Plateau family and friends pray for little Olivia

Published 12:40 pm Thursday, December 11, 2008

By Brenda Sexton

The Courier-Herald

"Happy Birthday to You."

Olivia Medici turned 4 years old this month.

She spent the morning of her birthday receiving an umbilical cord stem cell blood transplant. If successful, it will halt the rare and terminal genetic disorder she inherited and perhaps extend her life into adulthood, maybe longer.

"She's doing awesome," her mother Annalee (Klein) Medici said from Olivia's bedside at Duke Medical Center in North Carolina. "Her spirits are great. She's adapted well to the situation."

It's just what her family and friends in Enumclaw want to hear.

Olivia's mother is a 1988 Enumclaw High School graduate. Although Olivia and her family live in Portland, Ore., Olivia's grandfather, an aunt, uncle and cousins still live in Enumclaw. They, along with friends on the Plateau, are planning an upcoming fund-raising event to help the family meet expenses not covered by insurance.

Olivia's story began before she was born.

"Unbeknownst to Annalee and myself, we both carry a recessive MPS (mucopolysaccharides) gene," Olivia's father, Mark, explains to those who visit the family's Olivia's Wish Web site. "And when Olivia was conceived our recessive genes became a dominant gene on Olivia's chromosomal strand. In essence and in layman's terms, Olivia was born without an enzyme in her blood that breaks down heparin sulfite (complex sugar)."

Usually hard to detect, it was the little things - since she was four months old - that didn't add up to Mark and Annalee.

Olivia had mucus build up in her sinuses and a series of tubes in her ears. By 19 months old she had mild hearing loss and was wearing hearing aids, but that in itself didn't tip Annalee and Mark off. Olivia sometimes walked on her toes. She had a herniated belly button. There were speech and motor skill delays. But she was also a typical toddler who loved to run, jump, ride her bike and play with dolls.

All signs that can point to MPS.

Annalee said all the little things added up and made them suspicious.

"Combining it all together, to me, was an issue," she said. "My experience working with kids and my degree told me something was wrong."

Annalee has a bachelor of science in human development, and while living in this area worked with medically fragile children at Ashley House and special needs children in the Sumner School District.

The couple's persistence paid off.

"As parents you're the biggest advocates for your kids," she said.

On Nov. 16, Olivia was diagnosed with a rare and terminal metabolic disorder called Mucopolysaccharides Storage Disease III and the worst version of it, Sanfilippo A. Without the enzyme to break down complex sugar, Olivia's body will slowly store the excess sugar it cannot naturally process. The body stores the excess sugar in the brain, heart and soft tissue areas of her skeleton, causing mental and physical deterioration. Not only terminal, Sanfilippo A will completely debilitate Olivia as she ages.

Without treatment Olivia would likely die between ages of 10 and 13.

Then her parents found reason for hope.

Before the Medici's got the diagnoses, their research led them to Dr. Joanne Kurtzber, director of the pediatric bone marrow and stem cell transplant program at Duke Medical Center.

"We were prepared to leave for Duke the instant we got the diagnosis," Annalee said.

They left for North Carolina Dec. 7.

According to Mark and Annalee, Olivia is the 15th child in the world with MPS Sanfilippo A to undergo an umbilical cord stem cell blood transplant procedure, not to be confused with the controversial embryonic stem cell research. An umbilical cord stem cell blood transplant involves taking blood from the portion of the umbilical cord of a baby and its mother that is tossed away after birth.

Olivia underwent nine consecutive days of chemotherapy to disable her immune system. On her fourth birthday, she received new stem cells through the cord blood transfusion. The remainder of her hospital stay will depend on her recovery from the chemotherapy and her body's ability to accept and generate new stem cells.

According to Mark, of the 14 who have gone through the procedure at Duke nine have survived and are living today; five have died.

"She's definitely not out of the woods," Annalee said. " The road is still very hard. Her system is totally depleted."

The Medici's are praying for full recovery by July 2006.

Annalee, a stay-at-home mom, has been able to stay at Olivia's bedside and keep Olivia's younger sister Eva, 2, nearby. Mark is on "family medical leave" for 11 weeks and will return to Portland at the end of February. Family members have been sharing a weekly rotation cycle to help care for Eva.

"We are thankful for this support," both parents said.

They are also thankful for the friends and family in Enumclaw who are planning a fund-raising benefit.

Olivia's hospital treatment will cost about $900,000, not including two years of outpatient treatment following her hospital stay. Insurance will cover about 85 percent of the bill, but Olivia's family will still face tremendous out-of-pocket costs.

A Heart to Heart benefit dinner and auction in Olivia's name is planned for 6:30 p.m. Feb. 5 at Pete's Pool. Tickets are $30 each or two for $50. The evening will include a dinner and a live and silent auction. For information contact Heather Boren at bhboren@netzero.net or 360-829-2437 or Penny Harp at 360-825-8668.

Also, a beneficiary fund has been set up in Olivia's name at Washington Mutual Bank. Donations will help offset uncovered medical, travel and living expenses for Olivia through the next year and a half. Once Olivia's procedure is done a 501(c)3 medical foundation will be established to aid further Sanfilippo research.

The Medici's are trying to drum up awareness for, and education about, the disorder by telling Olivia's story and inviting people to visit their Web site at www.oliviaswish.com where they have posted information and are updating Olivia's progress through regular journal entries.

"Olivia is a brave, little girl and deserves all the support in the world, as does any child suffering from any disease," Mark said.

Brenda Sexton can be reached at bsexton@cmg-northwest2.go-vip.net/courierherald.