Courtesy The Day Family(CINCINNATI) -- Patients at a children’s hospital in Cincinnati will have a merrier Christmas this year thanks to a donation of 4,000 toys by one of their own, a 14-year-old undergoing brain surgery.
Savannah Day, of Troutsville, Va., and her two sisters, six-year-old Chloe and 17-year-old Sierra, collected the toys in less than three months after they found out in September that Savannah and their entire family would spend Christmas at Cincinnati Children’s Hospital Medical Center.
Savannah was diagnosed over the summer with Chiari malformation, an overgrowth of the skull that causes spinal fluid to build up in her brain. She underwent surgery Thursday at the hospital to remove part of the overgrowth and drain the fluid from her brain.
“I think it was in the moment of them finding out that they would be in Ohio for Christmas that they wanted to bring Christmas to everybody else that was here,” the sisters’ mother, Michelle Day, told ABCNews.com today from the hospital.
“They looked at me and said, ‘We’re not going to have a Christmas so we want to take Christmas to everyone that’s not going to have a Christmas like us,’” said Day, who was told by the hospital that there would be 500 patients at Christmas.
“I told the girls, and they never flinched and said, ‘We’ll just ask more people, Mom,’” she said.
The Day sisters, all three cheerleaders, started a Facebook page -- “Cheer 4 Savannah” -- and spread the word through their respective cheerleading squads.
Soon the cheerleaders of opposing teams, local companies and even Little League teams were donating to the cause.
“Toys have just been coming to the house,” Day said. “My husband’s employer agreed to house them so we’ve just been sorting, labeling and boxing them.”
It quickly became clear that the girls would far exceed their original goal of 500 toys. By the time the family was ready to leave for Cincinnati, there were 4,000 toys in all and a local tractor-trailer company volunteered to drive the toys to the hospital.
On Wednesday, Savannah and her sisters presented the toys to hospital officials. The toys were distributed Thursday to current hospital patients and one will be given to every new patient between now and Christmas. With the leftover toys, the hospital plans to re-stock its playrooms.
The Day girls’ involvement in cheerleading led another sponsor, Varsity.com, to step forward and offer a way to keep the family’s mission going. The cheer-focused company has created $5 “Cheer 4 Savannah” buttons that they plan to sell at cheerleading competitions and donate 100 percent of the profits to the “Cheer 4 Savannah” foundation the Day family plans to establish.
“That the girls are going to pay it forward after Savannah recovers, there’s just not words for that,” Day said. “The girls can keep buying toys to bring smiles to kids’ faces.”
If all goes well with Savannah’s surgery Thursday, her mom says she hopes to be back on the competitive cheerleading circuit in time for Nationals in the spring. By then, she’ll also be ready to buy more toys for patients who will be going through what she’s going through now.
“The girls are really ecstatic that their journey hasn’t ended,” Day said. “It’s really just begun.”
Courtesy Alexandra Drane/Engage with Grace(NEW YORK) -- "Talking about sex won't make you pregnant and talking about death won't kill you," says Alexandra Drane, the founder of Engage With Grace. She's on a mission to encourage families to have "The Conversation" about end-of-life wishes. She is part of a growing movement -- and for her it's personal.
When Alexandra Drane was just 32, her beloved sister-in-law, Rosaria "Za" Vandenberg, a vivacious 32-year-old wife and mother of a 2-year-old girl, was diagnosed with Stage 4 brain cancer.
The family had never spoken with her about her end-of-life wishes.
"We had no idea what she wanted because we never had the conversation with her about what her preferences would be, and we didn't because we never thought we would need to," said Drane.
While 70 percent of people say they would like to die at home, only 30 percent do, according to The Conversation Project. So crusaders such as Drane, an advocate for having a conversation about what our loved ones would want at the end of their lives and co-founder of the group Engage with Grace, are coming forward to share their own stories. They hope to make clear why it is so important for people to discuss their end-of-life options in advance with the people they love.
Just seven months after she was diagnosed, Za was clinging to life in a hospital bed, not having touched or held her daughter in two months, not opening her eyes in weeks. Drane and Za's other family members wanted to take her home, but the oncologists resisted.
"The head oncologist said, 'No, her case is too complicated,'" Drane said. "I said, 'OK,' and I will forever be grateful to my man, her brother, who stood at that moment and said, 'No, we are taking her home.' And so we did."
When Za was surrounded by the familiar comforts of her own home, her daughter Alessia -- who had been afraid to come near her mother in the midst of the hospital tubes -- climbed up in bed next to her.
"I will never forget, she tucked her head right there under the crook of her mommy's neck, that special spot, and she gave her mom her medicine -- something she hadn't done in well over two months," Drane said. "And Za, my sister-in-law who had not opened her eyes in at least a week, woke up fully and looked her daughter straight in the eyes and loved her in that ferociously intense way that only a mommy can."
The next day, Za died.
"The most incredible thing for me as more time has passed and I can look back on it and really think without dissolving is I'm so grateful that we got Za home ... because we know now when we look back that her last moments were peaceful, they were beautiful. They were with her daughter. That Alessia will know for the rest of her life that she was the last thing her mom saw. And we almost weren't able to give her that gift and that tortures me."
Drane co-founded Engage with Grace to help other families have conversations about end-of-life care before their loved ones get sick -- so they can avoid gut wrenching decisions that she and her family had to face when Za fell ill.
According to The Conversation Project, depression rates plummet among surviving family members when they're able to carry out the wishes of their loved ones who have died.
"This is a conversation that you can have with friends at a dinner table, you can have on a walk with a family member, you can go on a date with expressly this purpose," said Drane. "There is no greater gift you can give the people that you love than caring for them in the way that they would want at the end of their lives."
According to Drane, the holidays are a perfect opportunity to have the conversation.
"You only die once, die the way you want," Drane said. "You are never too young to have the conversation, and now is a good a moment as any other."
iStock/Thinkstock(NEW YORK) -- Flu season is here, and federal health officials are urging Americans to get vaccinated.
The Centers for Disease Control and Prevention estimates that last year, the flu vaccine prevented 6.6 million Americans from getting sick and resulted in 3.2 million fewer doctor visits.
According to the CDC, this year, about 40% of people reported getting the flu vaccine by mid November, which is about three percentage points higher than that time last year.
But Dr. Anne Schuchat, director of the National Center for Immunization and Respiratory Diseases, says flu activity could get worse as we head into winter.
"We're not where we were last year. Last year, we'd already had quite a lot of disease, but we really don't know what this flu season will be like, because most years, in 90% of years, the flu peaks between January and March," Dr. Schuchat said.
But don't worry - CDC Director Dr. Tom Frieden says there is still time to get immunized.
"Vaccinations ideally should occur before flu is circulating widely but as long as flu is still spreading, it's not too late to get vaccinated," Dr. Frieden said. "Flu vaccine in a vial doesn't do anyone any good. The more people the vaccinated, the more benefit to individuals, the fewer the hospitalizations, the fewer the illnesses and deaths."
Heather Smith, her husband John, and son Taylor Dahley, who has lived for 18 years with SCID-X1. (Courtesy of Heather Smith)(NEW YORK) -- Heather Smith carries a recessive gene for a rare sex-linked primary immune deficiency disease that kills most boys before they are 1 year old, and she passed it on to her two sons.
Her oldest, Brandon, behaved like a normal, healthy baby until he was about six months old and couldn't fight off his first cold. He had trouble eating, he developed a rash on his face and thrush in his mouth, and his fingernails turned blue.
Brandon died within three weeks of being hospitalized in 1993 of severe combined immunodeficiency, or SCID-X1, commonly known as "bubble boy disease." It was so named for David Vetter, a Texas child with SCID-X1, who died in 1984 after living for 12 years in a germ-free plastic bubble.
"I had seen the movie [The Boy in the Plastic Bubble] with John Travolta, but I never dreamed I would someday lose my first-born child to this devastating disease," said Smith, founder of SCID-Angels for Life, which successfully pushed for mandatory screening of all newborns for the disease in her home state of Florida.
"[A bone transplant] wasn't even an option presented to us for consideration," she said. "Instead, we were told that we had to say goodbye to our only child and turn off the machines."
After genetic testing, Smith's son Taylor was born in 1995, and because of early detection, he received the first-ever in-utero bone marrow cell transplant, previously only done on sheep. Today, at 18, he is "thriving," according to his mother and leads a normal life. He's now preparing to go to college.
Taylor receives infusions of gamma globulin, a blood product that helps his immune system fight off infection.
"It's a treatment, not a cure," Smith, 45, told ABC News. "He will take it for the rest of his life. He still has a defective gene."
But now, an international consortium of scientists has perfected gene therapy in promising clinical trials that they say may lead to an eventual long-term cure for SCID-X1.
Eight out of nine children given gene therapy in the study -- all age 3 and younger and living around the world -- fighting off everyday germs that once might have killed them. They have been cancer-free for between nine and 36 months.
"These boys are basically born without any immune system and are not able to fight off even a cold," said Dr. David A. Williams, a pediatric hematologist/oncologist who directs the gene therapy program at Dana-Farber/Boston Children's Cancer and Blood Disorders Center.
The U.S. study sites are Dana-Farber/Boston Children's, Cincinnati Children's Hospital and UCLA. They are being funded by the National Institute of Allergy and Infectious Diseases and the National Heart Lung and Blood Institute's Product Assistance for Cellular Therapies Program.
The standard treatment for boys with SCID-X1 is stem cell or bone marrow transplantation. That works well when there is a sibling who matches or if it's done before a child contracts an infection.
But problems happen graft versus host disease develops and the incoming immune system attacks the child's own cells, or when the graft just doesn't take.
"This is the potential advantage in the experimental trials," said Williams. "Since you are using the child's own cells, there is no search for a donor. The child is its own donor."
Gene therapy works by taking stem cells from the child's own bone marrow, correcting the IL-2 common gamma chain receptor gene, then reintroducing the cells back into the child.
There, the genetically engineered stem cells multiply and produce normal immune cells.
Heather Smith said she was hesitant to "take a risk" and consider gene therapy for Taylor in the future, even if he were a good candidate.
"Other than getting infusions every three weeks, he feels like he lives a totally normal life," she said. "His quality of life is so good."
But for other young children down the road, she said, "it's extremely exciting if this leads to a cure."
An estimated 250,000 people in the United States have one of the 185 primary immunodeficiency diseases, according to the Immune Deficiency Foundation.
There are several forms of SCID, but the most common type is linked to the X-chromosome and affects only males. Unlike boys, who have a Y chromosome, girls have a second X chromosome that is able to function for the faulty one.
Boys with SCID-X1 have a severe defect in both the T- and B-lymphocyte systems, causing serious and sometimes life-threatening infections within the first few years of life, including pneumonia, meningitis or bloodstream infections.
In two previous gene therapy trials in Paris and London, 18 of the 20 boys had a complete repair of their immune system, according to Williams, but five developed cancer as a consequence of the virus vector used to deliver the "payload" of repaired gene.
As a result the Food and Drug Administration stopped the trial for child patients in the United States. But in the latest trial, based in Germany, Britain and the United States, scientists "fished out where the vector landed and saw that it was next to a gene that was oncogenic (cancer-causing)," said Williams.
Now, they have changed the virus vector to deliver the repaired gene more safely.
"The bottom line is the vector seems to work as well as the old vector," he said. "We have to wait longer to know whether any of the children develop leukemia before we can say for sure."
The two children who have been in the study the longest have been cancer-free for more three years, which is about the point those in the previous studies had developed the cancer.
The findings of the Dana-Farber/Boston Children's study were presented this week at the annual meeting of the American Society of Hematology in New Orleans by pediatric hematologist/oncologist Dr. Sung-Yun Pai.
She treats 6-year-old Aidan Seymour of Springfield, Mass., who was diagnosed with SCID-X1 at the age of seven months. At the time, gene therapy was not available, so he underwent a successful blood cord transplant, which can be done with an unmatched donor. In order to minimize the risk for graft versus host disease, he had chemotherapy first.
"We had hope, but there was risk," said his mother, Kirstin Seymour, 37. "It is an art, not a science."
At the time, a cord transplant seemed the best option.
"I can say as a parent, that if I had had that opportunity for gene therapy, 100 percent it would probably have been my course of action," she said.
Today, Aiden is doing well and takes no medications, but Seymour worries about whether Aidan will ever be able to have children or if he will develop a secondary cancer because of chemotherapy. "At this point, they say he should be able to live a long, happy, healthy life like everyone else," said Seymour.
But Aidan can never get a second transplant from the blood cord donor because of the anonymous nature of the transplant, so gene therapy might provide promise for him.
"It allows the body to cure itself from its deficits, and that is pretty amazing," said Seymour.
Williams is also optimistic about the research.
"Because this is very experimental in human beings, we can't answer if these children are cured with any surety yet," he said. "But because we put the correction into the blood stem itself and those stem cells last a lifetime, it is likely a long-term correction of the child."
Gene therapy technology may also help children with other genetic diseases, most notably sickle cell anemia.
"One of the great things about this trial is that it has multiple institutions around the world working together," Williams said.
mark wragg/Thinkstock(NEW YORK) -- Older women with a strong family history of breast cancer might soon have a new, safer option to help them avoid developing the disease.
New research led by Dr. Jack Cuzick, head of the Cancer Research the U.K.’s Center for Cancer Prevention, looked at a drug called anastrozole, a therapy already used to stave off breast cancer recurrence in postmenopausal women who have experienced the disease.
Among the questions Cuzick and his team hoped to answer was whether the same therapy could help prevent breast cancer in women who never had the disease but have a high risk of developing it.
To answer this question, they studied more than 3,800 women in 18 countries who had a strong family history of the disease -- at least two relatives with breast cancer, for example, or women whose mother or sister developed the disease at a young age.
The researchers found that a daily anastrazole pill cut breast cancer incidence in these women by more than half -- 53 percent -- with few side effects.
“The biggest surprise of our study was that the side effects were less than expected,” Cuzick said.
Cuzick presented the new study Wednesday at the San Antonio Breast Cancer Symposium. The study also appears in the journal Lancet.
This would not be the first drug to be used to prevent breast cancer in women who have a high risk of the disease; a small number of women take drugs like tamoxifen and raloxifene for this purpose. But their side effects, which include an elevated risk for blood clots, stroke and other cancers, keep many women away from such treatments.
While anastrazole is not without its side effects, the hot flashes and joint pain that accompany its use are generally considered to be less severe than other more serious issues.
Doctors not involved with the study said the findings were promising. Dr. Angel Rodriguez, a breast cancer doctor at Houston’s Methodist Cancer Center, said that based on this study, he will start using the drug for this purpose in his patients.
“We need to raise awareness that medications to prevent cancer exist,” Rodriguez said. “It is vastly underutilized in the world. This study further validates their safety -- a major concern for most prescribers.”
Dr. Lawrence Wickerham, chief of cancer genetics and prevention at Allegheny General Hospital in Pittsburgh, agreed that the finding could change clinical practice.
“The results will provide an additional option for postmenopausal women to decrease their risk of developing breast cancer,” he said.
Not all doctors agreed, however, that all women who could potentially benefit from this treatment would be willing to endure the side effects of the drug.
“Asking women to take a daily pill to prevent breast cancer is a hard sell, particularly when there is an undertow of other concerns that arise with taking the pill,” said Dr. Michael Fisch, chair of medical oncology at the University of Texas MD Anderson Cancer Center in Houston.