A newborn was diagnosed with what’s called the “bubble boy” disease and his mother is hoping that a bone marrow transplant will save his life.
POSTED: May 4, 2008
MARTINSBURG —Rebecca Manor is still smarting from the accusation that she wasn’t feeding her 3-month-old son Keithan.
It was Easter Sunday when she got the call from her pediatrician asking why her son was gaining weight at the hospital, but losing weight at home. She figured it was because he was hooked to an IV and pumping fluids through his body. Thinking it might be neglect, her doctor told her that she was being reported to Child Protective Services.
“I couldn’t believe they thought I wasn’t feeding him,” she says.
It would take a transfer to three hospitals before doctors discovered the problem was actually Severe Combined Immunodeificiency, which according to the SCID Foundation’s Web site is a a primary immune deficiency. According to several Web sites, SCID happens in 1 out of every 100,000 live births.
SCID is commonly referred to as the “bubble boy” disease, named for the large plastic-encased room that David Vetter had to live in for 12 years during the 1970s and 1980s. Vetter’s story loosely inspired the 1976 made-for-TV movie “The Boy in the Plastic Bubble,” which starred John Travolta.
Manor says her pregnancy with Keithan was fine. He came five weeks early, but it wasn’t a cause for concern because her other four sons —twins Bailey and Jayson, 4; Justin, 2; and Brayden, 16 months —had all arrived prematurely. “Everything seemed fine,” she says.
Keithan was born at 10:15 p.m. Jan. 24 in City Hospital. He weighed 5 pounds, 6 ounces and was 18 1/2 inches long. He had 10 little fingers, 10 little toes. He was perfect.
She had brought him home to his brothers and he seemed to be doing fine. But he wasn’t gaining weight, causing Manor concern.
On March 23, Keithan was admitted to City Hospital because he wasn’t gaining any weight. By March 25, he was transferred to Ruby Memorial Hospital in Morgantown. “After three or four days, he was shipped to D.C.,” she says.
Now, Keithan is at Children’s Hospital in Washington, where Keithan’s new doctor helped to pin-point the reason for lack of weight gain. The doctor told her that he suspected SCID, or the “bubble boy” disease. “I didn’t even know what it was. I was stunned,” she says. “I sat for a moment and was quiet.”
Manor says the reason he suspected that Keithan might have SCID was because his T cell production in his blood was low. According to the SCID Foundation Web site, “the defining characteristic of SCID is the absence of T cells and, as a result, lack of B cell function as well.”
According to the National Human Genome Research Institute, it’s rare for SCID to be diagnosed. Children often exhibit the following symptoms: eight or more ear infections; two or more cases of pneumonia infections that do not resolve with antibiotic treatment for two or more months; failure to gain weight or grow normally; infections that require intravenous antibiotic treatment; deep-seated infections, such as pneumonia that affects an entire lung or an abscess in the liver; persistent thrush in the mouth or throat or a family history of immune deficiency or infant deaths because of infections.
After a blood test confirmed her doctor’s suspicions, he called the next day to tell her that it was indeed SCID. The diagnosis was bittersweet because at last, she had a name for what was causing her son’s medical problems, but it also meant a journey for her child.
According to the SCID Foundation, unless the defects in the blood are corrected infection would be Keithan’s biggest obstacle, which would most certainly mean death before his 2nd birthday.
There are at least 10 forms of SCID, but Manor says there are two main types — X-SCID and ADA deficiency.
In the case of the X-SCID, the female is a silent carrier. “It said if I was a carrier then I had 50 percent chance that any male child would have it, but none of my other four boys have it,” she says.
In the case of ADA deficiency is inherited from both of the baby’s parents, each one carrying a normal copy of the gene and one abnormal copy of the gene.
Manor, who says Keithan’s father really isn’t the picture, isn’t sure if SCID was inherited by her or by her and Keithan’s father. She says she’s waiting on test results to find out which kind of SCID her son has and what’s the next step for him.
Most likely, Manor says, he will have to have a bone marrow transplant. She says she’s already thought about the hard decision if one of her other young sons are a match. “I know some people won’t agree with it, but I would allow them to be a donor,” she says. “It might be painful that day, but when they get older they will know why they did it.”
She says her other sons have been asking about their younger brother. “They keep asking when he’s coming home from the hospital,” she says, as her boys play behind her. “I tell them that he’s sick and he’s there to make him better.”
They also ask about his helicopter ride. Keithan had to be airlifted from Morgantown to Washington, D.C.
It’s that trip that Manor says she remembers the most. “It was the first time he smiled — really smiled — at me,” she says.
Currently unemployed and in the middle of moving, Manor says she can’t stand that she’s not able to spend time every day at Children’s Hospital with her son. “It just kills me,” she says.
She’s scheduled to go down today to see him, thanks to her family driving her there. She says when son Jayson had to have open heart surgery, she slept in the waiting room for days. With Keithan, that’s not an option.
“But I’m on the phone with his doctor every day to check to see if his weight is up,” she says, looking at the photos of Keithan.
At this time, Manor says it’s a waiting game to see what’s the next step. If he does get a bone marrow transplant he might still have to undergo gene therapy. She hasn’t even thought about the bubble.
She’s also not even thinking about the mountain of medical bills she’ll be facing. Instead, she says, she’s thinking about other mothers who might face the same diagnosis of their child.
“They can do a simple test at birth,” she says.
In fact, researches at the National Human Genome Research Institute, part of the National Institutes of Health, have developed a new method to detect the immune deficiency. It’s a process that Manor says will one day be a part of the regular blood work-up for newborns.
As for the pediatrician who accused her of neglect, Manor says she received an apology. But right now, it doesn’t matter. “It kills me that I’m not able to hold him,” she says.
—Staff writer Crystal Schelle can be reached at (304) 263-8931, ext. 213, or firstname.lastname@example.org
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