“Mrs. Fry’s lifelong hope was that others who are afflicted with Osteopetrosis (including her sister, one daughter and two grandsons) will not have to suffer as she did. Therefore, in lieu of flowers, she and the family request that donations be made to the International Osteopetrosis Association (www.internationalosteopetrosisassociation.org) ...”

At the bottom of Linda Fry’s obituary, a slight nod is made in the direction of the light that came out of a hereditary family tragedy. For years, her daughters, granddaughters, sisters, husband and loved ones had to watch as disease ravaged Linda’s body. The disease was passed down genetically to one of her daughters and two of her grandsons.

This devastating illness, also known as Marble Bone Disease, is an extremely rare, inherited disorder caused by mutations on the CLCN7 gene, whereby the bones harden, becoming more dense.

In sufferers of this disease, old bone tissue is not destroyed and removed from the body. This results in bones that are denser and more brittle than normal bones.

Mild forms of Osteopetrosis may cause no symptoms and present no problems; however, more severe forms can result in stunted growth, deformity, increased likelihood of fractures, bone infection, enlarged spleen, kidney problems, anemia and other blood issues. Osteopetrosis can also lead to blindness, facial paralysis, and deafness due to increased pressure put on the nerves by the extra bone.

Most families would resent that this disease had wreaked such havoc on their everyday lives. They would resent that they had to watch their mother transform from a raven-haired beauty with piercing eyes to someone who just needed to be made comfortable until God decided to take her pain and suffering away. They would resent having to watch all of this happen to their grandmother, knowing that in only a few years it would begin to happen to them.

But not this family.

“The bright light in everything that we’ve had to go through is the foundation,” Kristi Kuhn, daughter of Linda Fry, said.

The International Osteopetrosis Association’s mission is to support research that is committed to finding treatments and cures for disorders in bone metabolism and to assist those who are afflicted with such disorders, with emphasis on those who have autosomal dominant Osteopetrosis. They are committed to funding medical and scientific research, educational programs and creating forums for the exchange of ideas in order to benefit those with such disorders.

A very generous man, who prefers to remain anonymous right now, made a very large endowment in 2006 that allowed the foundation to get started. This man intends to support the foundation on an annual basis, along with fundraising that the association also does.

Beth Miller, Linda’s daughter, is the association’s president.

“I have a B.S. in Child Development and Family Science (CDFS) with an Early Childhood and Kindergarten Education license. I have close to 20 years teaching experience and recently added an elementary education license to my resume,” Miller states on the Association’s Web site. “I was asked to be President of a newly forming charity to support research and families with the autosomal dominant form of Osteopetrosis. What were my qualifications for the job and why would I be interested in taking on this project? The reason for this is that I have become a self-trained expert of this disease out of necessity. My education of Osteopetrosis has been building over the last 42 years. My (deceased) maternal grandmother, (deceased) mother, aunt, sister and two sons are all affected by this dominant form of Osteopetrosis.

“Much of what I have learned I have learned from personal experience, by watching my family members cope with this rare genetic disease. I have been exposed to people with this disease my entire life. I am a genetic carrier of this disease. Ten years ago my oldest son was diagnosed with Osteopetrosis. Within the same year my second of three sons was also diagnosed. That year I decided it was time for me to become the student again. I began studying everything I could about this disease, so that I could become a competent decision-maker for my sons. I was well aware that because of the rareness of this disease that this would be no easy task.”

As Osteopetrosis is a rare disease, not a lot of information is readily available for its sufferers, and most doctors are not educated enough to diagnose and treat it properly.

“My goal as the president of IOA is to give this disease a voice. I plan to drive education and research towards finding a greater understanding of bone metabolism and developing medications to treat patients with Osteopetrosis more effectively,” Miller said. “It is also my hope to provide a place for patients diagnosed with Osteopetrosis to turn to for understanding and knowledge.”