Mark and his parents, Andre and Rachel, returned to the hospital only six weeks later. Mark had been looking pale, and a complete blood count (CBC) done by his local pediatrician showed that his levels of hemoglobin -- the component of red blood cells that carries oxygen to the tissues and muscles -- were dangerously low. That discovery would launch a series of trips to the Janet Weis Children's Hospital every five to seven days.

"It was unreal," Rachel says. "Now, looking back, I don't even know how you do something like that, but at the time, you just keep telling yourself, 'it could be worse.'"

Unfortunately, that was only the beginning of the challenges they would face. During one appointment at the children's hospital, a doctor pulled Rachel aside and told her there was trouble with Mark. Rachel assumed it had to do with the ongoing problems with low levels of hemoglobin, so she was surprised to hear that something new had been found. Mark's immune system wasn't functioning, and it was possible that he had severe combined immunodeficiency, or SCID, an often-fatal disease that is characterized by a nearly non-existent immune system. He was sent to Children's Hospital in Philadelphia for more testing, and the family went home to wait for the results, which might indicate that Mark's only option was a bone-marrow transplant.

When the results came back that Mark's system wasn't bad enough to necessitate a transplant but wasn't good either, Andre and Rachel had to make a decision: whether or not to go through with the transplant, a risky procedure that might not work and could cause severe complications.

"It was horrible," Rachel says. "All I can remember is feeling so stressed all the time, like I constantly had a knot in my stomach.  I didn't feel happy about anything for a long time."

They returned to Janet Weis Children's Hospital and discussed their options with then-pediatric hematology/oncology director Narayan Shah, MD, who had been seeing Mark because of his low hemoglobin levels. Dr. Shah was adamantly opposed to the transplant and introduced the family to Majed Koleilat, MD, a Janet Weis Children's Hospital resident specializing in allergy and immunology.

"Dr. Majed," as the family calls Dr. Koleilat, did yet another series of tests to determine if Mark needed a bone-marrow transplant. They would have to wait roughly two months for the results.

During that time, Andre and Rachel were on the offensive against germs. Without a functioning immune system, Mark couldn't battle any sickness or infection. For him, going outside could be dangerous, as could having anyone come to visit. It was especially dangerous for Mark to be around any other children.

"There are germs everywhere. Even getting groceries was scary because you didn't know what you might be bringing in," Rachel remembers, adding that she was constantly cautious of germs, even while pumping gas or in church. "Someone coughing near him would send me over the edge. Germs became the enemy."

Dr. Koleilat called with Mark's test results the day before Thanksgiving in 2001. Mark did not need a bone-marrow transplant, but he would need to start intravenous immunoglobulins, or IVIG.

"Basically, we use pooled plasma from screened donors, which has been tested for purity and safety, and then we infuse it into Mark's system," says Dr. Koleilat, now a staff physician at Janet Weis Children's Hospital.
The immunoglobulins stabilized Mark's blood-count levels and eliminated the need for transfusions. Testing continued, however, to determine a diagnosis for Mark. This took on an additional level of importance as Andre and Rachel found out they were expecting another child. Soon after, the family welcomed a new baby boy and fortunately, A.J. had none of the health problems his older brother had.

Mark's diagnosis would turn out to be two-fold. The first half came when Mark was almost two years old. He had a rare form of anemia called congenital dyserythropoietic anemia, a rare blood abnormality. The next spring, he would be diagnosed with common variable immunodeficiency, a rare disease that could cause distress from even a mild infection.

"At first, it was exhilarating to have a diagnosis, but Mark had been through so many diagnoses and prognoses that I didn't trust anything at first," Rachel says.

Mark receives immunoglobulins on a monthly basis at Janet Weis Children's Hospital, shifting his care to a more predictable schedule. The infusions will continue indefinitely, but Koleilat recently coordinated a plan for the family to make the trip to Danville once every three months, while Mark receives his monthly treatments at home.

"The infusions most likely will be required for his lifetime," Dr. Koleilat says. "Because he can't produce antibodies, he needs to get them from somewhere."

Rachel says that when the process started, she went to Dr. Shah with any question they had and that he was the only one she trusted. After he retired and Mark started seeing Dr. Koleilat, "now Dr. Majed is the one I trust," she says. She adds that she goes to Dr. Koleilat with any questions or concerns she has, especially now that she and Andre are expecting their third child.

"Treating children really is a partnership with their parents," Dr. Koleilat says.

At three years old, Mark is active and extremely social, making it hard to believe there was a time when he couldn't be around other children.

"I'm still careful," Rachel says. "If a kid in his pre-school class is sick, Mark doesn't go. And we still wash our hands quite a bit."

And while their consciousness of germs isn't as dramatic as it used to be, "we're all healthy because we're so aware of germs," she laughs.