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Queens Chronicle

Living with a rare blood disorder, a child suffers

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Posted: Thursday, December 3, 2009 12:00 am

Sophia Tavolacci, clad in a pink shirt and matching pants, clung to her father’s knee because she is shy around strangers. A mask with Disney characters covering the lower half of her face along with her pale, almost transparent skin are the only visual indications that something is wrong with the otherwise happy two-year-old.

“We tell her that she has a little boo boo on the inside of her and we try to explain everything to her, but mentally I don’t think she knows what’s going on,” explained her father, Santino Tavolacci.

In July, Sophia was diagnosed with severe aplastic anemia, a rare blood disorder. It can be treated with medication, blood transfusions or a bone marrow transplant. At one time the disease was almost always fatal, but thanks to advances in medical technology, that is no longer the case. Still, the road ahead for sufferers is not an easy one, especially for those as young as Sophia.

The Tavolacci family, who recently lost their health insurance, discovered Sophia’s illness by accident after taking their two daughters to the pediatrician for a routine check-up. Christina, 9, suffers from epilepsy, asthma, eczema and attention deficit disorder, but Sophia had never been seriously ill before.

The doctor said Sophia was anemic, needed to take an iron supplement, and should return for a follow-up visit in two days. That’s when things turned serious.

The doctor informed the family that Sophia needed more than just iron. Tests showed that her white blood cells, red blood cells, platelets and hemoglobin levels were all low. At first they thought she had leukemia, but a visit to a specialist at Schneider’s Children’s Hospital in New Hyde Park confirmed that Sophia had severe aplastic anemia. She spent the next seven weeks at the hospital undergoing multiple blood transfusions and bone marrow biopsies.

“A whole team came down and introduced us to the staff and tried to explain what kind of process this is going to be,” Santino Tavolacci said. “It was just meeting after meeting. They wanted to see her and observe her and they took a lot of blood samples.”

The doctors wanted to see if her body would respond to the blood transfusions and heal itself, but that was not the case.

“She was getting worse, a lot worse,” her mother Catherine Tavolacci said.

While at the hospital, the family spent the days by Sophia’s side and in the evenings took turns resting at the nearby Ronald McDonald House, a nonprofit organization that helps families stay close to their hospitalized children.

“This started in July and I still cry every single day,” the distraught mother said. “Our whole lives changed. Her treatment is a gamble. What’s going to happen with her is a gamble. This disease is a gamble. There are no guarantees.”

During her first three-day discharge from the hospital, she had to be rushed back in the middle of the night after developing a terrible rash that started off as hives and quickly spread, making her look as though “someone had thrown acid on her,” according to her mother.

Even worse, she had an adverse reaction to the Benadryl she was given for treatment, causing her to have rages and tantrums. Meanwhile, her veins showed signs of wear from the multiple IV’s she had been given.

“When she goes to the hospital, she says: ‘Mommy, I’m home,” and I tell her ‘No Sophia, you’re not home’ and she would say ‘The hospital is my house,’” Catherine recalled.

A healthy person has 90 percent of their bone marrow, but Sophia only has 10 percent. She has to wear a mask to prevent exposure to germs, because any minor illness, even a common cold, could be fatal. She takes eight different medications to keep the anemia in check.

“She’s not easy with the medication,” Catherine said. “We have to hold her down and open her mouth.”

“Other kids take it, but her, it takes four nurses to hold her down to give her Tylenol,” Santino added.

Sophia has also undergone a chemotherapy treatment.

Symptoms of aplastic anemia include: fatigue, shortness of breath, rapid or irregular heartbeat, pale skin, frequent or prolonged infections, unexplained or easy bruising, nosebleeds and bleeding gums, prolonged bleeding from cuts, skin rash, dizziness and headache.

“Every day is different,” Catherine Tavolacci said. “Some days she can’t get out of bed.

Santino and Catherine have been together for 16 years and have been happily married for 10. They were once a normal family who enjoyed spending quality time together. They took their daughters to parks, zoos, aquariums and museums, but now they live in a world filled with restrictions. They must stay away from crowds and are confined to their home for most of the day.

The girls do a lot of arts and crafts and play board games to keep busy. A recent flood left their home in need of repair and the girls spend most of their time on the second floor of the three-family house with their grandparents.

“I feel sad sometimes,” said Christina about her sister’s condition. “I cry sometimes. It upsets me a little that I can’t go to school, but I know it is to help my sister get better.”

Christina hasn’t gone to school since her sister became ill. Her parents wanted to get homeschooling for her, but the Department of Education denied their application. With no other options available, the Tavolaccis kept Christina away from the classroom and as a result the administration at P.S. 199, the public school she used to attend, contacted the Administration for Children’s Services accusing the parents of neglect. [see separate story]

Approximately 500 to 1,000 Americans per year are diagnosed with aplastic anemia, according to Dr. Adrianna Vlachos, a specialist at Schneider’s Children’s Hospital, who is treating Sophia and has nearly 20 years in the field.

It can develop at any age and leaves suffers feeling tired and places them at higher risk for infections and uncontrolled bleeding.

Vlachos treats three to five patients under the age of 21 with aplastic anemia per year. The best course of action for young patients is to do a bone marrow transplant from a sibling whose marrow matches, which usually has a 92 percent success rate.

The second choice is medical management — a regimen of medications taken for three to six months. That option yields a 75 to 80 percent survival rate. For those who don’t respond, the last resort is to find an unrelated bone marrow donor, in which case the survival rate is only 50 percent.

Aplastic anemia occurs when damage is done to bone marrow, preventing the production of red blood cells, white blood cells and platelets. It can be caused by a myriad of factors including exposure to toxic chemicals, a viral infection or the use of certain drugs.

Tests showed that Sophia’s condition wasn’t hereditary. Nevertheless, her parents couldn’t help but wonder if they were somehow to blame.

“We were just thinking of things that we might have done, just going crazy,” said Santino. “Maybe it was the flood or maybe something I brought home because I work in construction and it could be caused by exposure to chemicals like Benzyne. Then we thought maybe its because we live near the cemetery and there’s embalming fluid leaking from the bodies and into the soil.”

Prior to Sophia’s diagnosis, the family contracted what they believe was swine flu from Christina who had gotten infected at school, but all recovered.

“They are saying that maybe that’s the reason why she got the aplastic anemia because her body was fighting the flu or virus or whatever she had and then it kind of counteracted against her own body and it kept fighting and eating up her bone marrow,” explained Santino Tavolacci.

Sophia is home with her family now, but she must return to the hospital at least once a week for a blood transfusion. Since Christina is not a bone marrow match, Catherine is trying to get pregnant through an in vitro procedure, in hopes of producing a sibling match.

“I came to the conclusion that since I want kids anyway and I don’t want my daughter to die that I would want to do this,” she explained.

Preimplantation Genetic Diagnosis combined with Human Leukocyte Antigen matching is used to produce an embryo with a tissue type compatible with that of the sick sibling. When the baby is born, stem cells from the umbilical cord blood are implanted into the sick child.

On Thanksgiving Day, doctors informed Catherine that the procedure did not work. She has decided to try it again in January, but it costs approximately $25,000.

Catherine is a stay-at-home mom, and Santino was laid off from his job two months ago, causing the insurance loss. They have been asking the public for donations and have so far raised $2,000. They have also been using their savings and selling their personal possessions to help make up the difference.

“I just want this to be over,” sobbed Catherine. “I just want Sophia to be a normal, healthy girl — to run and play.”

The Tavolaccis are asking for monetary donations and gift cards to local stores and supermarkets. They can be sent to: Sophia’s Fund, P.O. Box 770423, Woodside, NY 11377.

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