelchair or at risk of death. Then the surgical team will perform a procedure to place a shunt into the syrinx in an attempt to drain it. The reason they wait so long is that shunt placement requires a surgeon to cut into the spinal cord, thus risking permanent paralysis. Also shunts are tricks and get blocked a lot, requiring additional procedures. Of course, because they usually wait so long to place the shunt in the first place, the nerve damage is usually permanent anyway, so one may question the logic of this approach (and I do).

Like many rare diseases, Syringomyelia and related conditions (ACM and EDS) are quite misunderstood in the medical community and the population at large.

The Big Syringomyelia Myth: A small syrinx does not cause symptoms. 

This is not true, unlike the male sex organ, in which size DOES matter (-to me anyway), the size of a syrinx does NOT matter. Small Syringes (note correct  plural) can cause humongous symptoms, and humongous ones can sometimes be totally asymptomatic. No-one is totally sure why this is, but there are two theories: firstly that width, rather than length is the most important measurement (and any  men with short, fat willies who happen to be reading this right now are doubtless nodding their heads vigorously in favor of this theory). The other theory is that there are probably other factors at play that cause symptoms, such as the underlying blockage and overall CSF pressure (and the men stop nodding).

The other Big Myth, which is related to size and is also applied to diagnosis of Chiari Malformation as well as to other disorders, are those Damn Rules which use absolute measurements as opposed to relative ones. The most widely spread myths are as follows:

• Regardless of symptoms, a tonsillar herniation of <5mm is not a Chiari Malformation 
• A syrinx that is short (spans only one or two vertebrae) and/or less than 3-4mm in diameter does not cause symptoms

Here is the problem with those myths -OK let's call a spade a spade- Damn Rules. First off, as mentioned already, the argument that size does not matter if pain and other symptoms are present. Clearly, it matters.

Secondly, people come in all shapes and sizes. Therefore, absolute measurements taken in isolation make NO SENSE. You cannot apply the same rules of measurement to a  20 lb infant that are applied to a six-foot, 200lb man (but they do!). Plus -especially with these conditions, there are often other skeletal abnormalities. Many people with EDS, who have a much higher incidence of Chiari and SM  than the general population have abnormally long and thin necks. So the tolerances are tighter in there to begin with. The Chiari Institute in New York does syrinx measurement in a sensible way: Rather than use absolute measurements, they us a percentage of available space;  if >50%  of available space is taken up or if other criteria are met (rapidly growing syrinx, serious symptoms, good insurance (Sorry. That slipped out.  TCI are not my favorite people in the world)) they will do in and operate.

With Syringomyelia as with most rare conditions and diseases, there are very few true specialists in the world, and a LOT more research is needed to find causes, treatments and a cure.

For more information on SM visit this site.

Know Your Enemy

(I just know I'm going to be lambasted for this one. Oh well...)

I have seen a lot in the blogosphere about Jerry Lewis and how many people in the disabled community   think he should not have received a humanitarian award. That Jerry Lewis, despite raising around 2 billion dollars for Muscular Dystrophy (MD), Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Athropy (SMA) is not a humanitarian. Money raised alone does not a humanitarian make. 

I became curious about the whole business. What has Jerry Lewis done or said (or not!) that is so horrible?  Would people with Muscular Dystrophy, ALS, and SMA  (or one of several other degenerative neuromuscular conditions) be better off without Jerry Lewis?

Personally, I have never liked the guy. From the moment  I first saw him on the telly, in one of his older, black-and-white movies, where he over-exaggerated every nuance (actually, “nuance” is way too strong a term under these circumstances).  I remember at the time, my beloved Da was giggling at the same movie, while I, all of about 9, was transfixed in horror. I couldn’t understand how a performance could be so overwrought and under-funny at the same time. That experience was an eye-opener for me, because it introduced the concept that people like Jerry Lewis exist. People who are loud, brash and over-exaggerated in almost everything they do.

Years later, probably in the 90s, I saw part of one of his telethons somewhere –I think it was in an airport or somewhere similar where I couldn’t leave and couldn’t change the channel.  I disliked his patronizing and pitying attitude, but then I thought to myself he’s JERRY LEWIS.  What do you expect?  And I listened some more, and realized that he had been on the air for a horribly long time, and he did this every year, and I just had to admire his passion and dedication, even if I disagreed with some of his language and attitudes.

Because –whatever criticism one can level at Jerry, and there has been plenty; here is the one fact I keep coming back to: Jerry Lewis saw MD as a horrible disease and instead of thinking that’s a horrible disease, I’ll donate a few thousand bucks a year and claim it on me tax returns, and leave it at that (guilt presumably assuaged),  he got up off his arse and he really, actually DID something.  A lot of somethings. For over fifty years, through his own illnesses and personal stuff. And it is said he never asked for a penny of payment for his time, which was many thousands of hours. That must represent an awful lot in lost earnings for him

You really cannot fault the guy’s dedication and work ethic.

So aside from some outdated concepts in the telethons –and let’s face it: The man will turn 83 years old next month. How can you expect him NOT to have some old-fashioned notions? How many old people do you know who are politically correct?  Indeed: I just used the term “old people”. What people -young or old, do you know who are politically correct all the time?

 

I decided to find out what Jerry had done that was so bad and had pissed off so many people. I went onto the site The Trouble with Jerry (TTWJ), which is the main protest site and I watched a few of the videos of the protests.  The first thing I noticed was that many of the protesters at the Academy Awards did not appear to have Muscular Dystrophy at all. They claimed Jerry did not speak for them. They are right. Jerry’s causes are MD and ALS, not disabilities in general. Then I noticed discrepancies in some of the Jerry-attributed quotes. “Jerry said to have a disability is to be half a person”.  Well, I happen to be familiar with that particular quote (the original, that is), in context and that’s not actually what he said at all.

These discrepancies piqued the interest of the researcher and analyst in me. What other quotes have morphed with repetition amongst dissenters or have maybe been taken out of context? What did Jerry actually say about people with disabilities?  Is he really a bigot or maybe somewhat misunderstood? 

 

I searched their site for the Jerry Quotes which indicated “bigotry towards people with disabilities. There are 10 of them.  In over 50 years, he has said or written 10 statements (three from the same article),  which some people with disabilities found distasteful, as well as hosting a schmaltzy telethon every year for almost 50 years which is outdated in tone.

10 statements in 50 years! What a complete and utter bastard!  He should be shot rightaway. Or as my sister once famously said "he should be put against a wall and gassed!" Oops sorry! My sarcasm escaped just there.... (Full disclosure,. Jerry Lewis has also said bigoted things about women and the LBGT community, but I am not addressing that here).  Then I looked at some of the actual quotes. Many of them seemed to have been deliberately “misunderstood”. "Jerry said if you are diagnosed with ALS "you might as well put a gun in your mouth"". Yes he did.  TTWJ choose to interpret this statement as Jerry saying that all people with ALS have no quality of life or should be shot. I choose to interpret it as follows:

An ALS diagnosis is a sure death sentence

Which -as of now- is true. There is no cure. And as the quote was taken from a telethon to raise funds for ALS research, I think my interpretation makes more sense than theirs. Spin is interesting, no?

In fact, when I picked through the 10 quotes, I realized the nastiest things Jerry Lewis said about people with disabilities were directed at his detractors; at TTWJ and it's ilk, those demonstrators who have been a thorn in his side for years. They were not directed toward people with disabilities in general.

Now, I started a detailed analysis of Jerry’s article for Parade magazine, the one that seems to spark the most derision from his detractors,  but then I saw that Blake at I Hate Stairs produced a far better breakdown of it, from a better perspective (i.e. someone who has a condition which is similar to MD) than I ever could, so I am going to send you over there to read it.

And then read his brother's piece on the Jerry Lewis haters.

 

Welcome back!

So to my point: “Know your enemy”:  First off, anyone who wants to Jerry-bash (and let’s face it, he is an easy target) should at least afford the guy –and themselves- some basic respect  and do it in a meaningful, well-thought out and  well-researched way, instead of deliberately “misunderstanding” quotes of his  (and now who is perpetuating disability myths?).

And secondly: When I say “know your enemy, I mean know who is your enemy.  Jerry Lewis is not the enemy here. Muscular Dystrophy is the enemy. Jerry Lewis has been fighting Muscular Dystrophy longer and harder than almost anyone on the planet. And while your enemy’s enemy may not be your friend, Jerry Lewis is not your enemy.

 

I have to tell you; -on a personal level, I feel a bit weird about writing this whole piece.  Never in my entire life did I ever think I would devote 1,300 words in defense of Jerry Lewis. I never liked the guy!  And also, this is not my fight! I don’t have MD or a related condition. In fact, I only know two people who do: Stephen Deal, who is a virtual friend, and my friend’s son; -we’ll call him Robbie, who is a little older than my own son, Joe.

Having read Stephen’s blog for months, and having only a tiny inkling of what Robbie and his family are going through, and having been very distressed by their plights, I have to say that I am siding with Jerry on this issue. (in case you hadn’t guessed), He earned that award. Yes, some of his wording and money-raising tactics are old-fashioned, but I suspect Jerry thinks the end justifies the means. And in Jerry’s mind, as in mine, there is only one end: a cure, and almost any means are justifiable.  Because MD is one nasty fucker, which is usually fatal (fast or slow, but degenerative and fatal), and you wouldn't wish it on your worst enemy.

Stephen Deal is perfectly capable of speaking for himself should he choose to weigh in on this topic, so I didn't ask him for any input on this piece. However, I asked Robbie’s father what he thought about the Jerry protesters, and while he wrote a long and well-thought-out reply, I am going to go for the cheap soundbite and only use his last line.

“None of these disparaged people are doing anything to save my son's life or the lives of other peoples' sons. So, they can go fuck themselves.”

If You've Met One...

I realized when I was writing about getting my kids' ASD diagnoses, that they are both very different on paper than in person.  If you just "saw" Joe on paper, -especially a few years ago, you would think he had Classic/Kanner's Autism, whereas in real life, he is much more high-functioning than that. For Grace, the opposite is true: On paper, Grace looks virtually NT, however everyone who works with her agrees that there is "something..."

To me, these discrepancies just reinforce the importance of real face-time in medicine and indeed in any kind of diagnostic procedure. There has been a lot of talk recently about long-distance and "virtual" medical consults, using the Internet and webcams. And while I appreciate that this may be useful in some scenarios; say you have a person with a very rare condition on the West Coast, and the main specialist for this condition is on the East Coast, then you can't expect the patient to fly cross-country to ask a question. It is also probably useful for doctor-doctor consults and remote locations.

But it will never replace face-time and proper clinical practice.

The other thing I was thinking about on the "paper vs person" thing  is that paper cannot really define the nuances -and often the nuances are the most important thing to a patient (or the patient's mom).  For example, both my kids had "severe sensory Issues" when they were younger. Both actually had much the same sensory issues  ...on paper.  They both had tactile defensiveness and proprioceptive hyposensitivity (among other things).  It baffled me for some time that they could both have the same "things", and yet:

1. each one manifested differently in each kid
2. the treatment/response was vastly different for each kid.  In fact, what worked for one kid was almost guaranteed to set the other off!

That threw me. I knew kids might manifest the same thing a little differently, but my kids are brother and sister, so I expected that if they had the same "thing", the experience would be much the same for each child.  Nope.  Not in the slightest!   That's when I started to realize that this Autism business isn't cut-and-dried at all. I subsequently heard the expression "If you've met one person with Autism, you've met one person with Autism". That is totally true for anything "Autism": Rhetts, CDD, Aspergers, PDD-NOS and Sensory Integration Dysfunction (Disorder? what are they calling it these days?). Actually,  -while I'm on the subject, let me take this opportunity (again) to say that the whole diagnostic criteria for ASD/PDD needs to be overhauled bigtime. But even if that happens, there will still be huge differences in kids who have the same diagnosis. I guess if you think about it, we all experience the world differently, so it makes sense that any neurological issues will manifest differently in each person.

And while I am at it (and at the risk of pointing out the obvious), I should mention that the same thing is true for medical diagnoses. Both the paper v. person  thing and the fact that two people with the same diagnoses can look very, very different. I have Ehlers-Danlos Syndrome (EDS), Hypermobility subtype, which is usually known as HEDS (or H-EDS,  EDS-H, EDS type III). There is a scale used to rate hypermobility in people like me. Actually there are several, but the Beighton Scale (scroll down for pics) is the most common. I rate a full 9 (out of nine) on the Beighton scale (depending on the examiner). So on paper, one might think that I am quite disabled by EDS. I'm not. My primary disability is seizures. Yes, I have joint problems, and I suffer with intermittent pain, dislocations and subluxations. But I am not permanently mobility impaired or in constant pain like many EDS-ers out there.

There are people out there who are not so hypermobile, who have a lot more pain and impairment than I have. I don't know how to explain this, and really I don't think I should try. The explanation "If you've met one person with EDS, you've met one person with EDS" covers it just fine.

No Bones About Plants

I have decided that this year is the year I try and re-plant my little herb garden. It was doing quite well until a particularly hard winter wiped it out. Then I got sick, and although there have been a couple of half-hearted efforts to plant some stuff there, the main crop of the past few years has been crabgrass.  And mint.  Once mint take hold it is there forever.  I swear you could drop a balistic missile out there and the mint would eventually re-emerge, having first waited a few months for me to stop looking for it.

I am poor, so I decided to start seeds in the house, which we will transplant outdoors in Spring. Grace was quite excited about this effort, and she helped me with the seeds. We started some peas, basil, thyme, tarragon, rosemary, pansies, impatiens and marigolds And some gladioli seeds I have had forever. Those babies are a more long-term prospect (takes about 5 years to get a flower from a seed), but I figured it would be good for a laugh, if nothing else.

We were almost done when I noticed Grace doing the potty dance. "Do you need to go?" 
"Yes"
"Well, go on then. I'll wait for you"
Off she went, across the kitchen, saying "ow" with every other step.
"Grace, why are you saying "ow"?"
"Because a bone hurts in my knee"

For those of you who are relatively new here, Grace and Joe have both been provisionally diagnosed with Ehlers-Danlos syndrome, the genetic connective tissue disorder that I have.  I am pretty sure that Grace's diagnosis will be confirmed at her next rheumatologist's appointment, because she has had a few  dislocations and subluxations since the last visit. Grace is almost nonchalant about it sometimes: "Mom! My bone popped out".  She knows to tell me if it happens, even if she can get it back in by herself. 

However, knowing she is supposed to tell me does not always translate into actually telling me, especially if we are doing something interestingly distracting like planting seeds.

I told her to go use the bathroom first, then come back and I would have a look at her knee.  "No it's OK, Mom. We can finish the plants first, then you can look at my knee. Plants are more important than bones."

"No, Grace. Bones are WAY more important than plants. We'll look at your knee first".

So off she went to the bathroom. While she was there, I looked for an available surface on which to smack my head.  There was none.

The plants were in the way.  God knows I wouldn't want to damage them!

Getting An ASD Diagnosis

Aspie blogger Quirky Mom put a shout-out on her blog recently for diagnosis stories for ASD kids. I was going to reply in the comments, but I have two kids, so two sets of stories. And I find it hard to use three words when three hundred will come pouring out. I started to write a book on her comments and quickly figured it  would be easier to instead put it here and link.  There is nothing worse than writing a long response and then losing it to the whims of Blogger. OK that's not true. There are a LOT of things that are worse:  Death of a loved one, a car accident, flares, seizures, dislocations, a splinter under the fingernail.... I could go on and on.  But writing a long reply and losing it is pretty bad all the same.

So on to Quirky Mom's questions:

1) Who did you first talk to about your concerns for your child?
For Joe, it was the pediatrician, who poo-pooed my concerns and told me to "wait six months" (this was the same guy who gave me the "Babies under one don't get Strep line; -funnily enough, although this was before that).  In the end, I didn't wait that long. After a party in a friend's house, where Joe completely ignored the other kids in favor of standing motionless and oblivious for over an hour, right in the middle of foot traffic,  listening to the music while watching a strand of spiderweb wave in the breeze,  I called the girls at the front desk and got the number for Early Intervention.

Grace was much ahead of Joe developmentally. However, because of my earlier experience, I was hypervigilent. I first asked the Daycare people (a couple who ran a daycare from their home, who were WONDERFUL and had many years experience) if she was behind the other kids or different in any way. Ines hesitated, then took a big breath and said what I had suspected. Compared to Joe at that age, Grace was ahead. However, compared to typical children, she was behind. They then went on to tell me other stuff she did that they thought unusual, such as never sitting for circle time, and never really playing with the other children, just walking around them. They said they had nicknamed her "the wanderer" for this.

I contacted EI, they tested her, and did that worse-case thing: Yes there were delays, but not enough to qualify for services. As time went on, some new quirks emerged. Then, once she turned three, I contacted the school district and arranged for another evaluation.  She qualified for speech and OT.

 

2) Does your child have a diagnosis? If not, do you think the lack of diagnosis is appropriate for your child? Do you plan to seek one in the future?
Joe's diagnosis was He is on the Autistic Spectrum, we don't quite know where.   They then went on to explain they were calling it Asperger's Syndrome, because he is so related, personable and high functioning. Technically, his diagnosis should be Autistic Disorder because of the regressions and huge speech delay (on paper, he totally meets the criteria). But they thought Autistic disorder did not properly describe him 'now'  ( he was then 5½ years old).

Grace was the trickier kid. (I know. After all that with Joe, Grace was trickier). She initially only qualified for Speech and OT. When she was 4, I asked the district for a re-eval. They sent a team to her regular preschool to evaluate her and every one of them said much the same thing. "On paper, she tests fine, but you see her -especially with other kids and there is something...."  By this time, I had an excellent relationship with the school district -it was virtually a home away from home, so I pushed for an IEE.

The psychologist came to the house and did what looked like a very basic evaluation with Grace, who passed. He was literally walking out the door: "She is fine". I stopped him. "But you never spoke to me about my concerns".  He kind of sighed and I sat him down and mentioned a few things, including Joe's diagnosis. He went back to the table and administered a few more intensive tests. He came back to me, and said something like "You're right. There is something there. She doesn't meet the criteria for Asperger's, but there is definitely something..."  (they always leave that "something" hanging like that)

His report came back "At risk for Asperger's Syndrome".  This turned out to be a stroke of genius on his part. The disict threw a bunch of services at her and she made huge progress. I thought back on this later, and figured maybe the district was (is) afraid that should she go on to develop... I dunno "full-blown Asperger's"(? lol), maybe I could sue them for not averting the risk.

3) Who gave you your child's first diagnosis? Was this the "proper" diagnosis? If not, how did you get the "proper" diagnosis?
Joe initially saw a well respected neuropsychoogist who said he was "too young" (almost three) for a definitive diagnosis. Then, over two years later, he saw a grad student (PhD candidate) at a local university, who evaluated him under supervision of a professor.

Grace saw that psychologist I mentioned earlier as part of an IEE through the district when she was about 4 (she is now almost 9). I have not brought her back for a formal diagnosis, because she is getting quite excellent help as things stand. If it's not broke, don't fix it. 


4) How did you find the professional who gave you a "proper" diagnosis?
I thought the university and the neuropsychologist who initially tested Joe did a good job. They at least ran the full suite of tests.

The qualified psychologist who saw Grace only did a screening, not a full evaluation until I collared him on the way out. I figure this was because the school district was paying (but maybe that is the cynic in me).

5) If you or your child's other parent have a diagnosis yourself, do you think this made the process smoother? If you (or the other parent) are not officially diagnosed, do you think having such an official diagnosis for a parent would help?
It depends on the diagnosis. I have a diagnosis of ADHD, but mine happened after both my kids were  um... "diagnosed". I think in my case, it would be a disadvantage to tell the school. I have already come under some pressure from the school to medicate Joe and the school tested him for ADHD in his last triennial (two questionnaires, the school one lit up like Christmas, the home one was completely dark). I figure if the school knows my DX, the pressure to drug the kids would increase. (I just want to note here that I am not anti-medication.  I took Adderall myself for awhile. However, I believe meds should be given only if needed and as part of an overall program which teaches coping skills. And I had some nasty side-effects).

6) Do you have resources you would recommend?
Check local universities for Autism community outreach programs. There are two big universities around here who have such programs. They have counseling, social skills groups, and evaluations, both by qualified and nearly-qualified people. it is also a good way to meet other Autism Moms.

I also recommend joining a SEPTA (Special Ed PTA)  or other local support groups. The Internet is great, but other real-life parents are a terrific resource for finding ..."stuff" locally.  They will know the good Karate teacher for special needs kids, the better neurologist, psychologist etc, as well as things like camps and classes. They also usually have the inside scoop on the school district and programs available both in-district and outside.

See? I told you it was long!  I hope this helps Quirky Mom and any others out there who are struggling with these issues. 

Why I Hate the Slow "No"

Many years ago, back when I was a contributing member of Society, as opposed to a Sick Mother leading a chronic illness half-life; I worked in a large firm preforming strategic business analysis: i.e. I looked at the market, the competition and the products available, and I tried to figure out what products and initiatives we could release to get an edge over the competition. A lot of my job involved interfacing with the Legal department, because I always had to be sure that my ideas were legal and not in violation of any industry regulations.

I remember one initiative I had, which would have been a great money maker, languished in Legal for several weeks. Finally, after chasing it down, I got hold of a person who looked it over and said "oh we can't do this. It is in violation of SEC regulation 2255b" (OK I made that number up, but you get the picture). 

I was seriously pissed. Not that my initiative was rejected, but because it took so long to be rejected. It was obvious to me that it had languished in Legal -unread- for weeks, until I had chased it. So I wrote a long memo to the head of the Legal department which said in effect "If you are going to say "No", make it a fast "No". I understand if a proposal is potentially viable, it may be a slow "Yes". But if it is an obvious "No" please make it a fast "No" so we don't waste time structuring it further and can move on to other things".

The lawyer who had sat on the proposal for weeks went ballistic when she found out I had effectively complained to her boss. I got a huge memo from her outlining why she had said no. She missed the point completely. My point was not that she had said "no". I appreciated her knowledge and insights. My problem was that she had sat on it for  weeks -unread, before finally saying "no" after glancing on it (with stuff like that, the legal pitfalls are usually obvious to a lawyer straightaway). Had she even looked at it when it was first submitted, she wold have seen the problem rightaway and not lost me weeks of planning.

So the point of this story:

On January 14th I asked my doctor to make a phone call for me about a test.  He sat on it. I nudged him again about it when I saw him in person a couple of weeks ago.  He promised he would make the call "but it would take about a week" OK fine. I needed him to do it over two weeks ago, but I didn't want to pressure him.Yesterday, I got an e-mail from him. He is not going to make the phone call.

This is a classic example of a slow "No" and the main reason why I hate it.

Had my doc told me back in January that he was unwilling to make that call, I would have either found someone else to do it, or I would have dropped the idea and moved on. However I made plans based on the assumption that he was going to make that call (because he told me he was going to make it!). He didn't do it and now my plans are wrecked.

I am very angry.

And confused. I understand why sometimes you get a slow "Yes". Often more research is needed before a "yes" (and sometimes a "no") can be returned. But in with a decision like this, - a request for a favor, there is no excuse for a slow "No". You say "no" rightaway, or you do it eventually.  You don't sit on it for a month and then say no.

It's not about doctoring, lawyering or business at all, but a simple mater of common courtesy

I honestly feel like quoting my late grandmother here and asking what the world is coming to, but I will refrain.

I reckon whatever it is coming to for me; it always was for some.

Setback

And I thought things were going so well.

My blood pressure has been on rather a roller coaster.  When I had the flu, it was 90/52 even with Florinef.  I saw #25 on Monday, and my BP was 150/100.  That was when I realized that the stupid BP monitor I have at home isn't working properly. It is measuring low. Like at least 20 points on both numbers low.

And #25 gave me a severe bollocking for taking Florinef "despite high BP"  (although I did explain that at the cardiologist's last week, it was normal before, during and after the stress test).  He also said that according to his records, my BP runs high.  Most of my other doctors (and I have several) tell me it runs low. I don't know why #25 sees this discrepancy. Either #25 needs a new BP cuff, or my BP gets higher later in the day -#25 usually sees patients late in the evening. whereas most of my other doctor appointments are earlier in the day. Of course, if I had a BP cuff that worked, I could test this theory.

Oh and #25 was very skeptical when I told him the Florinef helped my fits. He acted like it was a placebo effect (at best). I told him "just because you can't see the connection doesn't mean it is not there or that it is not real".  That endeared me to him, I'm sure. Well sorry, #25, I am your patient, not your friend, and you are supposed to be providing a service for which you are paid: i.e. getting me well. It has been over a year and I have just gotten worse.

I am very, very tired of this.

So the next day, when My BP was still apparently high (no way to accurately measure this, but if the size of my ankles was anything to go by, it was HIGH -I could have given a Grand Piano a run for it's money. Thank goodness it is winter), I decided to stop the Florinef.

It is now day 2 and my blood pressure has not gone down.  I am very confused. I don't know what is going on.  My foot is numb again, but I have not had any more seizures.   Yet.

I'm sure they are in the mail.

Dependence

I remember several years ago, my sister was diagnosed with a condition, which required treatment with daily medication. For the rest of her life. I remember at the time, she was quite upset about this. She was concerned that she would have to take medication every day for the rest of her life. I honestly didn't see the problem at the time; I thought: You have a medical condition, you take your meds, you feel better. What's the problem? 

Well today, I was in the bath and I found myself counting pills in my head matching them to the days until my next endo visit, trying to calculate if I will need to call to get a refill before my next visit.  Just to clarify how mental I was being: I have almost a full bottle and there are two refills already on the prescription. I was freaking out about three months ahead of when I needed to. I got hold of myself and settled down to soap my toes.

But I realized that I now understand where my sister had been coming from all those years ago. 

There is something very humbling about being dependent on a medication to preserve your health and quality of life.  Knowing that there is a possibility I could be left without this drug, say if I had to go on a trip or if my coverage changes; leaves me feeling exposed and quite vulnerable.   I am used to being completely self sufficient. But now I know that my body is missing a vital component which will forever need to be replaced from outside.

I am certainly not the first person to face this reality.  Many people with conditions like diabetes, heart disease and chronic pain are dependent on medication to preserve life and/or quality of life.  I have been on medications long-term in the past, like NSAIDS for chronic pain, but I have always known that I could cope without them. I may not be very happy, but I would still function.

The difference now is this: I know without Florinef, I will be incapacitated within about 24 hours. If my experience at Christmas with rebound effects is anything to go by, I mean I would probably be convulsing violently for prolonged periods and unable to call 911 if alone.  

That's a scary thought.

I know I should be grateful that my condition is treatable (I am) and I know there are options available to make provisions for emergency situations -MedicAlert and all that stuff. I am going to talk to my doc about it. And I will be fine with this stuff once it all sinks in and my head stops reeling.

But before it does, I am going to call my sister and apologize for my lack of sensitivity 12 years ago.

Intellectual Disabilities and Sexuality

There was a call put out by Dave at Chewing The Fat a few months to blog about disabilities and sexuality in honor of Valentine's day. This is my contribution:

There was a kid lived in our neighborhood whose name was Sidney. Not Sid, Siddo or any of the silly nicknames Dublin kids give each other: He was Sidney.

Sidney didn't have a nickname because Sidney had an intellectual disability.  I guess the lack of nickname -incidental and unintentional as it might have been- was just another way for us kids to mark his difference.  Or maybe it was his mother's attempt to preserve his dignity.  I don't know. I just know he was the only kid -certainly the only boy- around our neighborhood who was called by his proper, full name.

I didn't see much of Sidney growing up. He didn't live right in our neighborhood, but next to it. He attended different schools than we did. My friend N. knew him slightly, having attended some kind of summer program with him once. He sometimes used to come by on his bike when we girls were playing kickball in the lane. He would ride nearby, apparently craving our company, but if we tried to talk to him or invite him to play with us, he turned his bike and rode away.

Years passed and we girls grew older and more womanly -especially me, who was cursed with a 40's pin-up bod at 14 (that didn't last, unfortunately).  When I was maybe 17, I ran into Sidney again one day when I was walking through his neighborhood with my trusty German Shepherd.  The guy had grown.  He was about 6'3" and 200lbs.  He recognized me and fell into step beside me, staring so hard at my breasts, I am amazed he didn't walk into traffic.  I don't remember the conversation, except it was very awkward,  Sidney kept trying to clumsily turn the subject to my underclothes, and I kept the confused dog firmly between us.  I want to stress that despite the guy's size (I am 5'3"), I never felt threatened or intimidated by him, just very uncomfortable at his subject choices.

I decided several weeks ago to write about this, and I have tried to honestly think back and remember my thoughts and feelings at the time.  I realized during that conversation that an intellectual disability will not diminish one's natural wants, feelings and desires. I understood then that Sidney's disability posed a huge hindrance to the boy/girl interaction and communication that goes on: the flirting, Significant Looks, wordplay, smiles and all those little verbal and non-verbal communications were not something about which Sidney would ever have a clue.  He would never have the banter and easy charm of the nicknamed kids. And I could feel his desperate need and loneliness, although it scared me at the time.

Many years have passed since that encounter and I am now the mother of a boy (and a girl) with special needs.  Age and motherhood have given me a lot of insights now that I didn't have at 17 (although I don't think my 17yo self was completely without insight).  I know NOW that a lot of people with intellectual and developmental disabilities do not have a lot of the "in-built" functions that we normies take for granted. They do not inherently understand how to tell or respond to a joke or how to initiate interaction with peers. My own son at 3yo was non-verbal, yet he craved the attention of other kids. His way of getting that attention was to run up to them in the playground and body-slam them.  Needless to say, this did not usually have the desired effect.  It took some work to change this behavior.

It occurred to me that like Joe in the playground, Sidney was long-ago employing similar sledgehammer tactics to a kid-glove problem. Because he had never been taught differently. And trust me, these skills CAN be taught.

It was true in Ireland back then, and it is probably true through most of the world now, that kids with special needs are not taught how to deal with their sexual feelings. They are probably taught about what is appropriate behavior in public. Other than that, they are left to hide their needs and shame behind closed doors.  And education is such an easy solution. I don't mean education about the mechanics or consequences. Not gruesome pictures of venereal disease. I mean education about the social and emotional aspects of interpersonal relations. And safe situations in which to socialize.

I have been thinking a lot about this. In my limited experience, the people I have known who can love -I mean really flat-out, unrestrained, completely and totally  LOVE -without conditions or complications- are people with intellectual disabilities. To deny education about how to apply that love denies not only the potential giver, but also those who could be receiving it. Because many disabled people, without  knowledge and learned skills, will chose not to risk the interaction at all, not risk rejection or ridicule, but will instead turn their figurative bike and ride away.

To huge potential losses on both sides.

A Lonely Place

I got a call from the Endocrinologist today. My cortisol and ACTH are normal. I don't have Addison's disease. So I asked him what do I have?  What are the next steps towards a final answer?  He couldn't tell me. He seemed to think it was OK to just say I have virtually no aldosterone, treat it with Florinef  and leave it at that. And when I mentioned the heart thing, he advised me to eat more fresh fruit and vegetables "because Florinef can lower potassium".  Yes. I had noticed...

But I still want to know why I have no aldosterone?  Is there an underlying disease process?  And if so, it is hereditary?  And who else deals with this condition and how they handle it?  Because I have to tell you: I am having difficulty managing this condition right now. The tolerances between underdosing and overdosing seem to be very tight. And there is a lot of margin for other stuff to go wrong. The Potassium thing I know about (but I don't know the early warning signs), but what else is there?

I have searched the Internet trying to find others like me, to no avail. I found some Addison's support groups. But most of those guys are not taking Florinef or are doing so in very low doses. Most of them are dealing with the effects of low cortisol, and the aldosterone seems to be almost an incidental problem; indeed, incidentally treated with Cortef.

It's not that I am doing nothing about this.  I found an endocrinologist nearer to home, one who specializes in Adrenal disorders (my current endo is very good, but is diabetes specialist and quite far away). So I will get a second opinion on the aldosterone thing.

And my rheumtologist called yesterday morning. She had gotten the report from the cardiologist (that was fast) and she was checking up to make sure I was going to schedule the follow-up test (I am). I mentioned the aldo. thing to her, and she was very pleased that we are getting close to answers at last.  She has been one of my staunchest supporters through all of this. She never suggested that my issues might be psychological. Although she couldn't always directly help, she did what she could and made suggestions. And she submitted all paperwork for disability and other claims promptly.

So although I feel a little lonely, I know I am alone -and more importantly- not without support. That  means a lot.