A baby is God’s opinion that life should go on. – Carl Sandburg
A mother’s sweetest joy in life is looking down at her newborn child. She swells with pride and love and her heart is filled with hopes and dreams for the new life she holds so tenderly. She cannot, even for an instant, imagine that any harm could come to the innocent life she has brought into this world, but in truth she cannot know what may be in store for her precious little one. Our SPOTLIGHT story this issue is a frightening drama with a happy ending brought about by the efforts of so many and the generous support of The Ray Tye Medical Aid Foundation.
CAST OF CHARACTERS:
Annabelle Green, the beautiful baby girl with the wide smile and blond curls.
Annabelle’s Parents, both unknowing carriers of the autosomal gene
that would cause Annabelle to be afflicted with a rare and deadly disease.
Christine Barrietua, Annabelle’s tenacious, loving Grandmother
Dr. Joanne Kurtzberg, Director of the Transplant Program at Duke University Medical Center.
The Ray Tye Medical Aid Foundation, that made needed funds available.
Annabelle Green was born on December 27, 2001. A gorgeous child, who appeared to be perfect in every way, she was a complete joy to her family. However, at about 8 months of age, Annabelle was found to have some brain swelling and her doctor ordered tests to rule out meningitis. Her family waited in frightened suspense for the results of her MRI. To their relief, meningitis was not the problem, but the very astute physician who read the MRI said he had a suspicion that, based on the brain damage he saw, Annabelle might have a far more serious problem, a disease known as Sanfilippo Syndrome. He suggested they find a specialist who could test for this possibility.
Sanfilippo Syndrome is a deadly genetic defect characterized by the absence of an enzyme involved in the breakdown of a complex sugar protein molecule. The disease ultimately effects the brain, heart, bones, vision, hearing and the liver. genetically; an autosomal gene, present in both parents, guarantees that one in four of a carrier couple’s children will be effected. The disease is so rare that in the United States only one in 350 people is a carrier and out of 4 million births, only 40 children will have the disease.
For a small family in Idaho, the prospects of finding someone who would be able to deal with Annabelle’s condition were slim. This, however, did not stop Christine Barrietua, Annabelle’s grandmother, from beginning her exhaustive search. After months of frustrating research which turned up no information, Christine’s father phoned one day to say he’d read in one of his periodicals about a child whose condition sounded a lot like Annabelle’s. “Which magazine?”, asked Christine, but her father couldn’t recall. She got a list of his subscription magazines and with today’s helpful technology, she immediately went online to research each one. Success: In a recent issue of Reader’s Digest she found the story she was looking for!
The story confirmed that the disease was rare and that at the time there was only one place and one doctor who might be able to treat Sanfilippo Syndrome. The place was Duke University Medical Center in Durham, North Carolina. The doctor, a hematologist/oncologist named Joanne Kurtzberg, who had trained extensively with cancer patients using transplantation therapy. In 1990, because of her experience and groundbreaking work, she set up the new transplant therapy program at Duke and in recent years she has established a program that uses the stem cells extracted from the umbilical cords of newborns in transplants, hoping to cure certain cancers and other rare, deadly diseases.
Simply stated, stem cells are cells that haven’t decided what they want to be when they grow up, so they hold the promise of establishing themselves as healthy tissue cells, knowing nothing of their host’s preexisting disease. Umbilical cord blood, which is almost always discarded, is rich with stem cells. These cells are a viable alternative to bone marrow, because the patient and donor don’t have to be a perfect genetic match—a valuable asset for those who cannot find a suitable fully matched donor.
In preparing for a stem cell transplant, the patient undergoes extreme treatments, sometimes including radiation of the entire body and always including very high, nearly lethal doses of chemotherapy in order to destroy the “sick” bone marrow. For the patient this drastic treatment is only part of the problem. What stands in the way of most transplants of this type is the fact that Insurance typically will not pay for them because of the new or “experimental” nature of the treatment. In addition, because of the complexity and duration of the treatment (usually up to several months), the cost, which is between $600,000 and $l million dollars, is prohibitive for most families.
Not yet knowing much about Sanfilippo Syndrome or the obstacles that could stand in the way of Annabelle’s treatment, Christine placed an early morning call to Duke University Medical Center and asked to speak with Dr. Kurtzberg. She was connected to her voice mail and left a brief but clear message. Within minutes, Christine reports, Dr. Kurtzberg phoned her back and the two women spoke for the better part of an hour. What Christine learned during that conversation was that Dr. Kurtzberg is a warm, caring and brilliant woman with an absolute sense of mission. She has spent an extraordinary amount of her free time “lobbying” and testifying before legislators and insurance companies, convincing them of the dire need to approve and pay for the life-saving procedures she performs. Learning that this pioneer in the field of cord blood transplants was actually the first to perform an umbilical cord blood transplant between unrelated people convinced Christine that she had found the hope that she was seeking.
What she learned about the long road of treatment and the exorbitant costs involved did nothing to discourage her but did everything to inspire her to begin the fight for Annabelle’s life. There was more than ordinary encouragement, due to the fact that Annabelle’s condition was discovered early, before extensive damage had been done. Most children with Sanfilippo aren’t diagnosed before the age of two when the developmental delays, hearing loss and changes in the child’s facial appearance become evident. Usually, by the time the diagnosis is made, extensive damage has already occurred. Thus, there is a critical time line between diagnosis and treatment that will determine success or failure of any intervention. Although Annabelle had some hearing loss, her development was not severely impeded and this made her a prime candidate for a stem cell transplant.
Now for raising the money and making a plan! Christine, an artist and art teacher, put her career on hold to become a warrior for Annabelle. She concurrently sought media attention and money. Newspapers and television stations in the area responded with great interest. This led to a flood of small contributions from strangers who were touched by the story and suddenly there were multiple fundraisers staged by the family and local organizations. There were coin drives by school children, bake sales, dinners, auctions and bowling events. The money didn’t exactly roll in but the public interest sure was encouraging. During all this Christine began a long, frustrating court battle trying to get at least partial payment from Medicaid. In the meantime, Annabelle’s clock was ticking—she was almost two years old.
At a crucial point in this race against time, Christine heard about The Ray Tye Medical Aid Foundation in Boston from a friend. She was told about some of the work the Foundation was doing and decided she’d make an appeal for help. Her case was reviewed in Boston and it was quickly decided that the Foundation would get involved.
.<!–nextpage–>Meanwhile, Medicaid did come through with a partial payment. This, combined with the money raised from generous friends and strangers, left a deficit of $200,000, and it was this amount that The Ray Tye Medical Aid Foundation agreed to pay toward the treatment. Annabelle’s collision course with destiny had been averted.
What the future had in store for her from this point on was in the capable hands of Dr. Kurtzberg and her team at Duke.
Annabelle was at Duke for almost six months. The family shared an apartment nearby and spent every waking moment at her side. This brave baby endured the pain of her treatment so well because of the love and constant care of her family.
She fell in love with a Sesame Street Tape in the hospital that featured Elmo and lively music played by an orchestra. When she was in pain she would cry for this video and once absorbed in it she was comforted. A social worker at the hospital told the family that many children undergoing this extreme type of treatment become withdrawn which is detrimental to their recovery. “Get her to interact emotionally every day”, she told them. “Make sure there’s always direct eye contact”, she said. This gave the family the guidelines for working with this very sick little girl and their devotion to her is a beautiful example of true love.
The transplant took place on April 23, 2004 but Annabelle did not return home until Mid-September. She brought with her many precautions to protect her fragile immune system and these will keep her fairly isolated for several months to come. Even the family dog will have to abide by the new precautions, living away from home until Annabelle’s immune system is 100%. Her doctors will monitor her closely, charting improvements along the way. She will undergo therapy for speech and hearing. Annabelle lost 50% of her hearing because of brain damage, but the damage to her liver and her heart have been reversed and the problems with her joints have disappeared. When she left the hospital she was the picture of a very sick child who had survived a great medical ordeal—her beautiful blond hair was gone and her facial appearance was altered by her lifesaving medications. When she is off the medications, her appearance should return to normal.
It may be years before doctors can be certain of the outcome of the transplant because the disease is so rare that there are not many standardized benchmarks to signal success. However, Dr. Kurtzberg believes there is much cause for hope in Annabelle’s case.
Someday, Annabelle may tell us her story in her own words. We hope she only retains the happy memories and none of painful ones. In the meantime, we hear from her We need your help Please make checks payable to: The Ray Tye Medical Aid Foundation Mail to: P.O. Box 850376 Braintree, MA 02185 grandmother who tells us she had on the job nurse’s training and is now quite able to complete the necessary weekly blood draws—something she never thought she would do. Christine also reminds us to never give up hope. She wants to thank all the people out there who have helped her so much. She was always an independent person who finally realizes that you “can’t do it all yourself”, and Annabelle’s miracle has taught her humility and empathy for others. “The important thing,” she said, “is to keep your eye on the goal”.
Dr. Kurtzberg tells us that there is a huge future in using stem cells as therapy to save lives. Stem cell research is incredibly important and she hopes the government approves such research in the very near future. Dr. Kurtzberg feels that everyone should get involved in the effort to convince insurance companies to increase the coverage for rare, risky or experimental procedures. “After all”, she said, “people don’t buy insurance to pay for throat cultures and sprained ankles. They buy it to see them through catastrophic situations that can strike anyone, anytime.”
We at The Ray Tye Medical Aid Foundation say: “We’re so proud to have helped.”