Cells are the building blocks of life, and connective tissues are the structures our bodies use to hold those cells together.

Maria Descartes recently was awarded a $120,000 grant from the UAHSF General Endowment Fund for the creation of the Bone Dysplasia and Connective Tissue Disorder Clinic for Adults and Children.

The formation of the new Bone Dysplasia and Connective Tissue Disorder Clinic for Adults and Children provides integrated care for patients with anomalies in these functions and gives them a place to find help to battle this often painful disease.

“The goal is to approach the patient as a whole and minimize and improve their quality of care,” says Maria Descartes, M.D., director of the clinic. “The clinic will enable us to follow patients, before birth and through life. We can follow them through childhood into adulthood and help them transition into each stage of life as smoothly as possible.”

The result will be improved quality of life for patients and an opportunity to better understand the natural history of the complicated disease for health-care professionals.

“The information we can gather about how they progress and the complications they have is endless,” Descartes says.

Grant funds clinic
The University of Alabama Health Services Foundation General Endowment Fund recently awarded a $120,000 grant to Descartes to create the clinic, the first of its kind in the Southeast.
Connective tissue disease isn’t something that receives much coverage in the mainstream media, despite the fact that an estimated 1 million Americans may have a connective tissue disorder.
UAB’s expertise in the Center for Metabolic Bone Disease, the Osteoporosis Prevention and Treatment Clinic and the Bone Densitometry Service is one reason the institution is well positioned to lead in the treatment of patients with connective tissue disorders.

More than 400 disorders impact the structure and function of connective tissue or bone structure and many of them can be lethal.

Some of the symptoms of connective tissue disorders include:
• Bone growth problems
• Bones too long or short
• Joint looseness or tightness
• Stretchy or loose skin
• Skin folds
• Blistered skin
• Weak blood vessels
• Tallness or shortness

Some disorders, like Achondroplasia or Ehlers Danlos, have a known genetic cause. In other disorders, like osteopenia or lupus, there may be genetic factors that predispose to their development. Still other disorders of collagen may be the result of infection or injuries or have no known cause. These disorders may involve hormonal, metabolic, structural and other abnormalities that are often difficult to determine as well as to treat.

Because of this, patients with connective tissue disorders require specialized medical care. Physicians will be better able to consider the many variables in diagnostics, intervention and research by combining their resources and knowledge to care for patients, Descartes says.

“What we have encountered in many of the children we see is that they go to a rheumatologist, an immunologist and others, and they still don’t have a defined diagnosis,” Descartes says. “I think this clinic will help.”

Descartes says the support of Jay McDonald, M.D., director of the Center for Metabolic Bone Disease, and Sarah Morgan, M.D., director of the Osteoporosis Prevention and Treatment Clinic, is crucial to providing the care the clinic strives to give to its patients.

“Dr. McDonald and Dr. Morgan have really encouraged me and encourage further development of this clinic,” Descartes says. “They are very interested in participating, and I think that will be fantastic for the whole system. It means we will get an involved group of specialists that can be available, enabling us to provide prompt care. That’s the goal.”

Contact Debbie Austin at 934-1154 to schedule an appointment.