Al’s diagnosis journey: how a broken hip led to diagnosis of a blood disorder

This post is about why it’s so important to keep pushing doctors in order to find out just what the medical problem is, and how to solve it. The following is what Al and I went through(mainly from a medical perspective), and the lessons we learned from it.

Despite mostly finding very good doctors, going from Al’s original injury to a full diagnosis and treatment plan took over a year, and we aren’t going to have full confirmation that we have all variables accounted for until August of this year(2019)[update: due to miscommunication with two different endocrinologist offices and the unpopularity of Medicaid, Al is currently scheduled to see an endocrinologist in December 2019, but I am hoping to get him on a waiting list and seen sooner]. Considering that Al was injured in March 2017, that’s a reasonably long time, especially considering the severity of the initial injury

When and how Al broke his hip

So, my partner Al has had a bit of a rough time with his health. He was in a car accident and experienced a traumatic brain injury(TBI) in 2012, and it took him over a year to recover(he was left with a permanent headache and a slightly unreliable memory), and longer to recover on the employment front.

When he got a well-paying full-time tech support job with good benefits in early 2017, we thought our troubles were finally over, and we could finally pay down some debt and start thinking about eventually buying a house, and maybe having a child. We had a lot pinned on that job. It was a symbol of hope, and of things finally going right.

This made it all the more devastating when he broke his acetabulum after his last day of training. When he got out of work that fateful day, he saw his light-rail train pull up at the station and hurried across the rainy street to board. As he crossed the tracks, he slipped, and landed on the ground, with his left hip apparently bearing the brunt of the damage.

It must have been a pretty violent fall, because it looks like he actually flipped over and rolled a bit – he had scratches on both legs, had hit his head, and generally looked worse for the wear when I finally saw him a few hours later.

He called me to let me know that he had fallen and injured his hip somehow, he thought it was dislocated. He was being taken to a hospital and would let me know where he was when he got there.

Initial diagnosis

They took him to the smaller of two nearby hospitals, and he spent hours waiting for news. When Al’s mother, sister, and I got there, he’d been waiting for a few hours and they had just finally taken x-rays of his hip.

He’d been given a few shots of morphine, which had done nothing for the pain, and we helplessly waited to find out what had happened.

At one point they told us that they hadn’t seen any indication of a break, but were holding him because he was obviously in a lot of pain, so they wanted to figure out why which was both disappointing(how could they not know the problem?) and encouraging(at least they weren’t accusing him of making it up).

By 1 AM(he’d fallen at 5:43 PM, arrived at the hospital around 7, and we’d gotten there around 9), we were pushing pretty hard for information, and finally, somebody came back to us and told us he had an acetabular fracture and had to be admitted.

We had no idea what we were in for.

The acetebelum is the largest and thickest bone in the human body. It takes a lot to break it. In my research following the accident, I learned that an acetabular fracture is pretty uncommon, and is usually caused by an extremely traumatic accident.

Normally, acetabular fractures are the result of a high-speed head-on collision or falling from a tall building(like, not even falling off the first or second floor would do it, more like the 5th).

And Al broke his from falling less than 3 feet – he may have been walking quickly, but it wasn’t like he had been flat out running.

In any case, it was an injury much more severe than a fall like his should have caused.

The initial focus, though, was on what we needed to do to solve the immediate problem: his broken acetabulum.

Right after we found out what Al’s injury was, I had called my mother and let her know what was happening.

She reached out to her orthopedist and miraculously was able to get him to call me. He and I talked a bit(I think it was like 3 or 4 AM), and he confirmed that Al had a complicated injury and that the local hospitals at home weren’t equipped for that sort of surgery.

Even if Al had been injured at home, he likely would have needed to get transferred to a hospital up in Newark or New York, so it was just as well he was already up here.

Once the orthopedic surgeon came by(I think that was 7 or so), we started to get an idea of what we were dealing with.

The surgeon wasn’t happy that Al was there because he should never have been admitted to that hospital – there was nothing they could do for him because of the severity of the break.

That’s right. The hospital couldn’t do the required surgery.

Yes, the orthopedic surgeon was there, but Al needed an Orthopedic trauma surgeon. The nearest one was at University Hospital, the hospital that was equally close to where Al had been injured.

Transferring to the right hospital

Mom’s orthopedist knew a few surgeons at University Hospital, and thought Al would likely get good treatment there, then mentioned some of the doctors he knew. He focused on reassuring me that while it was a serious injury, Al was heading in the right direction.

The orthopedic surgeon at the hospital told us he’d reach out to University hospital and try to get Al transferred over there as soon as possible. This was Saturday morning, and generally, it’s hard to reach much of anybody on the weekend.

I got on the phone with my mother, and she and her husband started researching orthopedic trauma surgeons and looking to see what the best options might be.

I also called Al’s new insurance provider(I’m so grateful that the insurance started his first day of employment) to find out what hospitals in the area would accept his coverage(most of them, it turned out), and tried to get an idea of what else needed to be done.

I ended up by Al’s side when I wasn’t sleeping(or forced out by nurses) for the next week, making sure that he got his medication as needed, got the help he needed, and trying to get the best possible picture of what was going on and what needed to be done next.

A lot of it was waiting. Al was in the Intensive Care Unit(ICU) and on some really heavy painkillers. His parents came to see him, and I gave them a bit of a rundown about what was happening, and we all waited for news while keeping Al as comfortable as possible.

The one bit of normality we had out of everything was that on Sunday night, we got permission from the nurses to stay a little past visiting hours. Al and I usually go to his parents for dinner on Sunday night, and we’re all fans of The Walking Dead.

That night was the midseason finale of the series, and the four of us huddled together in Al’s room and watched it as Al had one of his first meals since his injury. It helped us all feel a little better, I think, being together that night, even if it wasn’t our usual environment.

Yes, Al was in the bed, rather than on the couch, and he wasn’t fully aware/awake the whole time(the drugs were very strong), but that touch of normalcy was an unspoken promise that life would go on – and that sometime soon, Al and I would be back at his parents for dinner on Sundays – that we would be doing it again in the future – and that at some point, we’d be okay again.

In the meantime, my mother was doing her research. While University hospital was the closest hospital that had an orthopedic trauma surgeon, we were also relatively close to one of the best orthopedic hospitals in the world(Hospital for Special Surgery in Manhattan).

Mom dug around and found an orthopedic trauma surgeon or two there, and on Monday, she wanted to call over to them and see about getting Al in.

I assumed that on Monday Al would be transferred to University Hospital. After all, the nurses weren’t giving him food because ‘any minute now’ he’d be transferred to University hospital and maybe they’d want to do surgery immediately. He wasn’t transferred on Monday and nobody could tell us when he would be.

When Al wasn’t transferred, mom called HSS first thing on Tuesday morning(with my blessing), and the orthopedic trauma surgeon there very happily took Al’s case.

He was transferred to HSS later that afternoon.

Why was it so much easier to get Al into the best option instead of the okay option?

Well, we’re guessing it was at least partially because Al’s injury was so unusual and it was just that injury, while normally people with a broken acetabulum are dealing with much worse issues like internal bleeding, possible organ failure, and damage to other bones and body parts as well.

It wasn’t urgent for Al to be transferred to University Hospital, he was stable and that sort of surgery was very challenging – as a regional hospital, they had more urgent cases to take.

Al ‘just’ had the break. HSS is a teaching hospital, so they value giving their attendings unique challenges.

So once the surgeon at HSS was convinced that Al was an Interesting Case, he quickly made the necessary calls and had Al brought in.

Basically, he had to call the orthopedic surgeon at the hospital Al was at, look at Al’s x-rays, then agree to take Al on as a patient.

The process took a few hours, and by the time University Hospital sent over an ambulance to pick Al up, Al had been accepted as a patient at HSS, and we took that ambulance up there instead.

Lesson learned

• persistence is key, patience is necessary, and sometimes looking for the best option gets things done faster because the people involved care more(though not necessarily the same way you do).
• It’s also very useful to frame situations according to the person’s interest(Al’s injury being unusual and severe likely enticed the orthopedic surgeon to take his case, so mom led with that)
• Hospitals and hospital stays are very stressful, so do your best to bring little bits of normality into the space if you can – as we did by continuing a family tradition of dinner and watching a familiar show together.
• If you are kept waiting on being transferred, you can look into other options for treatment. They do need to tell you where they are trying to transfer you.

Surgery and preparation for surgery

Technically, Al had two surgeries, not one.

On Wednesday(the morning after he was finally transferred to HSS, 5 days after his injury), Al’s orthopedic trauma surgeon, after getting more x-rays and CAT scans, performed relatively minor surgery to put Al in traction.

Basically, they drilled a hole through Al’s femur just above the knee and put weights pulling it out of the broken acetabulum so that there would be room to perform the major surgery.

HSS was great, and the staff were much more attentive and focused. I didn’t need to chase people down as much, and Al felt much better about the space he was in.

They also were very understanding about me staying with Al, and they actually had seating that was designed to fold out into space to sleep so I could stay with him most of the time.

The surgeon and his team ended up creating a 3-D image of Al’s break for themselves to better plan and prepare for the surgery. They rebuilt his hip(he couldn’t get a hip replacement because what he broke was what you normally connect a hip replacement TO), during probably the most nerve-wracking 5 hours of my life.

The surgery was successful, Al had his hip rebuilt. The surgeon was so proud of his work that he saw Al in person at every followup Al had with him, and showed off the X-rays and Al to the guests he brought along nearly every time Al came in. Al’s X-rays got a lot of attention, let me tell you!

Lesson learned

• hospital quality is a huge deal, and generally affects how you are treated, your risk of infection, and your emotional response to treatment. In the first hospital, the ICU had very limited visiting hours and poor communication. I felt I needed to hunt down nurses to help with Al’s needs, and I was kicked out of his room multiple times, despite being polite and not interfering in any way with his treatment(or anybody else’s).
• At HSS, Al was checked on more regularly, and when I did search for a nurse or other staff member, they quickly came and helped out, while in the previous hospital they seemed irritated when I asked questions. At HSS, I had access to Al 24-7 and they had space for me to rest in his room. Al and I were better informed about each step, and we were often given estimates for when the next step would happen.

Healing and being tested

Of course, the surgery wasn’t the end of it. Al stayed in the hospital for close to a week post-surgery so that he could heal more, learn to maneuver himself with the crutches, and learn how to use a walker and crutches without putting any weight on his injured side.

He wasn’t allowed to put weight on it for the first 10 weeks after surgery, which left him bordering on bed-bound at the beginning.

He also had nightly shots to the belly area(blood thinner in case of clots) for the first month and went through withdrawal from the pain medications he’d been taking in the hospital(he took the surgeons suggestion of switching to Tylenol a little too quickly for his system to manage)

After the 10 weeks went by, Al started physical therapy to relearn how to walk with his new hip.

He went in for PT two days a week initially, then eventually was down to one, and when he could walk without his cane several months later, he ‘graduated’ from PT.

He still brings his cane with him whenever we go out, but usually feels comfortable leaving it in the car when we get to our destination. [update: Al now only keeps the cane in the car in case of slip risks or fatigue and walks without the cane (or a limp) most of the time]

The primary exception was when we would go to NYC(which we did to see many of his doctors), he often would bring the cane along to help people give him space in the morning, and sometimes he would be fatigued enough that he would really need its support in the afternoon.

With his bones still being fragile, we want to do everything possible to avoid him falling again.

I suppose we can be forgiven for being so focused on his PT and recovery that we forgot to push on the mystery of why his hip broke in the first place.

Al’s first visit after being able to put weight down, I finally remembered to ask the surgeon about Al getting a DEXA scan(which measures bone density).

Al was able to get it done close to home, and then the results were sent up to HSS.

About a week later, we got an email and a call from the office: Al had osteoporosis, which explained why his bones had broken so easily and severely!

Lesson learned

• Physical therapy and finding a good physical therapist is vital for healing from an injury like this.
• Don’t get so absorbed in the moment that you forget to think about the long game.

Secondary diagnosis(when diagnoses are descriptive)

So osteoporosis is a descriptive diagnosis: it explains what is happening(his bones are porous and fragile), but not why(osteoporosis is common in women over 70 due to fluctuations in estrogen levels and other factors, but practically unheard of in men under 40…or even under 60!).

There are a lot of conditions out there that are simply descriptive, so be aware that just because there’s a name doesn’t mean that there’s an explanation.

Al’s bones were exceptionally low density for a man his age. He was over two standard deviations from the mean (2.6, I believe), and the scale pretty much ends at three. It was severe, and it didn’t make any sense.

The surgeon acknowledged that this was far from his area of expertise, and told Al to see an endocrinologist since this was their area of focus.

Lesson learned

• you may need to see multiple specialists to get to the root of the problem
• If you like and trust your doctor, they may be able to guide you to a useful next step!
• Low bone mineral density and osteoporosis describe what is happening, but not why: idiopathic and essential are two terms that signal ‘descriptive’ diagnosis.

Dead end

Thus began a frustrating six or so months of trying to figure out what the actual problem(or problems) were.

We went to an endocrinologist that the surgeon recommended, and though we felt hopeful at the first visit, our hopes were deflated on the second when she suggested that maybe Al had always had bone density issues.

Knowing that Al had practiced martial arts in his late teens and early twenties and likely should have broken something but didn’t(though he did dislocate his right hip, which was why his initial assumption was that he’d dislocated his left when he fell), and that when he was a child he fell off a swing and broke a rock with his head(instead of the other way around), we were inclined to argue that he had not ‘always been that way’.

That first endocrinologist wasn’t bad. She asked probing questions, ran several tests(besides some basic workups, she also tested him for celiac disease, which apparently can lead to low BMD in some patients).

Al tested negative for Celiac(one of the more reliable tests, Celiac can be tough to diagnose and sometimes can only be found through endoscopy-looking at the stomach and intestinal lining themselves), and every bit of bloodwork that she saw appeared to indicate that there weren’t any major problems(in other words everything was inside expected parameters).

So despite the low BMD, every test she could think of didn’t set off any red flags. Her suggestion that he was born that way was her way of saying that she couldn’t find the source of the issue.

So, we had to try again.

Lesson learned

• first isn’t necessarily best, and even good doctors can miss things.
• Persistence is key: just because a doctor gives up doesn’t mean that you should!

Finding the right specialist(diagnostician)

After some digging around, I found an endocrinologist at HSS who focused on bone metabolism(the previous endocrinologist frequently treated people with bone density issues, many of whom had eating disorders, digestive problems, or otherwise were depriving their bones of necessary nutrients, so it wasn’t a bad call), and Al was able to schedule an appointment to see her another month or two later.

She was fascinated with Al’s case(again he was an interesting puzzle to solve), and promised to run down what was happening. She prescribed another battery of tests(including urine cultures), and had us come back after she looked over the results.

So, another month or so later(we’re now at around a year after the original injury), we came back, and she explained that she suspected that Al actually had pernicious anemia, a blood disorder.

When she looked over all of Al’s bloodwork, she noticed that his B-12 levels(which had been checked a few different times) were consistently on the low end of ‘normal’ range and that the amount of B12 found went down every time. Every other test appeared normal.

Lesson learned

• persistence pays off!
• If one doctor doesn’t have the answer, it doesn’t mean that there isn’t one, it just means that you need a different set of eyes or a different perspective

Referred to another specialist

She referred Al to one of the better hematologists in the area(his office was basically down the street from hers), and explained that Al was now well outside her area of expertise.

She’d never heard of a case of osteoporosis caused by pernicious anemia before.

I’ve done some more research and it looks like osteoporosis is a recognized risk for patients with pernicious anemia, but usually, the pernicious anemia is diagnosed first.

After putting him on Fosamax to help rebuild his bones, she reminded Al to make sure he ate as much calcium as possible and suggested that he take B-12 supplements in hopes that he could absorb some of it.

She explained that she was happy to continue to see him to manage the low bone mineral density, but to make sure that they knew and could treat the underlying cause, he needed to see the hematologist

So, we had to make our way to a new specialist in a new field. When I called to make the appointment, they started talking about getting the hematologist to farm Al out because he was busy for months and the pernicious anemia should be confirmed right away.

Knowing that Al was an Interesting Case, I cut her off – “you don’t understand. He’s under 40 and has osteoporosis, and the endocrinologist suspects he has pernicious anemia”. I was immediately put through to his personal secretary, who called me back maybe an hour later to schedule Al for the next day!

Lessons learned

• Good specialists will often refer you to other good specialists
• Being assertive can work wonders, as can being an interesting case! The better you understand and can explain what your situation is, the more likely you are to get the help you need, and if it is urgent, you can often get support faster.

Confirming the diagnosis

So Al finally saw a hematologist for his broken hip. Not exactly what we were expected, but medical mysteries lead to weird places.

Al was initially seen by another doctor in the practice to get his history, but after we laid everything out, the head hematologist came in to discuss next steps. He mentioned Celiac disease – and I pointed out the test that suggested he didn’t have it.

He looked it over and agreed that it was a robust test – but he prescribed a second test to make absolutely sure.

After much consideration and contemplation and discussion, he decided pernicious anemia made a lot of sense.

He requested five or six more blood tests to get more precise details, and look at some other possible imbalances that are common with pernicious anemia.

He suggested that Al get an upper endoscopy to confirm the tentative diagnosis and see if there might be anything else going on in his stomach and intestinal tract.

So a couple of weeks later, Al had an endoscopy with the gastroenterologist closer to home, and we learned that Al definitely had autoimmune pernicious anemia and that nothing else appeared abnormal.

The gastroenterologist could actually see pitting inside Al’s stomach where the intrinsic factor had been destroyed by his immune system.

Lessons learned

• each doctor has their own process and it’s important to respect that.
• When a doctor has a tentative diagnosis, you want them to have one or more tests to verify their theory.
• Often, getting a good look is one of the best ways to make sure you know what is happening – and it’s generally worthwhile to do an uncomfortable procedure in order to have peace of mind

Treatment

Al returned to the hematologist with this news, and there was much rejoicing as we finally knew what was going on!

The hematologist explained that since Al’s immune system was attacking the cells that normally brought B-12 into the bloodstream(known as the intrinsic factor), it didn’t matter how much B-12 Al ate, he wouldn’t be able to absorb much of it(if any).

Al was put on a regimen of monthly B12 shots, and the hematologist recommended that Al take sublingual B-12 daily since at least some of that would also be absorbed directly into the bloodstream.

And that’s it.

Well, that’s it for the ongoing problem of the pernicious anemia. Al is taking Fosamax to help his bones grow stronger again and needs to exercise regularly(especially weight-bearing exercises like walking and weight lifting) to keep his musculoskeletal system as strong as possible.

Fosamax has its own risks, so it shouldn’t be used for more than maybe 5 years. The way that it’s designed, it reduces some necessary bone destruction as well, so people who are on Fosamax long-term actually have an increased risk of broken bones because they become too brittle and any minor faults in growth don’t get corrected.

Lesson learned

• just because the problem is complicated or takes a lot of digging, doesn’t mean the solution will also be complicated or difficult
• Supplements don’t help if you can’t absorb them
• Every treatment has a cost involved

Long-term planning

While the worst of it is (hopefully) over, there are a few things that Al and I need to bear in mind for the future. Besides the constant pain in and around his hip(not a sign of needing a replacement, just his body responding the trauma of the injury and surgery), he will eventually need to have his hip replaced.

It’s possible that that may not be for up to 30 years or so, but at some point, it will happen. For now, it looks like his surgeon did an amazing job, and the bones shifted less than one millimeter post-surgery. Al should just need an orthopedic surgeon for his hip replacement, though his surgery may be a little more complicated than a typical hip replacement when it happens.

With reduced bone mineral density, he may never return to ‘normal’ bone density for his age. Because it was a nutrition issue, it’s possible that he could get close though.

Regular weight-bearing exercise and a good diet(especially making sure he keeps up with his B-12 shots and eats plenty of calcium) will help improve his density as much as possible.

B-12 absorption problems are often associated with difficulty absorbing calcium and vitamin D, so he needs to be vigilant about getting enough of both of these – fortunately many calcium supplements also contain vitamin D.

One of the effects of many gastrointestinal issues is an increased risk of stomach cancer. Stomach cancer is very easily missed, as most of the warning signs are mild enough that they are easily written off.

Al is going to need regular endoscopies the rest of his life to monitor for stomach cancer. That’s not a yearly thing, but it will need to be done every few years.

Finally, we don’t know for sure that we’ve nailed the whole problem. We very possibly have, and he definitely has autoimmune pernicious anemia.

But again, osteoporosis and pernicious anemia just aren’t commonly connected the way Al’s case was, so it’s possible, though unlikely, that there was something more going on.

In a couple of months, Al’s going to have another DEXA scan(he may be doing those every couple years for the rest of his life too), and if his bone mineral density is significantly improved, then we can rest easy, sure that the problem is as solved as it can be.

But, if his density hasn’t improved or has worsened, something else is wrong, and we’ll have to do more digging to identify the source. I’m really hoping for an improved DEXA scan so we can rest relatively easy on that. But we can’t be sure until he has that testing later this summer.

For now, all we can do is try to live our lives to the fullest, maintain his treatment and keep on track for the testing and monitoring he needs.

Conclusion: Al’s diagnosis journey

The biggest lesson through the whole multi-year, multi-specialist adventure we had in getting Al’s hip repaired and finding the cause of the break was to never give up.

When the initial break happened, it was so unusual that it took hours for somebody to recognize it. Only one of the X-rays showed the break, and it wasn’t an expected one.

Once Al was admitted, we initially took the path of least resistance, allowing the hospital to refer him to the nearest hospital equipped for such a complicated surgery, but because it was such an unusual and complicated injury, we were able to get him into the best possible option – because the doctors there looked at his injury as an interesting and different puzzle to solve!

The better the hospital, the more likely you are to be treated well and the lower the risk of infections and complications post-surgery. If you can control where you go, always aim for the one with a better reputation – the more complicated your case, the more important this is!

Try to think about long-term implications as soon as you can – as soon as the nature of the break was shared with family, several asked if there was a problem with his bones.

Despite this, Al’s bone mineral density wasn’t checked until about 4 months after his injury, because neither of us asked the surgeon for the referral(and he didn’t think to mention it again) until about 3 months post-surgery. It wasn’t the end of the world, but if we had known earlier, we could have started that journey sooner.

Don’t give up on finding the right doctor – one or two specialists can miss the problem, but the third(or fifth or twentieth) still could figure it out!

Be prepared to be referred around a bit. Strange issues can require multiple perspectives. While an endocrinologist was such a good diagnostician that she identified the probable problem, Al still needed to go to two different additional specialists to confirm his diagnosis.

A complicated diagnosis process doesn’t mean a complicated treatment plan! Al’s treatment is relatively simple(a monthly B12 shot), even though the journey to his diagnosis was so complicated.

No matter what the diagnosis is, the testing and treatment will contain some risk. Your job as a patient is to keep pushing until a reasonable explanation has been reached, then to know what risks the treatment or conditions increase and make a plan to manage that!