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The family had just received devastating news: Their six-year-old, until recently a normal, healthy child, had metachromatic leukodystrophy (MLD), a rare genetic disorder that causes progressive damage to the brain and other organs.
But the child’s parents looked relieved. For weeks they had seen a succession of doctors who had been unable to tell them what was wrong with their child. “At least now we know,” said the father.
Helping families understand the diagnosis they have just received is an important part of Deanna Steele’s job as a genetic counselor at the Center for Rare Disease Therapy at UPMC Children's Hospital of Pittsburgh. “Families are just so grateful to have someone explain the genetics of the disease to them,” she says.
Deanna graduated from the University of Pittsburgh in 1986 with a master’s degree in human genetics and a specialization in genetic counseling. She is a licensed genetic counselor and is certified by the American Board of Medical Genetics in Genetic Counseling. Prior to joining the CDRT in June 2017, she worked for many years as a genetic counselor at UPMC Magee-Women’s Hospital.
Deanna may be the first person a family reaches when they contact the Center. The family may live elsewhere in the United States or on the other side of the world. They may have already received a diagnosis for their child, or they may not. What they all have in common is a very sick child and a need for answers.
“When I speak with a family, my first questions are: What are they looking for? And how can we help them?” Deanna explains.
If the family is seeking a consultation for their child at the Center, Deanna coordinates the logistics to make that happen: obtaining the child’s medical records, steering the family to sources of financial assistance if necessary, helping to arrange housing for families traveling from out of town or out of the country, determining which medical specialists should see the child, and scheduling appointments.
Understanding the specific ways that a particular rare disease affects the body is key to deciding which CRDT specialists should see the child. For example, a child with MLD may be scheduled to see a genetic-disease specialist, a brain-disease specialist, a child-development specialist, a hearing specialist, and a physical therapist. Even when, as with MLD, no cure exists for the disease, it is often possible to treat symptoms and achieve some improvement in the child’s functioning and quality of life. In some cases, a child may be eligible to participate in a clinical trial of a novel treatment for their disorder.
What makes the CRDT special, says Deanna, is the shared commitment of all of the physicians and other health professionals to multidisciplinary care. Specialists with different areas of expertise will often sit down together around a table to discuss the possible benefits and risks of various approaches to treating a particular patient.
“It’s great to see people from so many specialties coming together with the goal of offering the best possible care for this individual patient,” says Deanna.
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
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Interested in giving to Children's Hospital? Visit Children's Hospital of Pittsburgh Foundation's website to make a donation online.