New treatment gives life to young girl

Chloe Lundy and her mom Annie Lundy (sitting), with Chloe’s genetics team (left to right):  nurse practitioner Stephanie Offord (sitting), Dr. David Bick, Dr. William Rhead, Dr. David Dimmock, and genetics counselor Amy White.

Chloe Lundy and her mom Annie Lundy (sitting), with Chloe’s genetics team (left to right):  nurse practitioner Stephanie Offord (sitting), Dr. David Bick, Dr. William Rhead, Dr. David Dimmock, and genetics counselor Amy White.

The future of medicine is unfolding as advances in genetics are creating the ability to diagnose and successfully treat diseases that were untreatable in the past. Medical College of Wisconsin physicians and scientists are leaders in Wisconsin and the nation in developing new diagnostic capabilities and successful treatments tailored for individuals with genetic–based diseases.

Chloe Lundy is a lively four-year-old who loves to paint, play with other kids and swing to the sky on her swing set.

There was a time, however, when Chloe’s life was far from certain. Born with a rare genetic condition, Chloe is alive and thriving today because of a new treatment plan developed by Medical College of Wisconsin physicians based at Children’s Hospital of Wisconsin. She is now one of a handful of patients reported successfully treated in the world.  

Chloe’s mother, Annie Lundy of Dousman, calls Chloe a “miracle”. In 2008, Chloe was born with potentially fatal complications, including enlarged heart, muscle weakness and respiratory problems. She was transferred to the neonatal intensive care unit at Children’s Hospital, where she was seen by Medical College genetics specialist David Bick, MD. Following DNA and enzyme tests, Dr. Bick’s diagnosis was Infantile Pompe Disease, a condition in which a gene mutation causes the lack of an essential muscle enzyme. In the past, this condition was untreatable and babies would not survive their first year.

But Chloe was in the right place at the right time. Infantile Pompe disease is one of a number of genetic diseases treated by Medical College genetics specialists at the Lysosomal Storage Diseases Clinic at Children’s Hospital, the only treatment program of its kind in Wisconsin. The physicians were ready with the first specific treatment for Pompe Disease, a synthetic enzyme that had been recently FDA-approved for patient use. At 16 days old, Chloe began infusions of enzyme replacement therapy.

There were more life-threatening complications for Chloe. She has a variant of Pompe disease, known as CRIM negative, causing her body to reject the synthetic enzyme. At that point, Medical College pediatric hematology-oncology specialists, led by David Margolis, MD, worked with other specialists to develop an individualized chemotherapy treatment plan to suppress Chloe’s immune response just enough to allow the replacement enzyme to work. Chloe was among the first three patients in the world and the youngest to start the new treatment. After 19 months, the chemotherapy had succeeded and the enzyme therapy was working.

Orchestrating her care were genetics physicians William Rhead, MD, PhD, and David Dimmock, MD, as well as genetics counselor Amy White, MS, and nurse Practitioner Stephanie Offord, APNP. Chloe's condition involved the collaboration of multiple teams of physician specialists and health care providers from the Medical College and Children’s Hospital, including from cardiology, pulmonary, gastroenterology, ophthalmology, physical therapy, neuropsychology, special needs, and otolaryngology. Having this depth of expertise and resources available, along with early diagnosis and treatment, were vital factors in Chloe’s success.  

Today, Chloe is very active and the weekly enzyme infusions continue to save her life. This fall, she started kindergarten, marking another milestone.

Dr. Bick is Professor and Chief of Pediatric Genetics at the Medical College and Medical Director of Genetics at Children’s Hospital. Dr. Margolis is Professor of Pediatric Hematology-Oncology at the Medical College and Program Director of Bone Marrow Transplant at Children’s Hospital. Dr. Rhead is Professor of Pediatric Genetics. Dr. Dimmock is Assistant Professor of Pediatric Genetics. 

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