Barbara Holzrichter's health problems began when she was just a small child. While growing up, she suffered from frequent skin lacerations, unexplained bruising and distorted joints in her feet. These problems continued into adulthood. Nevertheless, she raised a family, managed a successful business, traveled, gardened and cooked.

Eventually, Barbara was diagnosed with Ehlers-Danlos Syndrome (EDS), a rare genetic disorder that affects about 1 in 5,000 to 1 in 10,000 people. EDS causes a defect in collagen, the protein responsible for maintaining the strength and elasticity of the body's connective tissues. The connective tissues support many different body parts, including the skin, muscles and ligaments. Because EDS patients have defective collagen, they suffer from a variety of symptoms, including fragile skin that bruises and scars easily, and loose, unstable joints prone to dislocation. Although most forms of EDS are not life-threatening, some subtypes can cause blood vessels and organs to burst.

There is no cure for EDS. Most people affected with EDS can live relatively normal lives, but must avoid activities that might cause their joints to overextend or lock. They must also limit sun exposure and avoid slips and falls. When these precautions fail, surgery is often needed to correct fractures and dislocated joints. Surgery on EDS patients is more difficult because it must be performed with staples or tape to avoid tearing the delicate skin and soft tissue. Strength is severely compromised.

Barbara was careful and tried to avoid situations where she might be accidentally bruised. She did not lift heavy objects and avoided putting stress on her hands and feet. Barbara's precautions worked fairly well until one day in 1995 when she detached a ligament in her right index finger while opening a window. Due to her condition, this seemingly small injury turned into a major problem. Barbara was unable to do any activity that involved the use of her right hand--no cooking, gardening or lifting. She was not even able to pick up her grandchildren.

Barbara was unable to obtain any relief from standard surgical methods, which had been tried and failed. Finally, 10 years after her original injury, she met Edward Diao, MD, an orthopaedic surgeon specializing in hand disorders. Dr. Diao had researched techniques of strengthening the connective tissue by using internal sutures. He adapted these techniques to strengthen the ligaments in Barbara's hand and also installed an artificial pyrocarbon knuckle in her finger. Immediately after her surgery, Barbara experienced a significant improvement in the flexibility and stability in her finger. She is now able to write, cook, garden and play with her grandchildren once again.

Barbara's story illustrates the issues people with rare diseases face in obtaining health care. Diagnosis is often delayed; little research is available on treatments; and too often, cures are unavailable. Despite this, people facing these challenges do their best to manage their conditions and remain independent. As Barbara points out, enhanced research funding to investigate rare illnesses would prevent unnecessary hardship and enable many more people to be self-sufficient. Barbara is a beneficiary of past research on artificial joints and soft tissue strengthening in improving her hand. Barbara supports, and would greatly benefit from, future research to provide cures for genetically based disorders such as Ehlers-Danlos Syndrome.