Wednesday, August 25, 2010

Gene-y Out Of The Bottle

We paid a visit to the friendly geneticist yesterday. In case you've never done this sort of thing let me offer this bit of advice: Make plans for a long day.

Three and a half hours was about how our appointment timed out. That's a long time to hang out in an exam room with a 5 year old, a 3 year old, and a 1 year old, even with crayons, coloring books and assorted diversions. They began to erode about an hour in and continued to do so until the end. Parental patience was tested.

There was a lot of talking. Family histories were detailed to the extreme. The slightest medical note was explored. Every facet was investigated. It's weird to fine tooth so many lives and have the results charted into their appropriate slots on an ever growing family tree (in our case, a bendy willow.)

By the end we had three demonically bored kids, two frazzled parents, and one remarkably patient physician.

We also had confirmation of that which we already knew.

In thirty years of practice the Doctor has had, by her estimate, roughly a thousand or so Ehlers Danlos patients and is quite familiar with the disorder. She also has EDS herself and she, like myself, begins each day with 800 mg of ibuprofen. She gets it.


She's taking care of referrals for the Girl and the Boy to a pediatric cardiologist, orthopedist, rheumatologist, and a pediatric genetic opthalmologist because detached retinas and other eye issues are apparently more common than we thought. Annoyingly the Boy must first be "officially" referred by our pediatrician to the very same geneticist he just spent 3.5 hours with so that everything is copacetic with the insurance company since the appointment was "officially" only for the Girl.

I'm scheduled to visit my own doctor next week to get the referrals I need to the same specialties.

I tell you, it's one thing having to schedule one family member who suddenly has to see a host of physicians; it's an organizational nightmare when we have to arrange those appointments for three of us.

I have the distinct impression we'll be busy this autumn.

Wednesday, August 18, 2010

The Beautiful People, The Beautiful People

With all our worries about the recent EDS diagnosies I would be remiss if I didn't point out the advantages of having the disorder.

You can, for example, entertain your friends with freaky body manipulations - always a hit at parties.

With EDS, yoga is a breeze.

The disorder makes washing one's own back effortless.

And then there is the more superficial advantage: EDS has been called, accurately or not, "The Beautiful People's Disease." It seems that actors and models have it (or the associated, but somewhat more benign, Joint Hypermobility Syndrome) in a greater proportion than does the general population. The disorder tends to make those who are afflicted slender, longer-limbed, with delicate, long fingers, and with skin that is often quite soft and flawless. In runway models, the loose joints allow for that classic cat-like walk with hips that swing easily from side to side.

A quick google brings up articles speculating that Micheal Jackson had it. Johnny Depp is said to have been diagnosed as well. Mary Louise Parker, David Caruso, Gwenyth Paltrow, and Katie Holmes have been discussed. Two of the tween sensation Jonas Brothers are mentioned. British model Erin O'Connor is one of many, many models that are frequently part of the conversation (the young model Marissa Irwin lives with the rare and painful Arnold-Chiari malformation - a direct result of her Ehlers-Danlos syndrome.)

Certain athletes, particularly swimmers, benefit as well from the anatomical oddities conferred by EDS. The great Australian swimmers Ian Thorpe and Jodie Henry have it and gold medalist Micheal Phelps is rumored to have it as well.

My wife and I had discussed the Girl's unusual attractiveness before all this. We've joked nervously about the strangely womanly way she tends to pose or stand - hand on hip with palm turned out, leg extended, and opposite hip pushed out. It looks very modelesque and isn't a typical pose for a preschooler. It now makes sense and seems quite natural for someone with joints as loose as hers - it offers more stability and comfort. Her skin has always been smooth as velvet with a flawless purity that more than a few people have coveted. It isn't hard imagining her becoming one of the "Beautiful People." So perhaps all the pain, misery, and discomfort she'll face will be worth it in the end...

But I doubt it.

T and A

The Boy got his tonsils and adenoids yanked yesterday. It had to be done. Although he hadn't suffered chronic infections, the glands were so naturally large they interferred with his breathing leading to apnea.

He took it like a trooper. He was understandably nervous and the surgery center was a bit intimidating for him.

When the doc came out to let me know how it went he said that based on the size of the tonsils and adenoids he suspected that the Boy's breathing had probably only been 50% effective. When the anesthesiologist intubated him he commented to the surgeon: "Wow! I can see why you're taking them out."

Freaky kid.

One of the things I never knew is that kids don't come out of anesthesia well. They scream and kick and flail. There was actually a drug protocol just for kids who are "agitated." The nurse said that effect continues into the teens and that can be hard to handle. The Boy lived up to that billing and it was not pleasant at all.

When he recovered finally we headed home for a couple of weeks of R&R (for him.) He dug the jello and sherbert and seemed fine. But about two hours into his afternoon of movies and soft foods he suddenly started hiving over his face, developed a fever and got seriously groggy - unable to stand.

I called the doc and was told to drag him back. They checked him over looking for any reason for the change. Eventually the hives (or just seriously fluching) subsided, his fever dropped, and he returned to his senses. No one could explain it. The best explanation was a possible allergic reaction though he had taken nothing that he hadn't had before.

We watched him throughout the night but it never reappeared. The anesthesiologist called this morning checking to see that it hadn't occured again.

Otherwise he seems to be on the mend and he isn't complaining about the jello.

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.