A Sudden Change

Learn More About TIOAt 50 years old, I was a healthy, strong workaholic – until everything changed. The last time I’d seen a doctor was when I was in my mid 20s. When I reached 50, I began to have pain throughout my body, in my muscles, joints and bones. After a couple years it got to the point where I could not walk. I sought out a doctor and received many x-rays, nerve tests, and MRIs. Ten doctors later I was told that there was nothing wrong with me and that I was getting older and could not deal with the pain that typically starts when you get into your 50s.

Not knowing much about the medical field but being a fast learner, I realized I had not seen an orthopedic doctor yet. So, I made an appointment, got x-rays, and within minutes they found out I had two fractured femurs. The fractures were straight across at the ball of the femur. I was told that I needed emergency surgery and that I would need rods placed in my femurs so they would not break any more. For the next three months, even more pain caused the doctor to recommend a hip replacement. While trying to remove the rod in the right leg, he broke my femur all the way to the knee, forcing him to stop the hip replacement – off to find another doctor.

The Progression of Pain

The next stop on my journey was to the University of Michigan. I saw the chief of orthopedic surgery and in the next few months I had the two femur rods removed and a new hip implanted. After that, it was time for physical therapy, two hours every day. My back was hurting and my ribs started with a lot of pain. I kept hearing the phrase “no pain, no gain.” But the pain would not go away. I continued to see other doctors and received CAT scans, more x-rays and more MRIs. I got 20 shots in my back over the next couple months, only to be told I needed more therapy. The doctors could not find anything and suggested an implanted spinal cord stimulator to trick my brain into thinking I wasn’t in pain. The next year of my life was the worst yet; the stimulator caused even more pain in my back and ribs.

Throughout all of this I became depressed and was on medication for depression, which I was against, but was told I really needed it. All the pain and continued therapy made me think dying was the only way out. By this time, I was convinced that I was crazy and I would have to live like this for the rest of my life.

I went to see even more doctors and now they did a bone scan; I had to be put asleep while doing the scan due to too much pain. When I woke up I told my wife I thought they dropped me because there was still more pain in my back legs and ribs. For the next few days, I was in so much pain that it was the first time I refused to do therapy. I could not move there was so much pain. I went to another hospital system and after a week in there they ran more tests, only to find out I had 10 broken ribs, fractured ribs, femur and some breaks in my spine. From there I went back to the University of Michigan and the bone specialist started running more tests.

A Lifesaving Catch

It was seven years and 100 doctors later and there was finally proof that I had all those broken bones. At that point, the bone doctor sent me to an endocrinologist. The endocrinologist ran some blood work and found that I had a rare disease, Tumor-Induced Osteomalacia (TIO). They found the tumor right away because it was the size of a silver dollar. It buried itself in my left scapula.

“Today, I am much better; I still have some broken bones, but I go next month to see how my bones are and look forward to continued improvement. I was lucky to find a doctor that knew about TIO because I was slowly dying a painful death. This is why I am willing to talk about this disease and help raise awareness.”

Tumor-Induced Osteomalacia (TIO)

Tumor-induced osteomalacia (TIO) is a rare disease typically caused by slow-growing tumors, which produce excess amounts of FGF23, a protein that regulates phosphate and vitamin D, both of which are important for bone health.

Tumors that lead to TIO are often located in the extremities (for example, a hand or a foot). A tumor that leads to TIO is unlikely to spread, but can be difficult to locate by X-ray or MRI. People with TIO may experience muscle weakness, fatigue and bone pain.

Finding and removing the tumor through surgery is currently the most effective treatment for TIO since these tumors rarely spread. There is a small chance that TIO could come back, or recur, with the growth of a new tumor.

Some people use phosphate supplements and calcitriol (a form of vitamin D) to manage their symptoms.

Ultragenyx is studying investigational KRN23 for the treatment of TIO in cases where tumor removal is not possible or is incomplete.

Other names for TIO:

  • Oncogenic osteomalacia
  • Oncogenic hypophosphatemic osteomalacia