The news came from Kim Shaffer and simply read, "It is with great sorrow to tell you that Emma has passed on to be with the angels."
Emma was Kim and Justin Shaffer's only daughter and 7-year-old Calvin's baby sister. She would have been
3 years old Jan. 9, but on Dec. 18 her battle with Niemann-Pick type C came to an end. The neuro-metabolic genetic disease is rare, often misdiagnosed, and there is no cure.
It was early December. Kim and Emma Shaffer were headed to the pediatric clinic in Walla Walla.
"I'm pretty sure she has pneumonia again," Kim said at the time, "but I'll know more after we see Emma's doctor."
Emma's pediatrician, Chris Hall, confirmed what Kim already knew pneumonia. He gave her antibiotics, but left the decision up to Kim whether to hospitalize Emma again. He said Emma's time was short weeks, maybe a couple of months.
"She's dying and I didn't want her to live in a hospital anymore she's more comfortable here," Kim said the next day at their home in Elgin.
When Emma was born, all of her Apgar test scores were normal. The Apgar birth test is a method for assessing the physical condition of a baby immediately after birth based on five criteria: heart rate, respiration, muscle tone, response to stimuli and skin color. For about three days, Emma appeared to be a perfectly normal, healthy baby girl.
On the fourth day, they noticed Emma looked jaundiced. Blood tests showed higher than normal levels of bilirubin, a byproduct usually secreted by the liver. Elevated bilirubin in newborns can be a fairly common occurrence and is often treated with light therapy. But by three weeks, Emma's condition had not improved.
"She was really fussy, she wasn't nursing and her belly was distended," Kim says.
A trip to the Walla Walla Pediatric Clinic revealed Emma's spleen was enlarged. After consulting with doctors at Doernbecher Children's Hospital, Dr. Hall told the Shaffers he wanted to fly Emma to Portland the next day.
"Anytime you see vomiting and enlarged organs, you know something is not good," Hall says.
Neonatal hepatitis was the best guess the Portland doctors had, and by the time she was two and one-half months, the Shaffers were still making a trip to Portland once a week for more tests and more treatments without a firm diagnosis. The trips lessened to every two weeks and then every three weeks. By July, the trips to Portland had extended to every three months, though Emma still could not tolerate any cereal or other food by mouth or she would become violently ill. Kim was breast-feeding her every two hours and continued until Emma was 18 months old. That was when she had her first feeding tube installed through her nose at Doernbecher.
In October 2004, she had another surgery to insert a gastrointestinal feeding tube and started going down hill.
"She did better for a while, then she stopped scooting, quit talking she quit all communication," Kim recalls.
Meanwhile, the doctors were still doing tests to find a cause skin, muscle, bone marrow and liver biopsies. A CT scan in 2005 showed white matter ganglia developing in Emma's brain cells.
"There aren't many diseases so rare you can't figure them out. But this had me stumped. It had everybody stumped," Hall says. "Doctors are supposed to maintain some professional distance, but sometimes an extraordinary bond can develop. This was one of those times. I was Emma's doctor from her birth until her death that usually isn't the case for pediatricians. She's the only patient I really wanted my kids to meet. They still talk about her and they still pray for her."
Emma could have been difficult she certainly had every right to be. But Hall says she wasn't.
"She never cried. She had these beautiful, blue eyes and she always had a smile. Even if I'd done something that wasn't so fun, she never cowered or acted afraid of me. The whole family are just nice people. Even Emma's brother never complained. All the times he spent sitting and waiting in my office or in the hospital, he never said a word," Hall says.
The key to Emma's health crisis would be unlocked by a simple twist of fate that put the right man in the right place at the right time. The initial diagnosis was both a relief and a death sentence.
Emma had been undergoing the battery of tests at Doernbecher when the Shaffers were approached by a hospital social services worker.
"She had this awesome idea to have a roundtable, bringing all the doctors at one time with all their tests to brainstorm together. The metabolic doctor that had been working with Emma was out of town, so the director of the metabolic clinc, Dr. Robert Steiner, agreed to sit in," Kim says.
Around the table, each member of the team reported this one had found storage cells developing in the liver, that one discovered foamy cells in the bone marrow. Another described the white matter in the brain tissue discovered during the CT scan. Kim watched Steiner, head down, listening with intense concentration. Suddenly, his head popped up. "Wait a minute we need to back up. Read the pathology on that liver biopsy again."
Steiner took the records with him to review and ordered cells sent to the Mayo Clinic for confirmation of what he already suspected.
He came back to Kim the next day, May 10, 2005. It was Mother's Day.
"I can't confirm this yet, but I believe I know what Emma has," he told her.
Niemann-Pick type C is what is known as a lysosomal storage disease involving tiny structures in the cells called lysosomes. Currently there are approximately 60 types of lysosomal diseases, besides NP-C, identified.
Dr. Steven U. Walkley, professor of neuro-science at Albert Einstein College of Medicine in New York, is a scientific adviser for the Niemann-Pick Foundation.
In an editorial opinion published in the Los Angeles Times last September, Walkley said NP-C is one of the 6,000 rare diseases one that affects fewer than 200,000 Americans listed by the National Institute of Health. Rarity means medical research is badly underfunded for these diseases. But Walkley says as a group, rare diseases affect nearly 25 million Americans.
Discovering more about NP-C, Walker believes, could provide insight into other diseases. For example, though Alzheimer's and NP-C are not otherwise closely related, they do share a common abnormality.
"Brain cells in children with (NP-C) are characterized by the formation of abnormal tangles that are identical to those of adults with Alzheimer's disease," Walker writes.
As carriers of the disease, Kim and Justin Shaffer are passionate about raising funding for research. Though Calvin is healthy, at some point they will do genetic testing to see if he also is a carrier. Kim is hesitant to have any more children.
"I'll never put another child through this," she says now, but Justin hopes for the future.
Emma's life, and death, has made the family stronger and brought them closer.
For more information on NP-C, or to make a donation, contact the NIemann-Pick Foundation on line at www.nnpdf.org .