Right away the obstetrician knew that something was very wrong.
Morgan McElhinney weighed just over five pounds and had a head that was abnormally long and narrow. Her muscle tone was worrisomely floppy, and her cry unusually weak. Doctors at Frederick Memorial Hospital let Lisa Simonson McElhinney hold her newborn briefly before whisking her off to the neonatal intensive care unit.
“I didn’t see her much for a few days,” recalled McElhinney of the period immediately following the birth of her fourth child, in June 2002. After nearly a week in the hospital the baby was sent home, although no one could say what was wrong. Initial tests found no obvious cause, such as a metabolic disorder.
“We were scared,” said McElhinney, who manages apartment buildings in Frederick. “You try to be optimistic and say, ‘Maybe she’s not that bad, maybe she’s just really early and will grow out of it.’ Even the professionals tried to be optimistic” at first, she said.
More than five years would elapse before McElhinney and her husband, Brad, learned the reason for their daughter’s problems. That knowledge brought a fresh wave of grief that rocked McElhinney and drew her to a new endeavor aimed at helping other families.
The first sign something was amiss, said McElhinney, now 46, came just before she went into labor, when the baby turned from the foot-first breech position to the proper head-down position.
That seemed odd: There shouldn’t have been enough room for the baby to shift so dramatically this far along in the pregnancy. Maybe, she thought, the baby was coming earlier than expected — a month, instead of the two weeks the doctor had calculated. She was not alarmed; McElhinney had three older children from a previous marriage ranging in age from 7 to 16, and this pregnancy, like her earlier ones, had been uneventful.
Morgan’s low birth weight — 5 pounds, 3 ounces — was one of the first shocks, said McElhinney, who is 5-foot-10 and whose older children had weighed about eight pounds at birth.
After a few months, it was clear that Morgan’s problems were more serious than anyone anticipated. “We fed her and changed her, and that was about it,” McElhinney recalled. “She didn’t respond to any of us,” and her limbs were “like jelly.” McElhinney and her husband worried that she might have autism, a fear that escalated as she grew older and began making odd, repetitive flapping movements with her hands.
Morgan’s failure to gain weight was equally worrisome and prompted a referral to the first of many specialists, who had no answers. At 7 months, when she had not rolled over, which some babies do when they are a few weeks old, Morgan began early intervention therapy under the auspices of a state program.
Around the same time, McElhinney’s hopes were briefly buoyed. Doctors discovered that Morgan was severely nearsighted. “Vision is so important to development, so we hoped once she got glasses that would help,” McElhinney said. But seeing better didn’t seem to make much difference.
Soon afterward, Morgan’s parents took her to a neurologist at Johns Hopkins Hospital. He ruled out cerebral palsy, a birth injury or a structural problem with Morgan’s brain. His diagnosis: “global developmental delay,” which seemed more description than explanation.
“I was just very frustrated, but at least I knew the hospital hadn’t done anything wrong,” said McElhinney, who worried that something had happened during delivery to cause Morgan’s problems or that she somehow was responsible. “But when you don’t know what the diagnosis is, you don’t know what to expect” or how best to treat it.
A second visit to the neurologist when Morgan was 15 months old and had just begun to sit unsupported — nearly a year after most babies do — was similarly unrevealing. Doctors ruled out autism and several rare chromosomal maladies, but they couldn’t pinpoint the underlying problem.
“We basically just kept trying to get her development going,” through the early intervention program, said McElhinney. As long as Morgan was making slow progress that seemed the best thing to do, especially as a protracted family crisis demanded considerable attention and resources.
“It’s hard,” she said. “I work a full-time job and have three other kids.” She and her husband decided to devote their energies to making sure Morgan got the help doctors said she needed and to put aside their search for a diagnosis.
But in the fall of 2007, when Morgan was 5, a local neurologist who had been seeing her suggested that the family consult specialists at the Kennedy Krieger Institute in Baltimore, which treats children with developmental disorders.
In January 2008, McElhinney took Morgan and her voluminous medical records to Kennedy Krieger. “I really thought, ‘Oh, my God, am I ever going to know what this is?’ ” she recalls.
After taking a detailed family history and performing some tests, the developmental pediatrician said something McElhinney had waited five years to hear: “We think we know what this is,” she remembers being told. A definitive diagnosis would require confirmation by geneticists at Hopkins.
Morgan met many of the criteria for Cohen syndrome, a very rare genetic disorder first described in 1973 by Canadian physician Michael Cohen. To date, only about 1,000 cases of the disorder have been identified worldwide, although doctors agree that many more have never been diagnosed.
Cohen syndrome results from the mutation of the VPS13B gene, which may be involved in the sorting of proteins in cells, according to the Genetics Home Reference Web site. Most people with the syndrome, which ranges in severity, experience growth problems, delayed development, intellectual disabilities including mental retardation and low muscle tone, and they have smaller than normal heads at birth. Heart defects and retinal problems leading to blindness can also occur. Most patients inherit two defective copies of the gene, one from each parent .
There is no cure for the syndrome, which is overrepresented among certain groups where marriage to outsiders has been uncommon, allowing rare genetic flaws to be perpetuated. These groups include the Amish, people of Finnish ancestry, a nomadic Irish group known as Irish Travellers, and residents of an isolated Greek island.
“I had no idea what this was,” said McElhinney, whose ancestry is entirely Finnish. “I thought, ‘Can this really be?’ Our family was so proud of our heritage, and I just felt kicked in the stomach.”
Vinayak Kottoor, the genetics fellow assigned to her case, said that doctors did not initially zero in on Cohen syndrome.
“Morgan had some features of other rare genetic diseases, so we thought broadly,” he recalled, “but this was certainly high on the list.” They became more convinced after the syndrome topped the list produced by a computerized database of 300 disorders and conditions into which Morgan’s information was fed.
Kottoor, who is now an instructor in medicine at Johns Hopkins School of Medicine, then recommended a screen for the VPS13B gene. But when the family’s insurance company refused to pay for the $5,800 test on the grounds that it would not affect her treatment, Kottoor found a laboratory in Gaithersburg that would test for a portion of the gene — for $300, an amount the family could afford — that would be sufficient to make a firm diagnosis.
“A diagnosis gives a family an identity with which to work,” said Kottoor, who said Morgan remains the only case of Cohen’s syndrome he has seen. “It can potentially solidify access to services” and may provide new treatment options as research into genetic disorders evolves.
In June 2008, testing revealed that Morgan has what geneticists call “the Finnish mutation” in one gene, presumably received from her mother; because Brad McElhinney has some Pennsylvania Dutch ancestry, Morgan may have inherited two defective genes, but the $300 test did not search for a second mutation. McElhinney assumes she and her husband “just happened to hit that lottery.” Doctors believe they each carry the defective gene, although there are no other known cases of anything resembling Cohen syndrome in either family.
The finding was both a relief and deeply sobering. With no cure, treatment consists of addressing the physical symptoms and developmental delays.
Kottoor characterizes Morgan as moderately affected. At 9, she weighs 45 pounds, is not toilet trained and resembles a tall toddler, according to her mother. Although she does not speak, Morgan is affectionate and communicates using a device similar to an iPad; she has an excellent memory and appears to understand a lot, says McElhinney.
“I didn’t realize in the beginning Morgan wasn’t going to talk,” she added. “That’s been so difficult. I wonder, ‘What is she thinking?’ ”
Desperate to learn more about the disorder and contact other parents, McElhinney connected with the DDC Clinic in Middlefield, Ohio, which specializes in the treatment of rare genetic disorders; doctors there have diagnosed more than 20 cases of Cohen syndrome in the small Amish community nearby. A few months after Morgan’s diagnosis, McElhinney and Morgan attended a conference in Ohio where she met other families.
“The kids look alike, and when you see all those kids that look like your kid, I can’t describe it. It’s a feeling of relief and almost joy,” she recalled. “That meeting was the first place where my daughter fit in.”
The following year she helped found the Cohen Syndrome Association, an international online advocacy group designed to raise awareness of the disorder. “We really support each other,” said McElhinney, who is contacted weekly by families seeking assistance or information. “I can’t stop what happened to Morgan,” she said, “but I can help other families.”