The fight of a lifetime

Rita with her proclamation from the governor.

Rita Bettis has XLH, sometimes called X-linked hypophosphatermia. It is a whole body whole life disease. XLH is hereditary and affects children and adults. It is a rare disorder that occurs in anywhere from 1 in 20,000 to 25,000 people. People with this disease are sometimes referred to as having genetic rickets. Their legs are bowed and they are shorter than most people. That’s Rita. And for most of her life she has spent her time dealing with the problems this disease can cause and now she is educating people about the disease itself.

While some people may think that XLH is only a childhood disease, adults with XLH continue to experience the effects of un resolved symptoms. In a child, they have delayed growth and delayed walking. In both child and adult there is short stature, softening of the bones, bone and joint pain, waddling gait and joint stiffness. Adults can also have fractures, inflammation of the joints and spinal stenosis.

XLH is an inherited disease, which means parents pass down the disease to their children. “X” in XLH stand for x-linked because the disease is due to the defect in the X chromosome. Females have two X chromosomes and males have both an X and a Y. A father passes down his X chromosomes to his daughters and his Y chromosome to his sons. Which means all his daughters will have XLH. Mothers always pass down an x chromosome which means their children will have a 50% chance of inheriting the disease, regardless of their sex.

Rita Bettis spends a great deal of her time on the phone lobbying for better health care for XLH sufferers as well as people with other rare diseases.

Health care also involves insurance which often is not available to people with rare conditions. Finding the right doctor or doctors can be a challenge and understanding can sometime be the furthest thing from people minds.

People with XLH and other rare disease are courageous. They don’t always fit in to the world as it is. But most of them make the best of it.

June is XLH awareness month.