Patient of the Month- Elissa S.
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Where to begin? It’s been a pretty wild year, but I can honestly say I’m happy today. There’s a peace that comes when you find a walkable path forward, and in my diagnosis of hypophosphatasia (HPP), I feel like I’m finally on that path.
My name is Elissa, and I was diagnosed with HPP about a year ago. As many of you who were diagnosed as adults already know, the diagnosis comes with some deep diving into HPP information. But also a deep dive into your own soul, about what it might mean to live the rest of your life with this quite annoying friend that you’ve just found out is part of your genes. My last few years before diagnosis were very painful. I was feeling terrified and exhausted by the time I learned that I had HPP. I felt like I was constantly touching the white-hot limits of my own pain threshold. And as many of you can also relate to, I was so exhausted by the constant search for answers. My worst fear was crying in front of doctors, and I often did. Appointments are often difficult to schedule, and they frequently result in disappointments. But now I’m here, sharing my story. I’ve read almost all of these patient stories on Soft Bones’ Bone Zone, and they helped me when I was newly diagnosed and in the “learn everything I can about HPP” phase. So, I’d like to pay it back by sharing as well. It feels good to know we aren’t alone, and that what we are feeling is explainable and valid. So let’s go back to childhood first…
My childhood was pretty sweet. I grew up in a friendly neighborhood in Oregon’s capital city of Salem. My parents were supportive and kind, and I was lucky to have an older sister to show me how to be cool. I was tall for my age, and at 6ft, I ended up taller than both my parents. I was a healthy kid, other than an unexplained goiter that was first noticed in toddlerhood. I also had some baby teeth come in without enamel, which my dentist crowned with silver. Other than some nighttime pains in my legs, I was very healthy till I was 10 years old. Around that point, my mid-back would hurt whenever I had to sit for more than an hour. School, car rides, and dinners were a challenge. Then, sometime in my early teens, my knees became hot, swollen, red, and painful. Eventually, an orthopedist found that by taking some fluid out from behind my kneecaps, it helped slightly to reduce the pressure. In high school, I played volleyball and basketball, and even cheered for a season! Mostly, I was strong and healthy. No broken bones, life was fun.
In college, I decided to join the University of Oregon Rowing Team. My second year of rowing, a cute guy joined the team, and that cute dude (Isaac) is now my partner of 30 years! So yes, rowing was a good choice! But in year two of rowing, my right shoulder became really painful. I did physical therapy (PT) sessions and tried to make it work, but by the end of year two, it was clear that my rowing days had to end.
Halfway through school, we found out that I was… wait for it… pregnant. I have an unhealthy amount of trust in the universe, so we just rolled with it! Baby Liliana Ruby arrived in February of 1998, and life got REAL busy. After her birth, my thyroid levels dropped very low, so I supplemented for a few months. And that was that. On with life! I loved being a mom, and Isaac was a strong partner. We both finished our degrees and moved to Portland in 2000, then to Seattle months later. A few years later, I would have my thyroid removed after it became very painful. The surgeon said it had scarred itself to other neck structures and was “multi-nodular” but not cancerous.
During my second pregnancy with sweet baby Maeve, my hips just about didn’t make it through the nine months. They were on FIRE. Then came what I thought were heartburn attacks, but it ended up being gallstones, and so, two weeks postpartum, I had surgery. I had wanted four kids, but decided that I wouldn’t be able to repeat a pregnancy like that one. Two healthy kids, so don’t push your luck, Elissa! My girls continue to be my greatest joy. They are funny and way cooler than me.
Through my 30s, I felt like my body was always bonking. I loved trying new things, but about the time I’d get the hang of it (swimming, tennis, running, backpacking, yoga… ), a mystery injury would appear. Never due to a fall, always just a joint, muscle, or tendon that would flare. So frustrating! When the kids were four and seven, my head began to hurt, and it became one of the absolute worst summers of my life. At first, I just felt fatigued. Then the headache turned to more of a burning sensation, paired with disorientation whenever I’d sit or stand. Many doctors tried to help. There were lots of head scratching, lots of ER visits; it was pretty bad. They suspected a spinal fluid leak, but could never pinpoint where. Then one day, the head pain and pressure lifted. I don’t know what healed, or how, but to this day, I’m so grateful, because that was a poor quality of life (QoL) during those months, to say the least. I now wonder if maybe that episode had something to do with HPP, but I don’t know. Another one of life’s fun little mysteries.
By my 40s, life was really swinging! Two active kids and all the big things that a full family life entails. I loved it, but I could see that my overall health was declining at a rate that didn’t feel good. I was a little heavy, not eating that healthy, and more and more, my body was becoming something I just had to lug around and tend to constantly. I decided to get healthy!
Over the course of a year, I cleaned up my act and made sustainable changes. At first, I marveled that I could actually do it and not fall back into old habits, but in reflection, I think I knew that I didn’t have a choice. Anything I could do to relieve pressure on my joints, I needed to do it, or things were going to go south fast. Even at a healthy weight now, my heels/achilles were stabbing like knives with each step, my joints were on fire, and I was still having severe tendon pains. I eventually found a yoga studio and started walking with friends. Life was pretty good.
Minus the pandemic, things were feeling hopeful. Whatever was eating at me, I was now in charge. Unstoppable! Except… things that were starting to show up that didn’t necessarily hurt, but they were worrisome. My thumbs sometimes had tremors, and my muscles constantly twitched. My sleep was poor. It’s hard to explain, but something was off. Middle age for women is hard, because every symptom you have can be written off as symptoms of perimenopause, but my friends weren’t experiencing these things. So…?
In 2022, I finally saw a neurologist, who surprised me at my first visit by telling me he highly suspected I had Parkinson’s. I would see a specialist a month later, “Nah. You don’t have it,” he declared. I was happy, but still a little worried. “Then what was it?” I asked myself. My suspicion was Multiple Sclerosis MS, but I never told a soul. From the outside, I looked healthy, so I mostly tried to hide and downplay my issues and pain. Later on, I realized this wasn’t a helpful approach. When you tell everyone you’re fine when you aren’t, you can start to feel isolated. Because I didn’t have a diagnosis, I didn’t feel I had the right to complain. Chronic pain is such a mental game.
In the Summer of 2022, I got COVID for the first time. A week after that, my low back/sacroiliac joint (SI) “went out.” I don’t know what else to call it. It just felt excruciating to do anything. I spent a year doing PT, pain clinic injections, ice, rest, and nerve ablation, but nothing worked. I started seeing a rheumatologist. She didn’t have many ideas, honestly. We did some scans, tried some drugs. No change. I felt down. If nobody could figure this out, then what did that mean? Am I just the weakest person in the world? If they can’t see anything on the scans, then am I crazy? I’m sure you’re familiar with these types of thoughts. They aren’t helpful, but sometimes hard to avoid.
After surviving a year of severe back pain, I was feeling defeated. I made the VERY lucky choice to go to the local park for some fresh air. As I walked along the park path, I heard the crack of metal on metal and saw the local pétanque players (essentially a French version of bocce) throwing their steel balls by their clubhouse. I stopped to admire, and a player came over and asked if I’d like to try the game. I said yes, and honestly, I now have NO IDEA where the last two years of my life have gone! Overnight, I became obsessed with learning about the game. The best part was that one only needed to stand in a small pizza-sized circle and throw a one-pound ball without moving their feet. Surely a crumbling 48-year-old could do it if those guys in their 70s and 80s could play! I love everything about the game of pétanque, and I think it would be an amazing sport to share with more people with mobility and pain issues! HPP League anyone? My love of the game gave me a welcome distraction from the pain, and I played as much as I could.
By the Summer of 2024, the wheels were coming off. I was unsteady, in a lot of pain, and slowing down. Friends were noticing it too. I felt exposed when someone would ask me if I was okay. I played some tournaments, but only with the help of a prednisone pack. HPP is relentless at times, and these were those times. (Did you know that going down the stairs backwards is less painful on morning “concrete” tendons? You’re welcome.) Everything felt so hard: getting dressed, sleeping, walking, sitting. Safe to say I was terrified of what would come next. I even started training my pup to be a service dog. He was already alerting me when I experienced fainting episodes, which he trained himself to do, so why not have him pick things up for me? I could see I was going to need his help over the coming decade.
Somehow, the stars aligned for me in 2024 when my primary suggested I switch hospitals and get a second opinion from OHSU Rheumatology. My new rheumatologist diagnosed me with peripheral spondiloarthritis, but messaged me later that night. He looked at my labs and discovered persistently low ALP. “You have something called hypophosphatasia.” All this big news, paired with debilitating pain, really threw me for a loop that fall. Having these new diagnoses was simultaneously terrifying and comforting. I decided to be a little kinder with myself going forward. I had to stop playing pétanque for the winter and focused on self-care. I call those my “bunker months.” I needed to rest and hatch a plan with my new medical team, including a new endocrinologist. Also, a huge shout-out to Soft Bones! I felt so supported and buoyed by their support and community during this time. I had lots of questions, and they never made me feel silly for asking any of them. (Sue, you’re the best!) We are SO lucky to have this organization to lean on.
Earlier in 2025, I was referred to another doctor, and after genetic confirmation of a pathogenic variant, he initiated the process of seeking Strensiq® approval. This past April, I started taking Strensiq, and so far, so good! In the earliest months, I had fatigue, achy legs, and no noticeable improvements, but the injections were easy for me, and I was determined to give Strensiq at least a year or two (if insurance approval held). As I tried to figure out the genetic part of my story, I discovered that I have multiple family members with low ALP on my mom’s side, including her, my sister, and two cousins. I also found out that all Grandma’s teeth fell out between her second and third pregnancies. Yikes. We are still putting the family picture together, and my adult kids have yet to be tested. They are asymptomatic and lead busy lives, so that’ll be something they can look into if they desire in the future.
I began playing petanque again and decided that I really wanted to play more competitively. This June, I just missed a bronze medal in my first National Championships (mixed doubles). Then, in September, I played the Women’s Triples US Championship, and to our disbelief, we took National Gold back to Portland with us! In October, I entered my third National Championship, Women’s Singles, this time. I took home a bronze medal! I feel really proud of that one, because it was just little old ME. How fun to surprise myself at age 50 by becoming a National Champion at anything! Life is hilarious in that way.
In the last two months (months 6-8 on Strensiq), I have begun to feel some solid improvements in my back, feet, heels, legs… kind of everywhere, honestly. The sharp pains and aching tenderness are letting up in my joints and tendons. I can pop out of bed to make coffee without dread. I can pick up the dog’s toys off the floor. I’m not back to hiking yet, or yoga, but I’m feeling really hopeful that maybe life can be more manageable now, with Strensiq and arthritis meds on board.
I don’t know what tricky HPP hurdles may lie ahead, but I am so much more prepared to tackle them with my new team of providers. Blissfully, I’m back to focusing on more mundane things, like “what should I make for dinner?” I’m really hoping to attend a National Patient Meeting at some point. We’re all rowing toward a brighter future for HPPers, and I’m proud to be in “the boat” with you all.
If I had one parting thought, it would be “keep fighting for yourself.” It took me 50 years to finally be diagnosed. I gave up many times, but always circled back and tried again. You are worth it. Better days ahead, my friends…
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