My natural inclination (reinforced by law school) is to look for problems in everything I read or observe. It’s a hard habit to break, but I try to remind myself to spend equal time supporting good work. So let me tell you about the Osteogenesis Imperfecta Foundation Europe (OIFE).
Now, before you stop reading, yes, this is relevant to the hypophosphatemia community! Stick with me for a little longer, please! Remember the article from last week, talking about a pathway to better care? Well, one of the recommendations was to improve collaboration among the rare bone disease communities, breaking down the barriers between us. And there is great potential for collaboration between the OI and hypophosphatemia communities.
I don’t know if you’ve ever met a patient with OI, and I can’t claim to be an expert, but I have met a few. And the thing that always leaps out at me when I hear their stories is that their lived experience is almost identical to the stories we tell in the hypophosphatemia community. The biochemical cause of their symptoms is different, but many of the daily challenges are the same: fractures, bone pain, mobility issues, progressively worsening symptoms, feeling/looking “different,” and not being heard/believed by the medical community. The “not being heard” thing is common across a lot of conditions, but it’s striking how similar the details of that not being heard are for the OI and hypophosphatemia communities. We’re told we have a pediatric disorder and can’t have symptoms as adults, and we’re viewed as drug-seeking because of the widespread chronic pain (instead of more acute, focused pain) and our high levels of pain tolerance backfire on us when we don’t “look” like we’re in that much pain (because we’re so good at ignoring it). In a bit of happenstance, we’re even connected through Ultragenyx, which brought burosumab to market in North America (and some other territories), and which is now developing a monclonal antibody for OI patients! Soon, if all goes well, the two communities will share the frustration of having a treatment but still having to fight hard for access to it!
In any event, because of these lived-experience similarities, I like to keep an eye on what OI patient groups are doing, and I’m so glad I ran across OIFE on LinkedIn. (Highly recommend connecting with them if you’re on LinkedIn, or else check out their website to see all the great work they’re doing.) They had a great-looking conference about OI pain recently, and much of the material seemed equally applicable to XLH pain.
What I think you’ll find most inspiring/educational though is a series of interviews (link takes you to the most recent one, but if you scroll down to the bottom, you’ll find two more on the same subject) OIFE did with orthopedic surgeons. OIFE asked the exact same questions that I think a lot of hypophosphatemia patients (and their caregivers) would like answers to. OI patients encounter a widespread issue, whereby there are a few pediatric orthopedic surgeons in most major medical centers, who develop specialized skills to operate on OI kids, but virtually no orthopedic surgeons who have significant experience with OI adults. (Sounds familiar in the hypophosphatemia setting too, doesn’t it?) Given that OI presents unique challenges for surgeons, OIFE asked: should pediatric orthopedic surgeons also be the ones to operate on OI adults? Or perhaps should they work together?
When asked about the possibility of collaboration, Dr. Michael To (primarily a pediatric orthopedic surgeon, but he does some adult surgery too) responded:
Collaboration between adult and paediatric orthopaedic surgeon is a good model in helping patients with OI. The paediatric orthopaedic surgeons may have more experience looking after the patients for years and know them inside out. The adult surgeons have more experience in adults and in fact many of the skills in treating children and adults are very different. It is certainly a win-win for patients.
Wouldn’t that be equally amazing for hypophosphatemia adults undergoing surgery? Having the experience specific to the underlying bone disease and its consequences for surgery, plus the experience of someone who may not know the underlying bone disease so well but is more focused on the challenges of adult surgery in general?
To some extent, the issue of who has the right expertise depends on the body part being operated on, even within the category of bones (as opposed to neurosurgery or organ surgery). For instance, a pediatric orthopedic surgeon with OI experience may not have a lot to offer in the case of a hip replacement or spinal surgery, simply because those are not the body parts that pediatric OI patients generally need repairs to. Still, as Dr. To noted:
In my opinion, OI is not just about bone fragility. It involves multiple organs and require the inputs from different specialties – dental surgery, ENT, geneticists, IVF, paediatricians, endocrinologists, rehab specialists…. Children are not small adults and certainly adults are very different from children. There should be a comprehensive care no matter if we are helping children or adults.
Isn’t that great to hear? And equally true of XLH and the other chronic hypophosphatemias. I wish more surgeons understood that. I once consulted an orthopedic surgeon about hip replacement, and he was extremely dismissive of my concern that the bone wouldn’t heal after the operation, because of my XLH. He went so far as to deny I had XLH (based on a cursory observation of my minimally bowed legs, no xrays or blood tests), and when I asked whether, assuming he was wrong about that, my bone health wasn’t something he needed to know for sure before recommending surgery that could leave me unable to walk if the bone didn’t heal, he just brushed me off, telling me to just do it. (I did not just do it!) That experience has left me unwilling to have other orthopedic surgery (now that burosumab therapy means my bones would heal), which I probably should have. Imagine how much less anxious I would be now if I’d seen someone like Dr. To, who acknowledged the importance of a healthy endocrine system to successful orthopedic surgery!
Of course, I’m just extrapolating a conclusion about best practices from comments made about a different rare bone disorder, and as I always note in my disclaimers, I am not a doctor, so I can’t say for sure that the interviewed doctors would have the same or similar advice/opinions for our community. I’d love to see a similar series of interviews specific to chronic hypophospatemia someday! So if you ever get a chance to interview an orthopedic surgeon who’s worked on XLH (and other chronic hypophosphatemias’) bones, please grill them for me about their views on the best practices for operating on hypophosphatemic kids and adults.
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Please note that the author is a well-read patient, not a doctor, and is not offering medical or legal advice.
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