Sunday, August 8, 2010

The Home Stretch

I'm quite bendy. I always have been. I can, for example, bend at the waist and, with straight legs, lay my palms on the floor. For an overweight guy who never stretches and is closing in on 50 that ain't bad. Every year at my annual physical my doctor comments on how strangely flexible I am. For most of my life I assumed that I was normal, if perhaps a bit more flexible than others.

My mother is pretty bendy as well. With her 69th birthday only a couple of weeks away she can still put her foot behind her head - seriously. My brother was bendy too - a gymnast. And according to the family stories, when she was younger, my mother's mother - my grandmother - could have worked as a contortionist.

The Girl is rather flexible as well - much more so than I. That has been part of her problem as her joints are so flexible she tends to be unstable. Every professional who has examined or worked with her has noted it. The term they have used is "hypermobile," though the cause has gone unexplained. It has just been part of her package - another aspect that unfortunately makes her other problems like dyspraxia more pronounced. The bendiness hits another generation.

We are a bendy little family - a virtual carnival troup. That's just the way it is.

Last week while the Girl worked with her physical therapist, Jonna, I took the opportunity to ask Jonna what she saw longterm for the Girl's progress. Jonna has been working with her for 3 months now and we really hadn't discussed how she felt the Girl was getting along. Jonna took a deep breath and then said, "I think this will be a ongoing for her. Have you ever heard of EDS?"

"EDS? No. What's that," I asked.

"It's a disorder - Ehlers Danlos Syndrome - and I believe that's what she has," Jonna said calmly.

I had never heard of it.

"With EDS," Jonna continued, "The body doesn't produce collagen properly, collagen that is used in ligaments, tendons, skin, organs - virtually everywhere in the body. The primary aspect is usually very loose joints - hypermobility."

"What makes you think that's what she has," I asked with a great deal of interest, as you might imagine.

"There is something called the Beighton Scale that is used to determine flexibility in various joints. There are nine separate observations made and for every positive observation a point is given. They include bending the wrist forward and the thumb down so it touches the forearm; hyperextending the elbows more than 10 degrees; hyperextending the knees more than 10 degrees; and the like. A score of 5 out of 9 is a positive for EDS. Flyn scores 9 out of 9."

And then she showed me as she bent the Girl's thumb down and laid it comfortably upon the Girl's forearm. "She meets all the criteria," she said.

"So what does this mean?"

"It means she won't get better and will probably suffer a great deal of pain as she gets older," Jonna told me.

"But how, how do you know she isn't just, you know, bendy," I asked.

"Because EDS is hereditary and when we diagnose kids, who are naturally more flexible and therefore hard to test, we have to use their parents," she said matter of factly.

"So then how do you know?"

She looked at me and said, "Because you have it."


"I've watched you work with her for 3 months - climb on the floor, stretch, roll around, play. At first I thought you were just a little flexible but I can see you meet the criteria as well. You have it and so does she, though I suspect hers is more severe."

And so our weekend got more interesting in a hurry.

Jonna discussed the nature of the disorder. She filled me in on the details, the other diagnostic criteria, the various types of EDS (Hypermobility EDS III is probably our type), and the delightful consequences.

Ehlers Danlos Syndrome is rare and hereditary, afflicting perhaps 1 in 5000 to as few as 1 in 15,000 people. It is lifelong and there is no cure. Severity, even within the same type can vary from mild to severe and can also vary from generation to generation and even between siblings that have it. Treatment consists primarily of pain management, because pain is its primary effect.

There are other effects: skin is unusually smooth and elastic - stretchy, wounds take longer to heal, hypotension (low blood pressure) is common making fainting or dizziness when standing a regular feature, mitral valve prolapses (heart valve defects) show up often which can lead to heart infections. Migraines are common. A resistance to local anesthetics has been shown in studies of EDS patients. Numerous sleep disorders, perhaps from pain, though there may be something else at work, are reported. Depression is more prevalent (how could it not be?). In some forms the vessels and organs blow out and in those cases death before age 40 is expected. In some forms humpbacks and scoliosis are the central feature. In others the skin is so soft that sutures placed in it rip through it "like butter" and bandaids can rip the skin away when removed. In one form not one person diagnosed with it has ever been born without both of their hips dislocated (as the Girl's were).

But the single feature that stands out in all the types is the pain, a lot of pain.

I have lived with joint pain all my life. From the time I was a child I sprained my ankles on a regular basis, spent untold school days at home with my foot propped up, ankle swollen and iced. I could not ice skate like the other kids from my midwestern childhood because I had "weak ankles," that rolled over every time I attempted to hit the ice. I complained thoughout my childhood of "leg pain" that was usually dismissed as "growing pains." My own stepfather, a physician, determined it was the result of a "calcium deficiency" and would resolve itself. I learned to just live with it; learned early that the pain I felt was no different than what anyone else felt. Pain was normal.

I often had weird injuries that could not be explained, although numerous tests would be performed in the search for bone cancer or severe hematomas. They would happen and I would move on as they healed slowly. I assumed it was just a bit of bad luck.

When I approached 40 I noticed my joints, particularly my ankles, knees, and hips, hurt more and more. I would bring it up at annual physicals - "I seem to be sore more often anymore, doc" - and was told that pain was the price for growing old. We all get aches and pains as we age and once again I assumed I was no different than anyone else.

Into my 40s I discovered I could no longer run in the mornings with my dogs as had been my habit for a number of years. It hurt too much, and I chalked it up bitterly to age. I began to take 800 mg of ibuprofen most mornings to start my days. My pain was usually a 2 or a 3 on a 10 scale, but it was every morning. There were days it was worse. And there were some days it was awful, yet I thought that was normal.

In the meantime I blew out my ACL and destroyed my wrist, which both chronically added fuel to the fire, even after being repaired, but that was how life worked for everyone, right?

A couple of years ago on the eve of a family vacation to Hawaii I developed unexplained pain in my upper back and neck so severe I could not lift my children or even move very well. I was prepared to send the family on without me as I could not imagine carrying luggage let alone helping with the kids. Only intensive manipulation by a chiropractor along with TENS treatment and heat packs the day before our departure relieved it enough for me to risk the trip.

By the time this last year rolled around I had stopped doing my brisk 5 mile walks with the dog every morning - my ankles couldn't take it.

But that is just what happens when you age, isn't it?

Apparently not.

I score a 7 out of 9 on the scale and only miss hitting 9 out of 9 because my elbows don't hyperextend a full 10 degrees (remember, I can bend at the waist, legs straight blah, blah, blah.) I have this condition and the chronic pain I have experienced for so many years is the result of the joint degeneration and the ligament laxity that accompanies the disorder.

My mother was diagnosed in childhood with "idopathic scoliosis" - a curvature of the spine for which they could find no cause, but is a side effect of EDS. She has broken her back 3 times and her joints from hips to ankles hurt daily. She has had migraines so bad that I carried her into ERs (just as my wife has done with me when I've had them.) My mother has a mitral valve prolapse, a common feature of EDS, and her bones are so brittle with osteoporosis I swear the wind whistles through them.

My grandmother, mom's mom, at age 89 can also bend at the waist and place her palms on the floor. She knows she can do this because that is the only way she can pick objects up off the floor - her knees hurt too much to bend them. She has already had one knee replaced and the doctors want to replace her other one, and both her hips.

The list of EDS symptoms confirmed in my mother's, my grandmother's and my cases is far too long to list, but suffice it to say it was actually funny to just keep checking them off over the weekend. We are a family of circus freaks for a reason.

The Boy is having his tonsils removed next week. We visited with the ENT on Monday to do pre-op. During the conversation I brought up the possiblity of EDS to the doctor, pointing out that even though we had no confirmation (at that point,) I wanted him to be aware that it was a possibility. He said he was quite familiar with the disorder and had patients who had it. "Let's check," he said as he bent the Boy's thumb easily and laid it on the forearm. He checked some other flexibilities and then felt the Boy's skin. He asked me to perform a few circus tricks and then announced, "Yes, he has it." He said that he would put extra sutures in and to expect a longer recovery period for the incisions to heal. He added that he didn't think the Boy's case was severe. For those of you counting, the Boy scored a 7/9.

Yesterday we had an appointment with our pediatrician. She examined the Girl thoroughly and took a look at me (more circus tricks). She listened to our family history and then said it was pretty clear to her. She is arranging for us to see a geneticist to hopefully rule out any of the more life-threatening types. From there we will see cardiologists, rheumatologists, and more than likely end up visiting the Connective Tissue Disorder Clinic at Cedar Sinai in Los Angeles. The pediatrician said that in Girl's case we should plan on a visit to that clinic, or a similar one, about once every 3 months for the foreseeable future, perhaps for our lifetimes.

So what does all this mean?

Well, we don't know. The possiblities run the gamut from a fairly normal life, albeit with substantial restrictions, to a remarkably painful one.

For the Boy, who seems to be the most mildly affected, his soccer plans are cancelled and most sports will be limited. Swimming seems to be his best option. Even with that he could see joint degeneration well before most people, following a pattern similar to mine. He will have to be taught to move his body differently and to protect his joints from dislocations and hyperextensions. He could also develop any number of other complications that seem to turn up regardless of the disorder's severity.

For me the object is to stop any further damage. I know now my experience with joint pain is not normal for a 49 year old, but is closer to that of someone in their 70s. With a great deal of care and caution I could make it deep into my 60s without ending up in a wheelchair. And like the Boy I will have to be thoroughly examined and followed by a host of specialists to make certain I don't develop the nasty stuff.

The Girl is the real problem. The severity of her diagnosis would be bad enough, but other factors make it much worse. Children with EDS have to be taught, as the Boy will be, to protect themselves. to move differently, to not extend their joints too far, to not put too much weight upon them, to be careful... always to be careful. That is hard enough to do with typical active youngsters, but the Girl is not typical: she has dyspraxia. She has difficulty with motor-planning, coordinating her movements, not walking into walls. How do we teach her to move carefully when teaching her to move at all has been so difficult?

Because of the severity of her diagnosis with the overlaying dyspraxia her prognosis is loaded with landmines. She could end up with osteoarthritis by age 20 even in the best of circumstances. She could experience the degree of pain I do by the time she's in her mid 20s. Osteoporosis in her 30s. Or worse. As a girl she could also see difficult pregnancies should she decide to have children. Female EDS patients deliver prematurely more often than the general population. They suffer ruptured membranes in the uterous more often. They experience pelvic prolapse more commonly. And in general, women with EDS seem to experience more pain than males, either because women are naturally more flexible to begin with, or perhaps because men are more likely to be socially discouraged from expressing their pain. Regardless, her row will be hard to hoe.

Jonna, the physical therapist, has made it clear that Flyn can never participate in contact sports. She can never even ride a roller coaster because the joints in her neck and back are so lax that a sudden violent movement, one that might at worst cause a sore neck for most people, could sever her spinal cord.

Both the Boy and the Girl will, once they reach adulthood, have to grapple with the knowledge that any child they bring in to this world has a 50/50 chance of having this disorder, the severity of which could be considerably worse than their own. They will need to make decisions with that knowledge that makes me grateful for the ignorance I had of my condition when I started my family.

I should note that we do not yet know if the G-Thang is affected. She is still too young to make a determination, as babies under two are remarkably bendy and she is no exception. But it goes without saying we hope she won the lottery.

In less than a week our lives - all of our lives, including my wife's - changed radically. It is strange to realize that many plans, and hopes, and dreams have vanished or are at best on hold. We had, for example been working on a long range 5 year plan to eventually buy a large sailboat, load the family aboard and cruise the world for 2 to 4 years. We loved the idea of giving our children an adventure - an epic childhood. We felt that the Girl would benefit most of all from the enormous sense of self-confidence, self-reliance, and the general wonder of it all. She would escape the preconceptions and peer issues that would accompany a more traditional "special needs" life, and when she finally returned, ready for middle school, not a soul would have the power to discourage or limit her. She could look at the critics, naysayers and cruel peers of her age group and say confidently, "I sailed the world. What have you done?" But that is no longer possible because the risk to her life in a boat on the sometimes violent, open sea is simply too great.

Even if we decided the risk was worth it, my wife's employment and the health insurance it provides can no longer be traded for an adventure since private insurance would simply be too costly, assuming it could be had at all.

The damage to our bodies and our longterm prognosies will be revealed over the next several months, but we are beginning to measure the damage to our collective psyches. My mother and grandmother have been informed that all their lives they have had a disorder that is more than likely responsible for the substantial pain they feel now and have felt over the course of their lives. I in turn have an uncertain future that threatens me with something similar to that of my mother and her mother. My dear wife is trying to cope with a family, 3/5 of which has suddenly been diagnosed with EDS and that she may one day be charged with caring for alone.

And my precious children, to whom I unknowingly bestowed this curse, and from whom I would now take all of their future suffering upon myself if only I could - my beautiful kids that see only the loss of soccer or the suddenly more insistent and concerned parental demands to "Settle Down!" - their lives have been changed before they've barely begun.

We are all changed now. And the home stretch is a long way away.


Steve said...

It's 2010, and sometimes it's like we're still treating people with leeches or something. This condition was first identified more than 100 years ago, and yet it took until you were well into your fifth decade before a doctor figured this out?

Very sorry to hear that your family will be dealing with so many challenges for years to come. But I expect that under you and your wife's care and tutelage, your children will find ways to work through the extra cautions that they will have to take.

And I refuse to believe that you will end up in a wheelchair!

arlopop said...

I am less harsh on the doctors. It's a weird thing and only recently has it become more well known and the ability to map genes become so widely used.

That said, 12 years ago I noticed my left thigh was becoming numb. I brought it up to my doctor then and he said it sounded like permanent nerve damage - get used to it. Over the next couple of years it became worse and was accompanied by a stinging or burning sensation that grew progressively worse.

By the time I brought it up to a my new doctor my gait had changed so drastically that my hip had begun to hurt. He sent me to a series of neurologists and orthopedic specialists who put me through so many tests it was insane before they eventually agreed it was something called Meralgia Parasthetica (literally "numb thigh") and it was probably caused by an impingement of the nerve. The condition shows up in pregnant women, the morbidly obese, and people who wear heavy belts for their jobs: fire fighters, police officers, construction workers. The problem is usually resolved when they either drop the belts, have the baby or lose the weight. I didn't fit the categories and it was incredibly rare to have the condition progressively worsen over time as mine was doing.

I asked several of the doctors (by the end I had seen 2 GP, 4 neurologists, an orthopedic surgeon, and 2 neurosurgeons) if it might be some strange disorder that was causing it. 3 of the doctors told me in one form or another that "they look for horses, not zebras," a common medical analogy meaning that the rare stuff never exists and there has to be a simpler explanation.

After several studies they discovered the nerve was impinged by the inguinal ligament (in the groin) so severely that they were certain the nerve was destroyed. No one had any explanation for why this had happened, but c'est la vie.

7 years ago a professor of neuorsurgery at UCSF agreed to perform an operation to cut a "notch" in the ligament to relieve the pressure on the nerve. The procedure was rare. He was one of only 3 surgeons who performed it in the country and had only done it 20 times in 30 years. The day of the surgery the operating room was filled with residents for my surgery to witness "a surgical procedure they might never see again."

Fortunately it was a success and over the course of the next year the feeling slowly returned to my leg and the stinging pain subsided. It never came back fully, but 80% is better than nothing.

All this is a long way of saying that this weekend as I read about EDS I came across some material describing neuropathy (nerve pain) as a major symptom of the disorder and the suspected component of that neuropathy was nerve impingement by bad or altered ligaments.

Yes, even that incident can be linked to EDS.

To add to the irony, the National Ehlers Danlos Syndrome Foundation has a motto. They display it quite prominently on their webpage. That motto is:

"Because Zebras Exist"

Vikki said...

I had thought my daughter Sarah was rare since she has the EDS and Dsypraxia. I am so sorry that you have to deal with the impact that these 2 things will have on your daughter, but am glad that you were able to get her diagnosed so young. Sarah has lots of problems with school work, especially writing. She has to figure out how to make her muscles work the way they need to in order to write, and get her very weak joints to hold a pencil strong enough to be able to form the letters. She has other learning disabilities also that are from the Dyspraxia. Make sure you start working with the school before she ever starts so that she has help in place.

You are off to a great start with all of the help you are getting her. If you ever have any questions, I would be glad to help any way I can.

Anonymous said...

Thank you, Vicki
It is altogether a strange transition for us.

We are already working with the school, but her IEP may need amending. For the moment we'll continue her therapies as they are.

We saw the geneticist today (3.5 hrs long) and she clinically confirmed the diagnosies for us. She is sending her to a bevy of specialists including a genetic opthomalogist as detached retinas and other eye problems are common. Our son will have his own appointments as will I so the autumn looks to be busy.

I wish only the best for Sarah and you, and hope that you get all the support - professional and familial - that you'll need.

I'll follow Sarah's progress.

Thanks for checking in.


Blaize said...

Since I have been fallow, I haven't been reading blogs, much less writing one, so I missed this. And all I can say (even though it is Supremely Inadequate) is, well, CRAP. I mean, really.