What I Thought I Knew About XLH

The first time I remember feeling different from other kids in school, was when a classmate in third grade made the comment “You walk like a Penguin!” A few of the other kids giggled and from there my new nickname was Penguin. Thankfully I think Penguins are adorable and the teasing didn’t last long. I tried to laugh it off and not let it get to me, as I knew the kids who said it were being playful, not malicious. But, it was an acknowledgement that I was different from my classmates, and being different didn’t feel great when I was young, trying to fit in. 

My Mom, who has battled XLH her whole life, was very diligent in having my sister and I tested for XLH from day one (Rickets was the only name we knew at the time). Our pediatrician would do blood work annually to check our phosphate levels, but nothing suspicious ever turned up, though my Mom still felt there was something different about me. Physically my left leg became bowed the older I got. I had the telltale waddling gait that slowed me down in sports, and was the shortest person in the class year after year. But, the doctors continued to assure my Mom that my phosphate levels were fine and never offered any further testing.

Looking back, I never felt like I missed out on anything during my childhood, enjoying all the things I loved like music, sports, running around with my friends, even if I was the slow one. “Good things come in small packages” my loved ones tell me, and life went on without a care for years, until the pain in my left knee became hard to ignore.

At the age of twelve my mother demanded more bloodwork and finally my phosphate levels showed a huge drop (likely triggered by puberty), and my pediatrician referred me to a specialist. After the first meeting, the Endocrinologist diagnosed me with Rickets (as he called it), prescribed me Phosphate and calcitriol, then referred me to an Orthopedic Surgeon. Things moved quickly and before I knew I was being booked for a full Osteotomy on my left leg. I remember feeling scared, but it was impossible to understand the extent of what was going to happen, until it did. I vividly remember being wheeled away from my Mom in tears, scared to leave her side as they took me through a maze of doors and hallways until we reached the operating room. I clutched my teddy bear for dear life as they put the mask over my mouth and I drifted off to sleep.

It was a long process to heal from the surgery. They broke my Tibia and Femur, using bone from my hip to straighten my leg and then used pins and rods to hold it all in place. I was in an enormous amount of pain when I woke and saw my leg wrapped up in the big bulky cast. The nurses showed me how to work my morphine pump that was strapped to my hand, thankfully it had a controlled dose setting on it, cause I laid there pressing that button non-stop until I’d doze off again. After several weeks at home, I felt strong enough on my crutches to return to school. My friends were awesome, taking turns meeting me at the front doors of the school to help me get to my class. After taking a nasty fall, they started wheeling a computer chair to the foyer to pick me up. With all the support in my life, I was able to keep smiling and try to make the best of my challenging situation.

As the years went on I was seen annually for check ups but didn’t need any more surgical intervention. It was easy to move on as if nothing had happened once I regained my strength. I continued taking the disgusting medicine at my mother’s insistence, played sports, worked out at the gym, fought through the pain I’d feel at the end of every day, accepted the fact I’d be called “Shorty” for the rest of my existence, and lived a normal teenage life. My Mom has always been a warrior in life and her battles with the disease, powering through some really hard times with a positive attitude, and I’ve always wanted to make sure I never let this disease define me either. 

After leaving home at eighteen, I wasn’t taking my medication as many times a day as I should have. My husband (who was my boyfriend at the time) hardly heard me talk about my bone disease, or saw me take my medicine, and would rarely hear me complain about the chronic pain I was beginning to experience as my left leg began to bow again. It wasn’t until I reached the age of twenty-four that he might have realized the severity of what I was dealing with, as my left leg began to deteriorate to the point of needing a custom brace on my leg to support it while I waited for another corrective surgery. Instead of repeating the same osteotomy as before, the surgeon suggested they remove my existing hardware and affix a spatial frame. It sounded like a torture device, but the doctor insisted it would have a better outcome, and I reluctantly agreed to go through with it.

It was unnerving to wake in the recovery room with the spatial frame around my leg, holding my leg permanently in suspension. It all started to hit me that this is how I was going to live for the next several months. I was filled with a sense of dread but put on a brave face for my loved ones hovering by my side. Everyday for the first few months I had to follow my sheet of instructions and turn the dials on the frame until the rods slowly moved my bones into a straighter position, bit by bit. The pain is so immense each time you move those dials, it takes your breath away to feel the pressure on the bone. I did get good at using crutches though, and for nine months they were an accessory I couldn’t live without.

Shortly after recovering, I found out I was pregnant with our first born son, and immediately contacted my Endocrinologist who increased my phosphate from four to six effervescent tablets a day, and referred me to Genetics at LHSC in London, Ontario to start the application for genetic testing for when Jayden came along. She also advised my General Practitioner to send me to an OBGYN sooner rather than later. As a woman standing just under five feet tall, my belly grew enormous, creating a compressed sciatic nerve in my lower back which made it hard to walk around. Pregnancy was a challenge for me, but I made the best of it, knowing there were more challenges ahead. My OBGYN and I decided it was safer that Jayden was born via C-section at 37 weeks gestation.

I was a bundle of nerves waiting around that morning as we sat in my hospital room, knowing we were merely minutes away from meeting our baby. Due to my doctor’s advice to avoid an epidural, I was put under general anesthesia for my C-section. At 8am on Monday August 27th 2012, they wheeled me to the operating room while my husband was left to wait outside, and Jayden Jozua Steenbergen entered the world at 6lbs 14oz, 19 inches long, with his dark brown hair, big brown eyes and cute button nose. I remember waking in recovery several times, insisting I was ready to meet my baby, but unwillingly kept dozing back off to sleep. Finally at 10am I was wheeled back up to my hospital room and given my precious baby boy. I remember feeling overwhelmed with love and joy, but when the Pediatrician entered to take his blood for the first time, It filled us with a sense of dread, and they finally told us his phosphate was horribly low.

Jayden’s legs were visibly bowed right from birth, and the doctors tried to assure me it was normal, but it wasn’t long until genetics confirmed the already anticipated news that he has Rickets (or Hypophosphatemic Rickets they called it). They started him right away on liquid phosphate, and I’d have to poke a calcitriol pill and squeeze it into his food or his mouth because they didn’t have anything suitable for infants to take. It was a whole new world for me when Jayden came along, XLH was no longer just my battle and I couldn’t pretend it didn’t exist anymore. I was heartbroken and worried about what his future looked like, knowing it could be more severe for boys with this disease.

He was a tiny baby, and remained that way, causing all the doctors to tell me there was something wrong with my breastmilk, that I needed to feed him more, even though Jayden was perfectly content and feeding at the expected time intervals. As a first time mom I didn’t argue though, and began supplementing formula along with pumping and breastfeeding. I don’t think I was prepared for how much of my body I’d truly sacrifice during the process. It was an emotional rollercoaster going to check ups and seeing him thrive in my eyes and then have the doctor’s tell me he was too far under the curve for their liking. I remember a lot of worry during that first year of his life. As he began to walk his bowed legs got worse, and by age four the surgeon told me it was time to start using 8-plates to help guide his growth to be straight. And every year since Jayden has had surgery on both of his knees, alternating the 8-plates back and forth to guide the growth, resulting in much straighter legs, though he will one day need full osteotomies on both legs.

For as heartbreaking as it is for me to go through each time, Jayden is a total warrior, rarely becoming emotional or stressed, except when it’s time to say goodbye to mom once he’s settled on the operating table and it’s time to go to sleep. It’s a heavy feeling to watch your baby go under anesthesia and then have to leave the room immediately after, trusting that he’s in good hands. I’m forever grateful for the doctors and Child Life Services at LHSC, who make sure all families have all the support they need to handle the emotional tole these procedures can have on the little ones and their parents. 

Jayden has had so many teeth removed due to spontaneous abscesses, we lost count at ten, and it all started when he was three years old. I remember our family dentist making comments about how I needed to brush better, though I was doing a thorough job with my growing paranoia. There were never any cavities, but the dentist didn’t seem to understand this was a problem related to XLH. It was a frustrating process, but thankfully he knew a specialist needed to assess the situation in a more suitable environment, but that opened up a whole other world of stress for my husband and I. We went through two specialists who charged us for every little thing they could milk us for before we found our current specialist who runs a much more ethical practice out of Victoria Hospital. Since starting Crysvita in June 2020 we have seen a complete halt to the spontaneous abscesses, and have even seen some delayed adult teeth come through finally at the age of 8.

Until I had Jayden, I had always been able to keep my bone disease on the back burner and pretend it wasn’t really there. But he lit a fire within me I didn’t know existed, and he’s helped me become an advocate for his health and my own, which helped me feel ready to bring another child into the world, even with that 50/50 chance of the mutation occurring again.

Along came Adrian Melvin Steenbergen on April 27th 2015 (The number 27 is a special one in our house). Adrian entered the world in a very similar fashion as his big brother, scheduled C-section, all alone in the operating room, but this time at 38 weeks. I missed the first couple of hours of his life in the recovery room, while my family soaked up all the snuggles. I remember the first time I laid eyes on him, I thought he looked so squishy and perfect, a healthy 8lbs 3oz. When I got the first chance to unravel him from his baby cocoon I looked at his legs which were perfectly straight and sighed in relief. Even when the pediatrician took his blood, his phosphate levels were normal yet on the lower end of the scale, however hearing the word normal gave me hope that Adrian might have lucked out. Genetics sent off his blood and it came back positive for the mutation a couple of months later. It was devastating to hear the news. It was hard to work through all the emotions and the concerns of what lay ahead for Adrian. Like any case of XLH we didn’t know what the severity would be.

With myself and two kids on phosphate and calcitriol, I powered through, regaining my emotional strength to conquer whatever lay ahead. It helped that this was my second child with XLH, knowing what to expect with frequent doctor’s appointments, frustrating growth charts, needles and exams, giving me a stronger voice for the three of us. Just when I thought I had a reasonable knowledge of our bone disease, we were accepted to be seen at the Shriners Hospital for Children in Montreal, Quebec in early 2019, which felt like winning the lottery to our family. They are a special hospital working with some of the world’s top researchers, unbelievable state-of-the-art technology, and doctors who work solely with rare bone diseases. It was our first time meeting doctors who treat other patients with XLH, and have an in-depth knowledge of X-linked Hypophosphatemia. It was also our first time hearing about this new drug that had been approved in Canada called Crysvita (Burosumab, subcutaneous injection), the first ever human monoclonal antibody drug that treats the direct cause of XLH and can give us all promising future. But, sadly the cost was enormous (Millions of dollars a year for our family) and they warned it could be at least a couple years before the kids are eligible to receive some sort of public funding. The adults would be the last to get approved if at all. The bittersweet news sent us home with mixed emotions. To have to watch my health or children’s health deteriorate due to a price tag crushed me. But, I tried the swallow the frustration and did my best to focus on the positive side of things, knowing my children one day could potentially have this magical drug.  

One random day a month later, my Endocrinologist sent me an email inviting my mother and I to attend the first ever XLH meeting in Canada that she was hosting in Hamilton, Ontario with another Doctor out of Toronto. We are forever grateful we went, finally meeting others with XLH for the first time, outside of our immediate family. We spent a few hours with the small group consisting of XLH’ers, caregivers and healthcare professionals, learning about XLH, Crysvita and how it can help, as well as sharing our stories and struggles with each other. It was a powerful day for my Mom and I. Before we left the meeting we were all making plans to meet up again on our own, which eventually helped us form the Canadian XLH Network. 

What I thought I knew about XLH has evolved greatly, and will continue to do so as more of us share our stories with each other, uniting with the XLH community within our country and around the globe. So many little moments have led me to these bigger life changing ones, and attending that XLH Meeting in Hamilton as well as joining the Canadian XLH Network, has altered the course of my family’s future. In 2019 my Mom, as well as my two sons and I have joined a 10 year XLH study at the CHEO Hospital, where they will track the progress of hundreds of Canadian families living with XLH, gathering important data to help the future of our healthcare. As of 2020, my sons and I have access to Crysvita in our household, and though it was a long fight to get it through compassionate care access, then eventually private insurance, it’s making a big difference in the quality of our everyday lives. Due to the damage XLH has done to my body, I struggle with Osteoarthritis throughout my body and will need more surgical intervention one day soon to correct more deformities. But, the future looks much brighter for us all, and I’m eternally grateful to be in this position now, able to connect with other XLH’ers and caregivers.

It’s my wish as Vice Chair of the XLH Network, to see that Canadians of all ages gain access to Crysvita, and make sure our XLH community along with healthcare providers have a better understanding of the disease and treatment options available. We truly are stronger together.          

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