(Editor’s note: For Rare Disease Day, WebMD is featuring four personal stories from people living with rare diseases.)
By Jennifer Clopton
WebMD Health News
Gin Jones lives in Massachusetts and is a mystery writer. Jones, 61, has had a rare disease since birth.
Tell us about your condition.
I have a metabolic bone disorder called X-Linked Hypophosphatemia or XLH that affects one in 20,000 people .
It’s a genetic disorder on the X chromosome involving low levels of phosphorus in the blood. Usually it’s passed from one generation to the next, but my mutation wasn’t inherited. I am what is called a spontaneous case.
Patients with XLH have kidneys that dump phosphorus instead of sending it to our bones and teeth. They have excessive amounts of a hormone that blocks the kidneys from absorbing the phosphorus.
What was your life like when you were first diagnosed?
I was diagnosed at the age of three, but was fairly mildly affected by XLH as a child.
Most XLH patients are short, have soft bones and bowed legs. I am less than 5 feet, in an otherwise tall family, but my legs were only slightly bowed as a child. Some patients have extreme twisting and bending of their bones and are in wheelchairs, but I didn’t have major problems as a child so I didn’t think the disease was a very big deal when I was growing up. I was given the impression that there would be no additional long-term consequences.
My bones hurt sometimes but I just moved on with life. I went to college and law school and started my law practice. But in my late 20s, the aging process of my bones started to seem 20 years ahead of schedule and I developed arthritis like someone in their 50s.
What is your life like now?
By the time I was 45, I was having serious mobility problems. Now that I am in my 60s, I have the mobility and joint range-of-motion issues of someone in their 80s.
I can still walk, but do so with a cane. I have developed extensive calcification in my joints and spine so I feel pain pretty much all the time to some degree. It hurts to sit, stand – even to lie down, and I can’t climb stairs.
This certainly limits what I can do. I had to stop practicing law in my 50s due to pain and extreme fatigue. It was much sooner than I planned. But I am fortunate to have other skills, so now I work at my own slower pace from home, writing mystery novels.
Research also really gives me hope for both myself and future XLH patients. We used to think a cure could only come through gene therapy, which at the time was the stuff of science fiction. But in 2000, researchers discovered Fibroblast Growth Factor 23 (FGF23), a hormone that, among other things, regulates phosphorus. There is now a drug in phase 3 trials to render FGF23 inactive and allow proper absorption of phosphorus.
I finally have hope that an effective treatment will be developed in my lifetime.
What would you tell someone who is newly diagnosed with a rare disease?
Find a patient support group like the one I’m involved with, The XLH Network, Inc. Nobody knows about the condition better than people who live with it, and you can learn a lot from other patients. Sharing the experience with them can also help with the feelings of being alone and overwhelmed.
- Christopher Anselmo, Miyoshi Myopathy
- Alani Daniels, congenital generalized lipodystrophy
- Daniel Strong, Prader-Willi Syndrome
These stories were developed through a collaboration of WebMD and NORD. For more information on rare diseases, please visit: https://rarediseases.org/
For Instagram profiles of doctors who are tackling rare diseases from WebMD’s sister site, Medscape, click here.