Bone Marrow and Lung Transplants Treat Rare Genetic Condition

A rare genetic condition required two transplants — and the expertise of a multidisciplinary team.

By the time Vicente Samano was referred to Keck Medicine of USC in 2021, he was exhausted and depressed. Though only 33 years old, he had been living with chronic fatigue, weakness, persistent nausea and blurred vision for five years.

Vicente had seen doctors near his home in Bakersfield, in Northern California and across Southern California. They all agreed that he had anemia and needed frequent blood transfusions, but none could put a name to his illness.

“I was getting blood transfusions and tests — so many tests — but I never felt good,” he says.

He ultimately learned that he had an extremely rare genetic condition called dyskeratosis congenita and was referred to Keck Medicine for treatment.

Getting diagnosed

Dyskeratosis congenita is most often diagnosed among children and often because it causes unusual skin pigmentation and nail discoloration, which Vicente did not have in the beginning.

Eric Tam, MD, a hematologist with USC Norris Comprehensive Cancer Center, part of Keck Medicine, notes that dyskeratosis congenita makes people more likely to develop a wide range of serious health problems, including several types of cancer, and that it almost always affects the blood.

“It is predominantly a disease of the blood, and when it does affect the blood, low blood count and myelodysplastic syndrome — a type of blood cancer — are among the first things you see,” Dr. Tam says.

Dyskeratosis is difficult to diagnose, and it also requires complex care that Vicente was only going to get at an academic health system such as Keck Medicine, Dr. Tam says.

The doctors at Keck Medicine were so awesome and so amazing.

Vicente Samano, patient, USC Norris Comprehensive Cancer Center

Though the disease usually attacks the blood and skin first, it has no cure and can strike any part of the body. Taking good care of these patients requires collaboration among physicians from different departments and an understanding of these patients’ unique needs.

The first transplant

By the time Vicente saw Dr. Tam, he had developed myelodysplastic syndrome and needed a bone marrow transplant, which he received in 2021.

Preparing Vicente for the transplant required extreme care because his condition makes his body more susceptible to the effects of some therapies, such as chemotherapy and radiation, which are administered prior to a bone marrow transplant.

“I felt different almost immediately after the transplant and was walking better and had more energy,” Vicente says. “Six months later, I felt like a new person.”

A second transplant

Dr. Tam notes that the Keck Medicine team has some of the best bone marrow transplant outcomes in the nation. But while Vicente’s bone marrow transplant was successful, he started having difficulty breathing about a year later and developed pulmonary fibrosis, another common problem with dyskeratosis congenita.

In the spring of 2023, Vicente was admitted to Keck Hospital of USC for a lung transplant.

During his stay, Dr. Tam says it took a team of hematologists, pulmonologists and transplant surgeons all working together to prepare him for surgery and to help him recover from transplant surgery. He noted that Vicente’s condition can slow healing and make people more susceptible to infections and so requires more vigilant care.

“It is gratifying to see Vicente emerge from his surgeries with these good outcomes. I attribute part of this to the true multidisciplinary care our experts provide, closely coordinating and collaborating to optimize treatment,” Dr. Tam says. “This level of care sets us apart.”

On the road to health

These days Vicente is back at home and is feeling like himself again.

It is possible that Vicente will have additional complications from his disease down the road. If he does, he says there is only one place he would consider going for treatment: Keck Medicine.

“The doctors at Keck Medicine were so awesome and so amazing,” Vicente says. “We are so grateful for everything they did.”

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