the joys of medical experimentation

Every post about the surgeries themselves that I’ve tried to write starts turning into a book.

But I want to write something about them, since it’s the only time this kind of surgery has been performed on someone with Saul-Wilson syndrome, and I want a patient’s (or caregiver’s) perspective to be available somewhere for others to see if they need it.

Because there are so few people who have been diagnosed with this condition, it’s hard to figure out what the most common features are, but in terms of relevance for hip replacement, what I’ve seen in the one study that even mentions joint replacements is:

  1. Hips tend not to be well formed, and hip subluxations and significant arthritis are common
  2. Bones are “soft,” can fracture easily (in some cases without obvious reasons) and often don’t heal well, or quickly
  3. Average height for someone with Saul-Wilson is several standard deviations from the mean. Echo, at about 4′ tall, is the tallest person with the condition in the world right now.

What this tends to mean is that it is very common for individuals with Saul-Wilson syndrome to need some kind of hip surgery in childhood or early adulthood, that the surgery is complicated by the fragility and softness of the bones, and that techniques and tools developed on average-sized adults will not be appropriate. Joint prostheses tend to be much too large, even pediatric ones, and so ideally a patient would have a custom hip prosthetic made to the correct size and proportion for their body, and in that case–in the one situation where such a surgery has been performed–a standard hip replacement surgery can be completed, with a fairly short and easy recovery time.

Many orthopedic surgeons are uncomfortable performing joint replacements on young patients (<30 years old), for a variety of valid reasons, and many surgeons will outright refuse. In many pediatric patients, a hip osteotomy will be performed to postpone the need for a full replacement. In an osteotomy, the bones are essentially reconstructed in the joint to provide better coverage for the femur and reduce the subluxation and, basically, rubbing, until the patient has reached adulthood. However, in the case of Saul-Wilson syndrome, the osteotomies that have been performed have not been successful, because the bones don’t knit together properly. The one recommendation in the single study that discusses this is that osteotomies be a last resort.

So you are likely to need to find an orthopedic surgeon who is comfortable with performing total replacements on young patients, and who has access to custom hip prosthetics.

But let’s say custom hip prosthetics aren’t available. Let’s say there’s a global pandemic. Let’s say the best estimate any expert can give you for when a custom prosthetic might become available is a shrug, and thanks to the pandemic, health-care shutdowns and surgery delays and cancellations have already turned this into an urgent situation. Let’s say the patient is in pain even when they’re not moving at all. That simple actions like sitting up and lying down can be excruciating, even with all available treatments, even on opioids.

I’ll be honest: if we’d had any better options (if we had a date for the prosthetic, if we had better certainty around when a delayed surgery might be performed, if we’d known where we would fall in the priority ranking when surgeries would resume), we would have likely not gone this route. It has been very challenging, and because it’s the first time this has been tried, we won’t know for sure how it’s all gone until the recovery is over and we’re doing rehab. But here’s what our surgeon proposed:

1) Splitting the femur: because a prosthetic that fits Echo could not be used, they used the smallest pediatric prosthetic they could get. It was still too big, so to make it fit, they had to split the femur. There’s a ton of wire and, I think, some donor bone grafts holding it all in place, but still. For a person with average bones, that would necessitate 6-8 weeks of no weight-bearing activity, but Saul-Wilson means bones are soft, so the surgeon is being very conservative and there is no weight-bearing activity for 12 weeks. Until we have a few check-ups and x-rays, though, we can’t be sure how the healing is going or when weight-bearing will be safe to try. This is in contrast to operations with properly-sized prosthetics, where you are weight bearing, at the latest, the day following the surgery.

It’s also a lot more painful, obviously.

2) Bone grafts to build a rounder hip joint: Honestly not sure there would be another option here. It’s not an osteotomy since, as I understand it, they’re using donor bone, but how the healing goes is still an open question. I can tell you that as I write this, 6 weeks after the first surgery, Echo is comfortable lying on that hip. (They haven’t been able to lie on their right side for a long time, so this is significant.)

3) Lengthening the femur: This one has been the hardest, IMO.

Initially this was presented as a personal choice: would you like to be an inch taller? Echo went back and forth and eventually decided to go for it. An inch isn’t going to make a huge difference, but there are times when it would make life easier (like reaching a bathroom tap or a light switch etc.). We were told that the main risk is nerve damage but that it was minor, so long as you didn’t go for more than 1″.

In the hospital after the surgery, we were told that it was also necessary to provide extra stability given the whole splitting-the-femur thing. Who knows what’s true.

What I can tell you is this: yup, nerve damage is a risk. It happened. A few days of numbness followed now by at least ten days of burning and pins and needles. Not constant, but there, and worse when they’ve been doing physio or spending time sitting up. Lying down tends to make it better, but not always. They’ve been put on a medication to help with the discomfort of the nerves repairing themselves.

But it’s not just nerve damage. Echo’s also had intense muscle spasms (like both legs flailing around the hospital bed, and them unable to control it) and excruciating pain as the skin, muscles and tendons are all lengthened an inch the course of a two-hour operation. In retrospect this seems obvious, but we were blindsided.

There are medications that can control the spasms (baclofen, if you’re wondering). And there is a very strong medication that can be used short term to assist with the pain of the muscles stretching (cyclobenzaprine).

But in the meantime you’re not going to be able to bend your knees, because that will cause the muscles to stretch even more and, trust me, it’s a kind of pain you don’t want. Also there’s just a limit to how far they will stretch.

Six weeks after the first surgery, Echo could again bend the right leg for about an hour without substantial discomfort. Four weeks after the second surgery, some range of motion is coming back, but the left leg still needed support and couldn’t bend fully. This means that for a period of at least a month and probably more afterwards, you will need a wheelchair with elevated leg rests.

(You might think we’d be warned, but no. We discovered this after the first surgery when we had no safe way to get Echo home. An hour on a highway with a footstool propped under the operated leg led to howling with pain that we could do nothing about. Going back for the second surgery with the proper wheelchair was a lot easier. Coming home again was another story: the beginnings of nerve damage plus the muscle stretching made remaining in one seated position for more than a short period also excruciatingly painful, and Echo spent most of that drive screaming, and again, there was nothing we could do about it.)

The combination of no-weight-bearing plus no-knee-bending means that many of the things Echo needs to do–most importantly getting on to a toilet, but anything that involves leaving the bed–requires two adults nearby to assist: one to hold the transfer board steady, and one to support the legs. We’ve talked to occupational therapists and there are no tools that make this a one-person transfer, so in the meanitme, we’re arranging multiple visits each day–in a pandemic, yes–so Echo can pee. If that doesn’t count as ‘essential,’ I don’t know what does, but honestly, it’s a bit nervewracking.

Basically, if you can wait for a custom hip prosthetic, do.

If you can’t, line up a properly sized wheelchair with elevated leg rests in advance. Get the contact information of taxi companies that can buckle the wheelchair in, because you are not going to want to do a transfer into a car when you can’t bend your knees. If you have access to a transportation service that can accommodate stretchers, that would probably be even better, since–trust me–you are not going to want to sit up for a while. At home, you will need a commode with moveable armrests, and it will need to be as close in height as possible to the bed you are using for recovery. They should be positioned as close together as possible. You will need a transfer board. And you will need to have scheduled visits from two people at a time a few times per day who can help you transfer to and from the commode (and the wheelchair). Depending on what the hospital has available, you may want to bring your own commode in with you (we did, for the second one, because the hospital commode was enormous and it was difficult to get on to and caused Echo pain).


I feel like I’m not processing any of it. Not really. The hardest parts are just developing shells and becoming strangely hollow flashbulb memories, small moments of terrible encased in a protective coating and surrounded by weeks of fog. (Echo ready for the second surgery and waiting for the surgeon to come get them, and asking me, over and over, that it wasn’t too late to back out, we could still change our minds and go home, right? When they said that they were scared but still willing to do through with it, not because they trusted the doctors, but because they trust me. When the muscle spasms hit after the first surgery and we didn’t know what was happening, and I was trying to hold their legs still(ish), and she was crying from fear that the pounding would damage her split femur, and asking me if she was going to die. That first night after the second surgery when the nerve block wasn’t working, and I stood at their bedside, waiting for the light on the pain pump to light up so I could press it again and she could get a bit of pain relief and maybe a bit of sleep. The agony of their muscles stretching out, and none of the pain medications working, and them wailing, “why didn’t they tell me this would happen? I would have said no! I liked myself the way I was!”)

Their pain is much better now. They hadn’t been able to move their right leg independently for months prior to the surgery, and now they can, which is wonderful to see. Mobility in the knees is almost back to normal. They can spend much longer sitting up, and it doesn’t hurt, which also wasn’t true before the surgeries. We’re weaning off the pain meds, instead of just ramping them up every few weeks because the pain was just getting worse and worse. Things are already better than they were in November in a lot of ways, and if the physio goes well and the bones all knit up properly, I think by the summer it will all have been worth it. But there’s a lot contained in that “all.” It’s a very big “all.” I would have done almost anything to avoid it.

I am sewing and reading a bit, but it’s fractured and hard to put words to right now. I’ll think about a review or a post, and then the alarm will go off for meds, or a PSW or nurse will call, or we’ll have a virtual doctor’s appointment, or I’ll need to schedule a grocery pick-up or prescription renewal, and there it goes. Time has also lost all meaning; yesterday feels like forever ago, but at the same time, I can’t believe we’re halfway through the first 12-week recovery period already.

I hope you’re all well, and I can’t wait to have the energy and brainspace to write about other things.

2 thoughts on “the joys of medical experimentation

  1. I live with a man with phantom pain that nothing relieves. I get you. Sending hugs, shedding a few tears. At least you have some gain out of all this. I hope the gains continue.

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