CHOC Becomes SCID Referral Center

CHOC Children’s is pleased to have recently become a referral center for severe combined immune deficiency (SCID), filling a regional gap that once required Orange County infants to go outside the county for care.

Led by Drs. David Buchbinder, Wan-yin Chan, Diane Nugent and Jasjit Singh, the immunodeficiency program is a multidisciplinary effort crossing multiple specialties at CHOC including allergy and immunology, hematology and infectious disease

Though they appear healthy at birth, infants with this primary immunodeficiency disease lack T lymphocytes, one of the white blood cells that help fight infections. 

Babies with SCID cannot fight even the most innocuous infections and often die. The condition is considered by the medical community as a pediatric emergency.

“Prior to development of SCID newborn screening, the diagnosis would be delayed,” Dr. Chan says. “Often times these patients would not get sick until after 6 months of age. No one would know they were affected until the antibodies from their mother would wane. They end up with life threatening infections with serious complications often resulting in death.”

However, studies show that early bone marrow or stem cell transplants can improve outcomes significantly, Dr. Chan says.

Survival rates increase to 94 percent if administered to an affected infant by age 3 ½ months. However, if transplants occur after that age, survival rates increase to only 70 percent, underscoring the importance of early detection and intervention. 

To that end, California became one of the first states to add SCID to its list of recommended newborn screenings in 2010. In the years since, all states have followed suit. 

Under CHOC’s program, immunodeficiency team physicians review each case of Orange County babies who test positive in newborn screenings for SCID and ask parents to immediately seek a confirmatory blood test for the infant, Dr. Chan says.

If the additional tests confirm the diagnosis, patients are urgently admitted to CHOC for workup and treatment, Dr. Chan says.

Since CHOC’s center was formed in August, more than 20 patients have been flagged in the surrounding communities and each individual case has been reviewed by the immunodeficiency team in collaboration with local pediatricians.

Those urgent blood tests confirmed the presence of SCID or a SCID-like disorder in more than 25 percent of cases thus far. 

September is National Sickle Cell Month

Sickle cell disease is an inherited disorder wherein the red blood cells are misshapen, and can lead to painful episodes and even hospitalization.  The disorder is usually diagnosed at birth during newborn screening tests.

In honor of National Sickle Cell Month, we spoke to Dr. Geetha Puthenveetil, a pediatric hematologist and director of blood and donor services at CHOC Children’s, about the multidisciplinary care and other resources available to sickle cell patients at CHOC.

CHOC Children's

Q: How do patients with sickle cell benefit from CHOC’s comprehensive red cell clinic?

A: I started this clinic for patients with a number of red cell disorders—including sickle cell disease, thalassemia, aplastic anemia, and Diamond-Blackfan Anemia. The clinic is attended by a cardiologist, endocrinologist, and hematologist and provides comprehensive care for patients.

Our multidisciplinary clinic offers continuity of care and expedited service for patients and families that they don’t find elsewhere. Since their entire care team is in one place, families can get more immediate answers to their questions. All members of the team are involved in creating the care plan for how best to treat each patient.

Q: What should parents know about the hematology program at CHOC?

A: Along with other centers, we are a part of a growing number of clinical trials to decrease pain crises in patients with sickle cell, and their amount and length of hospitalizations. We are also part of international study looking at standards of patient care.

Patients can also benefit from neuropsychology evaluations. Our pediatric neuropsychologist is specially trained in working with patient with sickle cell disease, and can help evaluate if their medic al condition is affecting their cognitive functioning, and lay the groundwork for treatment.

We also offer a support group for families of patients with sickle cell. Families who are new to their diagnosis or our program have the opportunity to be mentored by more experienced families who can relate to what they’re going through. This group is open to all caregivers of our patients, from teachers and principals to babysitters and day care operators, who are interested in learning more about sickle cell, and what they can do to offer better care.

Q:  What aspect of pediatric hematology/oncology are you most passionate about?

A: No two patients are alike. Each and every sickle cell patient has their own challenges and battles, and each requires a unique strategy. As a hematologist/oncologist, you need to constantly think outside the box.

Despite all the health challenges my patients are facing, they always keep me laughing. In pediatrics, you’re not just treating the child, but the whole family. It adds to the challenge of providing care, but it’s essential to engage their entire environment in order to create the best outcomes for them.

Q: What impact do blood donors have on patients with sickle cell?

A: Blood donors are of utmost importance, and they are crucial for patients with sickle cell disease. Sickle cells have a shorter life span than normally-shaped cells, which can lead to anemia, or a low red blood cell count. Our patients depend on the generosity of blood donors.

Patients with sickle cell can develop antibodies after their great number of transfusions, so our team is focusing on red blood cell genotyping, so we will be able to more closely match them to specific and regular blood donors. Our ultimate goal is having patients develop fewer antibodies because they’d be better matched with their donor at a gene level.

To contact Dr. Geetha Puthenveetil, please call 714-509-8459. 

Dr. Diane Nugent Profiled as a Leader in Hematology

The chief of CHOC Children’s hematology division has been featured in a leading publication as a leader in her field.

Dr. Diane Nugent, a nationally recognized expert in pediatric hematology, was profiled in a recent American Journal of Hematology supplement as one of 11 women who are making a significant impact on the specialty.

Dr. Diane Nugent

In the piece “Women Leaders in Hematology: Inspirations & Insights,” Dr. Nugent is recognized for her expertise in rare blood disorders, including platelet disorders; her research in platelets and factor XIII; and her strong advocacy for female physicians.

Dr. Nugent and her fellow subjects were selected based on frequent nominations by their peers. Their profiles were based on interviews conducted by other women who have been mentored, trained and colleagues of the subjects.

To that end, Dr. Nugent was interviewed in the piece by mentee Dr. Loan B. Hsieh, a CHOC hematologist who first met Dr. Nugent as a medical student.

“Dr. Nugent leads by example and consistently makes time for people, whether it is a researcher interested in collaborating with her or a team member needing her advice,” Dr. Hsieh says in the article. “She is committed to her faculty’s growth, and never misses an opportunity to connect them to other experts in the field.”

In the article, Dr. Nugent’s enthusiasm for teaching and clinical care is credited with attracting younger women physicians to the field.

The article notes that though men still outnumber women in medicine, female physicians have made significant gains in the field of benign hematology, most notably in hemostasis and thrombosis.

Read the full article, and learn how to refer patients for hematology services at CHOC.