Advanced Surgery at Children's Hospital Oakland Includes Technique Called “Invisible Scar Surgery"
Jacob Hernandez takes after his father Joseph in many ways, including their mutual love of baseball. Unfortunately, 11-year-old Jacob also inherited a blood disorder called hereditary spherocytosis from his father. But thanks to comprehensive medical care at Children's Hospital & Research Center Oakland and an innovative procedure called "Invisible Scar Surgery," Jacob's experience with the disorder won't be a carbon copy of his dad's.
“I inherited hereditary spherocytosis from my mother, who was diagnosed in her 30s,” Joseph says. “She had felt exceptionally tired and run-down after the births of her second and third children, but she just assumed that was normal.”
Joseph’s mother bore three more children—he is the youngest—and three of the six inherited hereditary spherocytosis. “When I was a child, our family was part of a research study in Tucson, and they traced the disorder back to my maternal grandmother,” Joseph recalls. “In addition to my mother, two of my sisters, and me, the disorder affected my mother’s siblings and four of my cousins. Our family’s case was considered unusual because the condition is not very common among people of Spanish descent. It is much more common among families with Northern or Eastern European ancestry.”
In people with hereditary spherocytosis, the membranes around red blood cells are fragile because of defective genes. The mutations in the membranes cause the red blood cells to become rigid and misshapen. A more rapid breakdown of red blood cells, called hemolytic anemia, is common in children with hereditary spherocytosis. Thus, the normal bone marrow must work more efficiently to produce more red blood cells to compensate for the more rapid breakdown of the red blood cells.
“Normal red blood cells are flexible, flat disks shaped like a doughnut or bagel without the hole,” explains Alison Matsunaga, MD, a specialist in pediatric hematology and oncology at Children’s. “In hereditary spherocytosis, red blood cells become spherical like a ball, so they have trouble passing through small blood vessels. These faulty red blood cells are broken down within the spleen—an organ with small blood vessels. The faulty cells live only about a month, compared to the lifespan of about three months for normal red blood cells.” Because the spleen is where the red blood cells get destroyed, surgically removing the spleen was long considered standard treatment for hereditary spherocytosis.
“When I was 6 years old, a splenectomy meant traditional ‘open’ surgery, and I have the large scar to prove it,” Joseph notes. “I was in the hospital for about two weeks, and I still vaguely remember being sore and in pain for quite awhile. I was left with a half-inch-wide scar, from sternum to belly button. Having such a big scar made me very self-conscious, especially in school sports when other guys would ask, ‘What happened to you?’ I also was self-conscious with girls at the beach. Fortunately, I became less self-conscious as I grew older.”
Despite his distant memory of that surgery and an awareness of hereditary spherocytosis in his family, Joseph and his wife Christine were caught off-guard when their son Jacob was born with jaundice, which can be a symptom of the condition. (Jaundice is yellowing of the eyes and skin due to an excess of a chemical called bilirubin that is produced when blood cells are broken down.)
“Physicians at the hospital where Jacob was born had no experience with this disorder,” Joseph says. “Normally, when babies are born with jaundice, it goes away on its own fairly quickly. In Jacob’s case, it got worse, and his bilirubin levels were critically high. They performed two different complete blood transfusions, trying to get his blood test results to be normal.”
When Jacob’s blood test results continued to be abnormal after three months, his pediatrician referred the family to Dr. Matsunaga. Joseph and Christine subsequently had two more children, son Joshua (now 8 years old) and daughter Jordyn (now age 4). Both of them inherited the same disorder, although Jordyn currently is not affected as dramatically because her body produces red blood cells at a higher rate than the boys’ bodies do. Dr. Matsunaga has coordinated specialized care for all three children.
“There’s supposed to be a 50-50 chance that a child who has a parent with hereditary spherocytosis will inherit the disorder,” Christine says. “I guess you could say we beat the odds, with all three children inheriting hereditary spherocytosis. It’s a total relief to have the children under Dr. Matsunaga’s care.”
At one point, Dr. Matsunaga’s care involved ordering blood transfusions for Jacob and his younger brother Joshua when they were 6 and 3 years old, respectively. They both had contracted the virus parvovirus-B19, which temporarily keeps the body from making red blood cells.
“Children who do not have hereditary spherocytosis may just get a cold or a distinctive red rash on their faces with parvovirus, which is why it’s sometimes called ‘slapped-cheek disease,’” says Dr. Matsunaga. “In kids with hereditary spherocytosis, however, the parvovirus homes in on the bone marrow and suppresses red blood cell production to the point where the hemoglobin level plummets quickly.
Both boys developed a severe ‘aplastic’ crisis, and they needed blood transfusions.
“In addition to anemia and jaundice, children with hereditary spherocytosis can develop an enlarged spleen,” Dr. Matsunaga adds. “A substantial number also develop hard deposits in the gallbladder called gallstones.”
Like his father, Jacob has had surgery to remove an enlarged spleen. Since Jacob also had developed gallstones, his doctors decided to remove the gall bladder at the same time. The surgery was performed in August, just after Jacob’s 11th birthday – and it was dramatically different from his father’s surgery.
“Removing the spleen is still a standard treatment for hereditary spherocytosis, but now we monitor the child’s condition carefully and wait as long as possible to do surgery because the spleen has important functions in the immune system,” says Thomas Hui, MD, the pediatric surgeon at Children’s who performed Jacob’s surgery. “After surgery, we have the children on long-term antibiotic treatment to avoid overwhelming infections.”
While some surgeons still do traditional open surgery to remove the spleen, it’s now more common to perform splenectomies with laparoscopic procedures that require four or five small incisions rather than a large incision that leaves a disfiguring scar.
Dr. Hui is among a small group of surgeons who are skilled in an even more advanced technique called “Invisible Scar Surgery” that requires only one small incision.
“We make a small incision through the belly button, which actually is already a scar, so there is no visible scar after surgery,” Dr. Hui explains. “In addition to spleen and gall bladder surgeries, we can use this procedure for surgeries on the appendix, ovarian cysts and the large intestine and colon.
“Having no visible scar benefits patients psychologically,” Dr. Hui adds. “Obviously, if you have a choice between a procedure that leaves scars and one that leaves no visible scar, you would choose the latter. Jacob compared his ‘invisible’ scar with his dad’s, and was really appreciative. Besides the psychological benefits, patients who undergo this procedure experience less post-operative pain because of the small, single incision, and they have a shorter hospital stay and recovery time.”
“The night before surgery, I was a little scared,” Jacob recalls. “It helped that Dr. Hui had explained that they would put me on ‘goofy juice’ and I wouldn’t remember what happened. The nurses were nice, too. It took me about three days to feel all better. The only thing I hated was waking up at three in the morning to get a blood test, but then I could go back to sleep.”
Dr. Hui had also explained to Jacob that he would not have a large scar like his father’s. “I’m glad I don’t have a big, giant ÿscar like my dad’s,” Jacob says. “All I can see is a little indent under my belly button. I’m involved in sports, and no one notices. Only my close friends even know I had the surgery. If I had a big scar, it might make more people curious about what happened.”
Although Jacob subsequently had a leg injury that limited his sports activity during the fall, he really enjoyed playing baseball again this spring. He also has done well in his first year in middle school.
“My favorite subjects are art and science,” he says. “Even though I like science, I don’t know if I’d want to be a doctor. My mom and dad say I’d make a good lawyer because I’m always arguing with them.”
“Obviously, the surgery did not correct Jacob’s attitude,” jokes father Joseph. “He still has an 11-year-old kid attitude. But other than that, he’s doing very well. He even brags about his ‘non-scar,’ and, as parents, we are very thankful he doesn’t have a scar. I can’t imagine how self-conscious he would be.”