My Story from Weak Bones, Strong Wills: The Stories of XLH

XLH is a rare metabolic bone disease. I was under contract to write a short story about Life with XLH for a book published by XLH Network, Inc., but now I am able to publish it to my blog. For more stories like mine you can purchase the book on Amazon or through the XLH Network webpage, where you can also learn more about this rare disease. ➡️www.xlhnetwork.org.

Bionic Women In Training

I was adopted as a baby. My adoptive parents, (or I call them Momma and Daddy) didn’t know what was in store for them, but it was a wild ride to say the least. God obviously had His hand in it, because I have the same color eyes as my Momma, I had the same birthmark mole on the back of my shoulder as her, and her whole family is oddly genetically very short. Huge blessings come in small packages? I believe this had a huge impact on me growing up, since I felt not so different from my family. Of course, I knew I was and I felt it in my bones for sure, but at least the stigma of being short stature was lessened to a large extent. I remember going to the hospital allot, after the initial diagnosis at age 2 with what they called Vitamin D Resistant Rickets (VDRR) (which I remember only vaguely, I remember going yearly to be exact). I remember the blood draws, though oddly enough, I don’t remember them bothering me that bad, I thought I was pretty brave (Don’t let me fool you though, it took an army to give me a shot in the derriere). I remember the wonderful nurses worked at Shriners hospital for crippled children in Dallas (why I became a nurse), and most of all I remember Dr. Worthington, the Doctor who I would see nearly every time I went. I believe he was metabolic bone doctor, endocrinologist, not sure, but he was great and I actually looked forward to seeing him every year.
The greatest impact I remember from the disease when I was young, was pain, my legs aching when I would have to complete the mile walk for physical education in school. I am pretty sure that the physical education teacher though I made it up, but I took longer than everyone else and I tried. It wasn’t what I wanted, because I remember wanting to be faster. Wanting to be stronger. I think this is when my fascination with super heroes started. I wanted to be the bionic women so bad! As my mother can attest, I never let it slow me down, when I was little, but it did affect walking, running, and jumping. My mom put me in dance glass and I remember be really good at gymnastics, but I could never jump as high as the other girls and it made me mad! Being in dance class ended up bringing another blessing. My dance teacher heard me singing to some of the songs the older girls were dancing to, and was like, “You can sing?”. She told my mom and that is what started my singing career, though I never became “famous”, it has brought me blessings and was instrumental in the self-esteem department. Slowly but surely dancing and gymnastics became more difficult and it came to a complete halt when I started having severe pains in my neck and my left leg. All the orthopedic doctors could see was an osteochondral defect in my spine. Later in life this would be significant, but I just waited for the pain to pass, as I learned to do often throughout my life.

The Person I Am Today

After I turned eighteen and was released form Shriners hospital, I, for the most part, tried to ignore that I had anything wrong with me. XLH was not about to let that happen, and during my first pregnancy, I had my first bought with abscessed teeth. I suppose my body was unable to handle the amount of phosphorus or Vitamin D 3 the baby was taking from me. Either way, it was not good. I came to find out that my teeth would be a serious issue for the rest of my life. I never had a cavity, but I had abscesses. How does that happen? The culprit, defective Dentin in my teeth from guess what, XLH. During my pregnancies in my 20’s I was put on Rocaltrol, though there isn’t much information on how safe it is, and both of my children were born healthy. I was told that a C-section would be required for both kids because of my ischial spines in the pelvis being too close together, though I don’t know if that is true.
It wasn’t until 2001 that I would find out that I was not just ok and as normal as I wanted to be. My husband, kids and I had moved back to West Texas and I was working at the hospital on Orthopedic floor and noticed my lower back aching pretty regular. I went ahead and scheduled an appointment with a PCP and went in for my initial visit. I mentioned that I had XLH and told her about the pain. She seemed to think the fact that it was “banding pain” was significant, so I agreed to get an MRI. I then went back to work where I attempted to left a bilateral amputee by myself and was then completely out of commission. On the same day I received a call about my MRI. I needed to be referred to an orthopedic surgeon because the MRI showed absolute Stenosis in the L3-S1 region. Of course work comp was not thrilled that the back injury had aggravated my stenosis. They refused to acknowledge that is wasn’t muscle spasms, and actually some of the treatment, such as traction, they prescribed actually continued to worsen the symptoms. I fought for 2 years, but I eventually had surgery to remove the excess bone. It helped tremendously with the pain and I was able to get around my better. I have continued to have issues stemming from osteochondral defects in the joints, enthesopathy, and osteosclerosis.
During my ordeal with the back problems and surgery, I of course became an amateur XLH detective. I used to call it Vitamin D Resistant Rickets, but after becoming a member of the XLH Network, Inc., I found out it is called X-linked Hypophosphatemia. The network has been instrumental in assisting me with information and support through the years. There has been an increase of information and outreach regarding how the disease affects adults. There is a wealth of information on the comorbid conditions associated in adults with XLH, and questions are still being asked regarding the need for continued treatment with medications.
I truly feel like I wouldn’t be the person I am today if it hadn’t been for XLH. It has made me more compassionate and definitely kept me humbler than I would have been without it. It is true that I have weak bones, but thank God for the strong will, as it certainly is a requirement of an XLH life.

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