After Grim Diagnosis, Parents Turn to Internet, Social Networks

Julie Leach knew something was amiss during a routine check-up.

"At my 20-week sonogram the technician took an awful long time trying to get a shot of her jaw," Leach said.

Later, when she and her husband Matt Leach learned the rare diagnosis of their newborn daughter, a condition that puzzled doctors, they turned in desperation to the Internet.

The Internet often provides families like the Leach's unfiltered health information and access to specialists. It also has increasingly become the place where people connect with others who share similar diagnoses, through blogging, Facebook and other social media.

"Twenty to 30 years ago when we didn't have the Internet our parents probably had to go to the library," said Jae Eun Chung, an assistant professor at Kent State University who researches health communication in new media. "Now we are just one click away from medical information."

A study by the Pew Internet and American Life Project found that one in five Americans uses the Internet to find people with similar health concerns. For people with chronic illnesses, it's one in four.

When doctors asked Julie Leach, of Calvert County, to return for another sonogram to get a better measure of her baby's jaw, she scoured the Internet for "small jaw" and prepared for the worst.

"By the time we went in there, I knew pretty much all there was to know, because I needed to," Leach said. "I need to at least have some idea, to know the terminology, and to be able to carry on an educated conversation."

But the Internet provides more than basic medical information. For Leach, it offered a forum for sharing her story when it was too difficult to share face-to-face. Social networks, like Leach's blog, help families cope with the difficulties of chronic illness.

"Now we have social networking tools that allow people to connect with each other for emotional and informational support," said Dr. Gunther Eysenbach, of the Centre for Global eHealth Innovation. "For the patient, it is greatly empowering."

Leach was admitted to the University of Maryland Medical Center at just 29 weeks. Doctors spent the next five weeks monitoring her and the baby.

On October 22, 2010, shortly after midnight, Abigail "Abby" Leach was born at 4 pounds and 17 inches.

Two hours later, the Leach's went down to the Neonatal Intensive Care Unit (NICU), where a doctor showed them Abby's X-rays.

"The majority of her ribs were in pieces," Julie Leach said.

Abby has Cerebrocostomandibular Syndrome (CCMS), a rare condition most often resulting in infant death.

"In the beginning, they did not have a lot of hope for her," said Julie Leach. "They were just on eggshells."

Diagnosing Abby
Doctors gave the Leach's all the information they could.

"The geneticist gave us one piece of paper that she Xeroxed from a medical book from the 70s," Leach said. "It was basically a death sentence."

CCMS is characterized by deficiencies in cerebral development, cleft palate, and malformation of the ribs and jaw, according to the National Library of Medicine.

It is unclear how many confirmed cases have been reported worldwide. Most sources say the number is between 50 and 75.

"Once we found out her real diagnosis, we went right to the Internet again," Julie Leach said.

They found one researcher in Boston, but he couldn't provide much information.

Feeling helpless, Matt and Julie Leach found support in family, friends and prayer. After six weeks, Abby was transferred to Mt. Washington Pediatric Hospital, where she spent another six weeks in the NICU, and her parents began training to care for her at home.

Learning that their daughter would need many surgeries to repair her ribs, jaw, cleft palate and spine, Matt and Julie Leach immediately began finding the best spinal surgeon, thoracic surgeon and pulmonologist in the area.

Abby, who is intubated and has a gastrostomy tube (g-tube) that allows her to get nutrition without requiring a tube in her nose, needs constant care.

"We learned how to do trach care, trach replacement, and to clear and change the g-tube," Julie Leach said. "We did take performance and written tests before we could even talk about going home."

Even with painstaking preparation and constant care-giving, Abby's odds were not good. Many infants with CCMS die from respiratory complications during the first few months of life. Many more are lost within the first year.

"Our geneticist who diagnosed it only knew what it was because she saw one case in residency 30 years ago," Julie Leach said. "We had to go to the Internet. We pored through online medical journals. I just kept researching."

Now, families touched by CCMS are reaching out to Leach through her blog, which she began shortly after Abby's diagnosis.

"One family in Chicago Googled and found me," she said. "And another family in New Jersey has a daughter who is 12. Her issues are a little different than Abby's, but she's been a real encouragement to me."

At Mt. Washington Pediatric Hospital, the nursing staff gives the Leach's information to parents who need a little hope.

"I've been able to tell them, yes there is life after a ventilator and there is life after a trach," she said. "The more we see, the more we feel like God has given us Abby so we could share her story."

Leach said she still occasionally searches the Internet for CCMS.

"I want to see what comes up," she said. "I also want to search it to see if anyone else is blogging about CCMS."

Despite the benefit of social networking, doctors and other health professionals remain the primary source for personal health information and diagnoses.

"It's very difficult for parents to get an idea of what the future holds for these kids," said Dr. Manbir Singh, Abby's pediatrician. "It gets frustrating for a lot of parents when there is not a cut and dry answer."
This is particularly true with rare diagnoses because patients are inundated with complex, sometimes conflicting information. While the Internet can help parents sort through it all, Singh believes it can lead to worry and doubt.

"The Internet can be a very detrimental tool," Singh said. "It all depends on the parent."

But despite these concerns, communication scholars see the benefit of expanded access to health information.

"Those patients who are motivated have the tools to educate themselves," Chung said. "Doctors need to adjust to their patients who are now more empowered and educated."

Julie Leach said educating herself was the best way to prepare and push through the grim reality of CCMS.

"I strongly believe in the power of researching and tell every family that is facing a difficult diagnosis to research everything they can," said Julie Leach, 29. "You'll find the worst-case scenarios, and it won't be any worse than that."

But the young couple says they couldn't have made it on research alone, raving about the support they received from the NICU staff, the hospital chaplain, family, friends and especially from God.

"I'm convinced that prayer works, more than ever now," said Matt Leach, 33.

The Leach family recently celebrated Abby's 1st birthday, yet another milestone for this little girl who has far surpassed initial expectations.

"She has so much personality," Julie Leach said. "When we first got her diagnosis we were told she wouldn't be much more than a vegetable."

Not so for Abby, who plays, laughs and stands.

Leach updates her blog regularly and her posts automatically appear on Facebook to reach more people.

"We don't want people to have to walk this road alone," Julie Leach said. "And it's a very dark and scary road."

Capital News Service contributed to this report.