Patient of the Month- Scarlett P.
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What an honor to share my story during the month of World HPP Day! I pray it brings insight to those without hypophosphatasia (HPP) and hope and comfort to those living with it.
As a photographer, I’ve learned that shadows are just as important as light. They give shape, deepen contrast, and tell a story. We don’t always get to decide what we are exposed to, but we can use the light we carry, focus and develop it, to create our lives. This is the image of mine.
Normal. Unremarkable.
These words were constantly used to describe me and my body anytime I searched for answers, and they became noxious (harmful) to my ears, yet I knew I functioned differently than most.
I was born 3 weeks early and looked like a porcelain doll. I was taller than most in grammar school and reached 5’ 6” eventually. Sitting properly is a challenge. I always have my feet propped up, at hip level, in some contorted position. Anything else is uncomfortable. Standing still hurts. I have to move or sit. Lots of “growing pains” in my legs and random, traveling aches.
One of my earliest memories was being told by a nurse practitioner that I couldn’t drink the milk I constantly craved because I had “milk crystals” in my urine after having to store every ounce of pee in a container in the fridge for 24 hours. Orange juice didn’t help; it gave me acid reflux.
I struggled with this at random and in different seasons of my life for no apparent reason. I’d be tested for a UTI and then sent away when it was negative. I now wonder if I’d passed a kidney stone or two in childhood, or at least some type of calcium sludge. In adulthood, after a couple of weeks of excruciating urinary pain, I was sent to a gynecologist for testing, who ordered X-ray imaging with IV contrast before and after urination. I was told everything was normal and my bones looked great. This time, my husband was blamed, as perhaps the culprit was marital relations. The urine analysis stated, “few calcium oxalate crystals.”.Of course, I’d passed the bulk of them already.
I was an active youngling and always getting into things, climbing trees, or re-enacting the latest Power Rangers episode with my cousins. I jumped off the deck as it was being built because my uncle did, and I wanted to be cool too. Crashed into the neighbor’s fence going down the hill in my rollerblades, but it was the monkey bars that got me.
Age 7. Second-grade recess.
Like the calcium I craved, I was also obsessed with the monkey bars at school, and I was pretty good with them, except this day. I went to skip a bar, only grazing it with my fingertips, and fell into the pea gravel onto my stomach, looking like Superman trying to fly with one arm outstretched completely and the other tucked under my chest like I was pledging allegiance to the flag. I marched over to the yard duty, told her what happened, and that my left wrist hurt, asking to see the school nurse. I wasn’t crying, so I wasn’t believed and sent to class for the remainder of the day. When my Mom arrived home from work to see me sitting quietly on my bed, she knew something was off. As my Nana had scheduled imaging up at the hospital that day, my Mom decided to take me to the emergency room for an X-ray. My ulna had fractured, and I spent the next month in a cast trying to sort out how to write anything but hieroglyphics with my non-dominant hand.
Physical Education was a nightmare, like I literally had nightmares about it.
Despite being active, I couldn’t run as I became winded quickly, my thighs burned, and fatigue would hit me before I even completed ⅛ of a mile. Yet, they wanted me to run a full mile without walking in P.E. The pediatrician had me run up a hill behind the clinic, then breathe into a spirometer, which wasn’t well explained. The chart said I gave poor effort for both, and running was in my best interest. I hated group sports, especially ones with quick direction changes like basketball. I dislocated my kneecap twice as a teenager, and I have a couple of migratory toes that I’ve dislocated as well. Many of my joints have a lot of laxity (looseness) and are hypermobile. This caused diagnostic delays, as even when in pain, I still had a full range of motion. Normal.
About this time, the tooth fairy vanished, and I rapidly developed cavities, whether I flossed or not. My teeth are my most obvious-to-others HPP symptom. I was constantly getting fillings to the point I don’t remember life without a dentist. My baby teeth fell out earlier than most, but I do recall some having the long roots intact. In 9th grade, I bit into a donut in the cafeteria before 1st period, and half of my front tooth just snapped off. Over the years, I’ve had countless fillings, root canals, and extractions. I went to a number of dental charities for free dental work. When I’d saved enough money for an implant for another front tooth, the dentist told me it would be a waste of my money, stating, “like putting a stained glass window in a haunted house”. Another dentist asked if I did drugs. Now, thanks to an act of God and some amazing people, I have 9 dental implants, 11 crowns, and a couple of bridges. My teeth have never been this healthy, and I was shocked when I was told I had no cavities at my appointments with the dentist who believed in me.
I began having random bouts of tachycardia early in life. I cherished and protected sleeping, yet had a hard time falling asleep and found it hard to wake in the mornings. My Mom brought me to the doctor for lethargy, nausea, and tachycardia. She has been a great advocate for me growing up. We were told I had anxiety and to see a psychiatrist and try antidepressants. Neither worked, as the episodes always started with physical symptoms, no trigger, and the medication turned me into an emotionless zombie with tachycardia episodes. My lips peeled constantly, and I got a few cases of angular cheilitis a year. If only I knew I couldn’t metabolize vitamin B6. “Please report blood test normal” with a circle for extra emphasis. Yet above that note was a different story, showing my 16-year-old alkaline phosphatase level flagged as abnormal, half of the lower limit.
Adulthood brought severe acid reflux to the point I lost my voice often and vomited bile. An endoscopy with biopsy was performed, and I was diagnosed with Gastroesophageal Reflux Disease (GERD). Years passed. Episodes of back pain, nausea, and constipation would start around 10 pm and last until daybreak. Many times, over a few years, I fought with myself about going to the ER. But, I was trained by the medical system to just push through the pain and symptoms, because doctors had no answers, and asking questions only got me slapped with a “health anxiety” ICD-10 code. I didn’t want a big bill and a prescription for Pepto Bismol. Plus, my primary couldn’t figure out what was wrong as my labs looked ok. My alkaline phosphatase (ALP) was only 32 U/L with a range of 31-125 U/L, with 3 gallstones playing pinball after every meal, when it should have been 3-4X the high limit with my obstruction. An ultrasound was ordered, and I had surgery to remove the offending organ. My ALP promptly fell to 25 U/L. When I asked about the flagged results, I was told that as long as it wasn’t high, everything was normal. That word again. I quit asking.
Life changed when my husband and I applied for an IVF grant in 2024. Growing older and with my husband’s XXY Klinefelter syndrome, we needed help. We weren’t chosen, but I received the gift of diagnosis 38 years delayed and misdiagnosed during genetic carrier screening. They also found the uterine fibroid (that I was told from a previous gynecologist was a polyp they had removed), which made me anemic and put me in as much pain as the gallbladder attacks. Another surgery.
As I healed from surgery, I processed the diagnosis and researched HPP like a madwoman. I felt like Hermione Granger researching in the restricted section of the library as everything suddenly made sense. This led me to Soft Bones, their Facebook group, and their invaluable resources. Everything I’d been through suddenly fit, even fibroids are more common in women with HPP.
The support of the Soft Bones community made going from genetic diagnosis to clinical diagnosis much easier. I was referred from genetic counseling to a large teaching hospital’s endocrinology department. They aren’t that experienced with HPP patients yet, but they have been amazing. Having a physician believe you and learn about your disease is healing. They helped me get insurance approval for Strensiq®, an enzyme replacement therapy in the form of self-administered injections. I’m two and a half months in and already noticing differences. I jokingly call myself an “enzyme addict”.
I’m still a medical unicorn. I don’t fit the current top Google definition of HPP with my single, dominant mutation. However, I am just as much the face of HPP as those with severe forms. It just took me longer to get noticed in the herd because my symptoms don’t shine as brightly as theirs to physicians. Soft Bones is working to change that.
I’m grateful for the life I’ve lived and everything I’ve accomplished despite this disease. Backpacking trips, horseback rides, off-road adventures, and gold mining, to name a few. Yes, I was always last because I was slower, but it allowed me to walk alongside others who were also struggling physically on the trails.
After all, light shines the brightest in the darkness.
Keep asking.
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