Patient of the Month – Amanda B.
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If you would like to donate to Soft Bones in honor of Amanda, please click the button below!
I found my high school diary recently and against my better judgment, read through it. I was around 15-16 years old when I kept it, and I figured I’d be far enough removed at 40 years old to not feel any autocivarious embarrassment. I was half right.
So much of what’s in there is melodramatic. And dark. So, so dark. But more remarkable is how hauntingly accurate I was in some of my depictions. In true teenage angst, I wrote a poem titled “Bones Crying” (shudder). Wouldn’t you know it, I’m not much of a poet. But I can at least say I was onto something.
Though my mom doesn’t remember, I still have a vivid memory of waking her up in the middle of the night one time, freaking out, because my collarbones felt like they were crawling under my skin. And well, I wanted to rip them out. It was disturbing, hence why I still remember it. I was asking her about it recently when she was staying with me while I recovered from cervical spinal fusion. She didn’t doubt me, but she didn’t know what I was talking about either. So naturally I started doubting myself. Am I crazy? Did I make that up?
I found my high school diary recently and against my better judgment, read through it. I was around 15-16 years old when I kept it, and I figured I’d be far enough removed at 40 years old to not feel any autocivarious embarrassment. I was half right.
So much of what’s in there is melodramatic. And dark. So, so dark. But more remarkable is how hauntingly accurate I was in some of my depictions. In true teenage angst, I wrote a poem titled “Bones Crying” (shudder). Wouldn’t you know it, I’m not much of a poet. But I can at least say I was onto something.
Though my mom doesn’t remember, I still have a vivid memory of waking her up in the middle of the night one time, freaking out, because my collarbones felt like they were crawling under my skin. And well, I wanted to rip them out. It was disturbing, hence why I still remember it. I was asking her about it recently when she was staying with me while I recovered from cervical spinal fusion. She didn’t doubt me, but she didn’t know what I was talking about either. So naturally I started doubting myself. Am I crazy? Did I make that up?
No, I did not. I know this because in my diary, I recount “weird collarbone feelings” and muse “I think I might be going crazy” because “My bones? Why do I want to rip them out?” (Ah-ha! Proof I’m not crazy!) I also muse “I want to start seeing someone” as in a therapist. Good idea, Past Me. Sounds like you need all the help you can get.
So yeah… I remembered correctly. The validation is bittersweet. The number of times I reference being tired, in pain, nauseous and/or throwing up, and feeling a general sense of “blachiness” is actually just really sad. In one entry I write:
Today was also a blachy day, but I am too tired to write about it. I’ve been really really tired lately. I do not know why, it is weird because I am getting sleep.
To read my diary would hardly give a hint as to what my life was like from the outside looking in. I graduated high school with a 4.0, was on the tennis team, had tons of friends, babysat, volunteered at the Humane Society, traveled, and so on.
Today was also a blachy day, but I am too tired to write about it. I’ve been really really tired lately. I do not know why, it is weird because I am getting sleep.
To read my diary would hardly give a hint as to what my life was like from the outside looking in. I graduated high school with a 4.0, was on the tennis team, had tons of friends, babysat, volunteered at the Humane Society, traveled, and so on.
But, when looking back through the lens of Hypophosphatasia (HPP), little tiny red flags stick out all along the way, pretty much starting from as early as I can remember.
When I was in kindergarten, I had walking pneumonia. I somehow seemed to sleep excessively yet not at all. I ate like I had a “bottomless pit” but I was as skinny as a beanpole. I started getting headaches around 8 or so, diagnosed with GERD at 14, got shin splints from running track in 8th grade that I swear persist to this day, was prone to styes and chalazia (had to get those surgically drained a couple of times, luckily I had Mr. Seal by my side).
Let’s see, what else? Sick every winter, lost my voice for a full year in high school, which oh yeah, reminds me of the frog I had stuck in my throat when I was a kid (nodules. It was just nodules. Don’t worry, I was way too picky to eat a frog). And according to my sister, I “shouted before I could talk and ran before I could walk” – which I learned in my 30s was just good old fashioned ADHD. There’s probably more but I’m getting heartburn trying to think of it all.
When I was in kindergarten, I had walking pneumonia. I somehow seemed to sleep excessively yet not at all. I ate like I had a “bottomless pit” but I was as skinny as a beanpole. I started getting headaches around 8 or so, diagnosed with GERD at 14, got shin splints from running track in 8th grade that I swear persist to this day, was prone to styes and chalazia (had to get those surgically drained a couple of times, luckily I had Mr. Seal by my side).
Let’s see, what else? Sick every winter, lost my voice for a full year in high school, which oh yeah, reminds me of the frog I had stuck in my throat when I was a kid (nodules. It was just nodules. Don’t worry, I was way too picky to eat a frog). And according to my sister, I “shouted before I could talk and ran before I could walk” – which I learned in my 30s was just good old fashioned ADHD. There’s probably more but I’m getting heartburn trying to think of it all.
I was active though. So active. I danced, did gymnastics, played softball, played tennis, swam, skied, and rode horses at camp. Considering how wild and chaotic I was, it’s shocking that I actually never broke any bones (save for my nose, which may have just been the cartilage).
And my teeth? They didn’t fall out early. They barely fell out at all. I had to work at them, twisting and pulling and yanking because they’d stay perpetually loose and unmotivated to get lost. I did get cavities though, so that was cool (not cool).
Now let’s fast forward to April 2020. It was too early to get tested, but it’s very likely I got COVID in the wee early days of the pandemic. Because I couldn’t get in to see a doctor, and because I had no idea what the h e double hockey sticks was going on with me, I did what any rational person would do and started obsessing in Facebook groups.
After months of online sleuthing and consulting with Dr. Google, I was finally able to be seen in person and get enough tests done to tell me that nothing was wrong with me, except for suspiciously high levels of vitamin B6.
It makes my head spin to think about how many doctors I saw in total. I don’t love to think about the tests either (*ahem* colonoscopy). But in all seriousness, I saw a lot of doctors – including specialists – at tertiary hospitals, none of whom ever once mentioned HPP. And why would they? I didn’t fit with what most people think of when they think of HPP, and that’s if they think of it at all.
I was lucky that a neuro-muscular doctor ordered a full vitamin B panel, because if it weren’t for that, I don’t know if I ever would have figured it out. She and another doctor both tried to explain it away with explanations that didn’t make any sense to me: lab error, too many supplements (I wasn’t taking any), too much food with B6 (no), unknown additives from China (the least sensible but definitely my favorite of all the reasons).
Back to the Facebook groups I went to, this time for B6 Toxicity. And that’s when the clouds parted and the angels shone upon me in the form of Cindy R.. She saw a comment I had made about my high B6 and told me to check my past labs for low ALP.
I had already crossed HPP off my differential list because as previously mentioned, my history didn’t fit. Or so I thought. After some back-and-forth with Cindy, I looked at all the blood work I could find and lo and behold, my ALP had indeed dropped below 40 several times. So that was that. I was convinced. Now I just had to “prove” it.
I asked two of my doctors to order the genetic test, but of course they said no. So Cindy recommended a bone specialist she knew about in my area who had experience with HPP. With her guidance, I showed up to my appointment fully prepped with a stack of records organized like a legal brief. I offered all the exhibits into evidence and the doctor agreed there was a case for HPP. He ordered the test.
The results came back positive for the pathogenic ALPL variant, c.542C>T p.(Ser181Leu). Ka-ching.
I was standing with my horse Quigley when I opened the results. You know in movies when things suddenly go slow motion and turn silent because there’s a momentous event that really needs to sink in? It was like that.
For me, it was the end of a lifetime of not knowing. Even if HPP isn’t the answer to everything, it’s my answer to everything. At least it’s enough of an answer.
It was also the beginning of the next leg of the marathon I call my life: getting Strensiq. Getting approved for Strensiq wasn’t a great experience, but I’m grateful I had the opportunity to try. It took a little more than 2 years before I was approved, as the long process had been made even longer when I moved to another state.
I started Strensiq in April of 2023. For the first six months, I slept (on an air mattress). The whole it-gets-worse-before-it-gets-better thing was true for me, but it didn’t matter much because I was pretty bad off by the time bad got worse. I don’t really know how I got through it because most of it’s fog. After about 6 months though, the clouds parted again and I felt clear skies for a week or so.
Nothing proves “good” like the absence of “bad.” I hadn’t felt that good in years. It was amazing. Amazing in that it was good, yes, but more so just amazing that it was real. It’s easy to feel like maybe you’re just making things up (like my collarbones), or maybe things aren’t as bad as they seem. I’m just a complainer, maybe. I’m a wuss.
Nah. I was barely functioning.
I’d say it was about a year before I really noticed a steadying of feeling better. I can’t say I feel like I did before I got sick in 2020, because my body just seemed to change after that. But I feel so much better than I did before I started Strensiq, which I consider a win.
My script lapsed last year and I was without Strensiq for about 3 weeks. I didn’t think it would matter, or I hoped it wouldn’t, but I felt the setback like a donkey kick to the chest. I don’t want to think about what will happen if I have to stop again.
Every day is still a grab bag for sure. I can only guess what my next surgery will be. Knee? Shoulder? Maybe an elbow.
Have I mentioned my surgeries yet? I’ve had a bunch. Rhinoplasty (that pesky broken nose), labral reconstruction on both hips, trigger finger release on multiple fingers, thumb tenosynovitis release on both thumbs, hysterectomy, and some spinal fusion to top it off. I think that’s everything? Don’t ask me about my meds, we’ll be here all day.
If I’m being honest, I’m scared for what the rest of my life will look like. I turned 40 this year and I have a hard time thinking there could be another 40 years in it for me. Pretty sure the 15 year old version of me couldn’t imagine getting to 40, either. All things considered, I think I’m doing mostly not too bad.
If I could tell someone going through something similar one thing, it’s to leave space for grace. There I go being all poetic again.
Really though – it’s easy to say “be your own best advocate” but it’s very hard to do. Fighting without breaks takes a toll. It’s exhausting, frustrating, maddening, and discombobulating.
You know what’s not? Naps.
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