UMCH Genetics Experts Provide Life-Saving Diagnosis to Newborn with Rare Metabolic Disorder
Valentine’s Day 2005 was extra special for Tina and Shawn Ingram. That day, the Eastern Shore couple welcomed Jacob into the world. Their new baby was beautiful and everything seemed perfectly normal until the phone rang a couple days later.
The pediatrician was on the line. She was calling to tell Tina that her new son had an abnormal newborn screen. The doctor said Jacob had traces of methylmalonic acidemia. The words easily roll off Tina’s tongue now, but until that phone call, she had never even heard of this condition.
Methylmalonic acidemia is a genetic illness that halts the body from correctly metabolizing some components of protein. It is one of the 33 rare and serious disorders that the state of Maryland looks for in newborn babies when blood is taken at the hospital shortly after birth. In states that do not screen for this disorder, most children are diagnosed only when they become very sick.
Jacob was immediately hospitalized in Easton for over a week, and it was ultimately confirmed that he had a mild form of this metabolic disorder. At this time, the Ingram family also met for the first time Dr. Carol Greene, a geneticist at the University of Maryland Children's Hospital and a professor of Pediatrics at the University of Maryland School of Medicine.
“Through our outreach programs we provide pediatric specialty services to the children in their own communities, and provide consultations to community pediatricians throughout the state,” explains Steven Czinn, M.D., professor and chair of the Department of Pediatrics at the University of Maryland School of Medicine.
“We had gotten a call from the state saying that there was a baby with a positive newborn screen for methylmalonic acid,” recalls Dr. Greene. “I was already in the Easton area for clinic, so we stopped by to see the family and see if we could answer their questions.”
Jacob’s pediatrician and the Easton hospital sent samples immediately to the University of Maryland for the first step in diagnosis. Within the full-service biochemical genetics laboratory at the University of Maryland School of Medicine, Dr. Miriam Blitzer, a geneticist at UMCH and a professor of Pediatrics and OBGYN at the UM School of Medicine, quickly confirmed that he had elevated levels of methylmalonic acid present.
"It was critical to get the results quickly so that the appropriate treatment could be started," says Dr. Blitzer. "Because the laboratory is located on site, we were able to get the results to Dr. Greene within several hours after the sample arrived.
Diagnostic testing on Jacob continued. The next step was to figure out what type of methylmalonic acidemia he had because there are in essence three categories of this disease, and each has a different treatment.
Jacob needed a costly skin test to further his diagnosis. Insurance declined to cover the $2,500 test. Coincidentally, at this same time, a grateful parent called Dr. Greene looking to make a donation as a thank-you for the care her family received. Dr. Greene said sometimes they can use money to help pay for expensive diagnostic testing. The mother was intrigued and asked for an example. Dr. Greene explained that, in fact, she had a patient right now who needed a $2,500 test to confirm a diagnosis. The donor agreed to give money to cover the cost of the test for Jacob.
It was confirmed that the source of Jacob’s disorder was not caused by a vitamin B12 deficiency or altered B12 metabolism, so he would not benefit from B12 injections. Instead, the genetics team at the University of Maryland informed the family that the only way to keep him healthy was to continue on a very restricted diet.
“Jacob is restricted in the amount of protein he can have each day," explains Dr. Greene. His family does a wonderful job keeping track of his intake. For instance, they must know the protein content in every bite of pea, squash, potatoes and even bread.”
“Jacob cannot eat any meats or dairy. He eats mostly fruits and vegetables,” says Tina.
Jacob’s health is completely dependent on keeping with his diet. Right now, he is a happy and healthy toddler, but he has monthly laboratory tests and regular visits with Dr. Greene to make sure he continues to thrive.
Jacob is at risk of becoming seriously ill when he has an ordinary childhood disease. So if he has an ear infection, for instance, Jacob needs to be checked very carefully by his pediatrician to see if he needs to come in the hospital for intravenous sugar. “Jacob’s pediatrician and his family have done an incredible job caring for him – it really is a team effort,” emphasizes Dr. Greene.
“Our experience at the University of Maryland has been wonderful," says Tina. "We never feel rushed. Everyone takes the time to answer all our questions, and we do have lots of questions."
Jacob’s family credits the newborn screening with saving his life. “I remember Dr. Greene saying if we had not caught this early, Jacob would have been dead or near dead when he had any symptoms,” says Tina.