Living in memory of Ava

Julie Kirkwood

November 17, 2007 10:06 pm

— When it became apparent that 4-month-old Ava Medeiros’ death was drawing near, her parents asked the rest of the family to leave the room at Children’s Hospital in Boston.
Melanie and Troy were alone with their baby as her heart faltered. They had made the decision to stop treatment and let her die, and now they waited quietly for the end.
“It went on for hours,” Melanie said. “She was fighting.”
Around 2:30 a.m., her heart beat stopped.
“One thing you’ll never forget is watching your child take her last breath,” Troy said.
It was the end of four months of hope and despair in a battle with a rare genetic skin disease called epidermolysis bullosa. At that moment, Troy and Melanie could not have predicted that just three years later their Methuen townhouse would be filled with the sounds of two healthy babies and that they would find new happiness mixed with their grief.
“Probably the hardest thing was leaving that hospital and knowing we didn’t have a reason to go back,” Troy said of Nov. 20, 2004 — just two days shy of three years ago.
Nearly as hard, at least for Troy, was his wife’s next pregnancy and delivery.
Almost two years after Ava’s death, he found himself reliving history. Melanie went into labor prematurely again, and she was rushed to Caritas St. Elizabeth’s Medical Center in Boston, just as she had been when Ava was born.
She even had the same doctor.
The difference was that Troy and Melanie knew this time that they both carried a gene for epidermolysis bullosa. While the average couple has only a 1 in 4 million chance of having a baby with the particularly deadly form Ava had, the Medeiroses had a 1 in 4 chance. It was pure luck that their first daughter, Mckenzie, now 8, was born healthy.
So when Melanie decided it was time to try for another baby, the couple sought genetic counseling and help from the Fertility Clinic of New England in Reading. The clinic worked with Dr. Mark Hughes at Genesis Genetics in Detroit, one of the few specialists in the country on screening embryos for genetic diseases. Hughes designed a brand-new genetic “probe” for the Medeiroses’ defective gene and created a screening test specifically for them.
By the time Melanie went into labor, she knew the twins she was carrying had been tested as embryos before being implanted in her uterus and, in theory, would not carry the disease.
Yet as Troy waited during the Caesarean-section delivery, he was full of doubt.
“In your mind you think, what if it is a mistake?” Troy said. “What if one of them is born with the disease?”
Dr. Joseph Hill, who performed the embryo transfer for the couple at the fertility clinic, said the chance of the probe’s failure was only about 1 in 200.
Still, he said, “Anything can go awry, so you never know until it’s done.”
In the operating room Troy thought back to Ava’s Caesarean delivery in 2004. She was born with no skin on her elbow and a wound on her abdomen.
His wife couldn’t see from behind the curtain, so Troy pretended everything was normal.
Adjusting to the new reality
Even days later, after the doctors diagnosed her with epidermolysis bullosa, they couldn’t give the parents much information about her prognosis. Some forms of epidermolysis bullosa are relatively mild, while others are so severe that the baby doesn’t survive until his or her first birthday. Ava, they soon discovered, had the most severe type.
In the early days in the hospital, Ava’s parents couldn’t hold or touch her. They would just look at her lying on a pillow. She was hooked up to feeding tubes and monitors, and she was at risk for infection.
Later, Melanie and Troy were allowed to pick up their baby, but carefully.
“You can’t hold them under their arms,” Melanie said. “You’d hold her under her bum and her back, if you hold her at all.”
Ava lost her fingernails. Sores in her esophagus, mouth and tongue made it difficult for her to eat. She was so blistered that her body was wrapped in bandages and gauze. Her parents learned to change the dressings and were able to bathe her a few times.
Despite the pain her parents know she must have felt, Ava didn’t show it.
“She was very happy,” her mother said. “She didn’t cry. I very rarely heard her cry.”
Troy said he realized the end was near before Melanie did. In one meeting, Ava’s caregivers raised the possibility of stopping her feedings. The doctors called in the hospital ethics team to discuss the case. Troy saw the endless cycle of blood transfusions that would improve Ava’s condition, followed by the inevitable back-slide into pain.
“You just question, are we prolonging the pain?” Troy said.
Yet he hesitated to press the issue with Melanie.
“For me, I think I was kind of blind,” Melanie said.
Then one day Melanie had a panic attack on Storrow Drive on the way to the hospital. She called Troy from the road, so upset that he couldn’t even tell her the details of the emergency: Ava had stopped breathing.
After that, they had a frank discussion about whether to resuscitate their baby if she stopped breathing again. And soon, as the doctors made it clear there was nothing more they could do, Ava’s parents decided to stop her feedings and antibiotics, and administer only morphine to control her pain.
They arranged an emergency baptism at the hospital.
A few weeks later they sat with her late into the night until she died.
The aftermath
“After losing a child you both totally go through depression,” Troy said. “We handled it differently.”
Troy distracted himself with work and felt the need to resume normal life.
“I stayed inside and cried all day,” Melanie said.
She said there wasn’t much discussion about whether they would try to have another baby.
“I knew I wanted it,” Melanie said.
A genetic counselor told them it was unlikely their health insurance would pay for the specialty screening and in vitro fertilization they wanted to ensure a healthy baby. Melanie was not willing to take the chance of having a baby without it, nor was she willing to get pregnant and then abort if prenatal testing showed the baby had the disease.
So she pursued the first option and, with the help of letters from Ava’s doctors and the fertility clinic, eventually convinced Harvard Pilgrim to cover the procedure.
Troy admits he was skeptical about trying again, but went along with Melanie’s plan because he saw it as the only way to bring her out of depression.
“I wasn’t ready,” he said. “My worry was the success rate for the procedure. It’s only 10 years old.”
It took Genesis Genetics in Detroit several months to develop the probe. Then the couple’s first attempt to get pregnant failed, and they had to start over again.
Troy still has the piece of paper showing the chilling results of that second embryo screening. Of all those tested, about half would have produced a sick child.
The doctors picked the two strongest embryos among those that did not carry the disease and implanted them in Melanie’s uterus. The transfer was successful and within a few weeks, Melanie learned she was having twins.
About seven months later, as Troy sat in the operating room anxiously awaiting the Cesarean delivery, he vowed this would be their last attempt.
“I remember thinking,’ I don’t care what she says, I’m not doing this again,’” he said.
New beginning
This time it worked.
When the two girls were born, Troy knew immediately that he wasn’t reliving the past.
“I tell ya, the relief once you see them both out and crying,” Troy said. “I don’t remember Ava ever crying. Just to hear that.”
The twin girls, Isabella and Olivia, celebrated their first birthday Nov 6.
Keeping up with twin babies is so demanding that Melanie said it’s easy to get caught up in the present moment.
“You kind of forget where you’ve been,” Melanie said. “You sort of get distracted by everyday life. ... When I have a few minutes to sit and reflect, that’s when I lose it.”
She had a long cry in the shower the other day, thinking about the third anniversary of Ava’s death, which is Tuesday.
“It doesn’t hurt any less,” Troy said. “But (with time) you’re able to deal with it better.”
The Medeiroses honor Ava’s death with a yearly Mass at St. Patrick’s Church in Lawrence, which was held today. On Ava’s birthday in July they go to the cemetery and release balloons, a ritual that started at her funeral.
On the other days of the year, Ava’s parents keep her memory alive by maintaining a Web site, www.everlastingbutterfly.com. It is part memorial and part support group for other families dealing with the disease.
Troy and Melanie now devote themselves to spreading the word about epidermolysis bullosa. Troy said he hopes that public awareness will lead to more research and maybe someday there will be a cure. It’s something Ava would have wanted, he said.
“It keeps her alive,” Troy said. “All she did and all she suffered, we owe that to her to do what we can.”
Melanie agreed. “That was her purpose in life.”

Selecting the healthiest baby
Ten years ago, a couple like Troy and Melanie Medeiros would have had limited options for having a baby once they learned they were both carriers for a fatal genetic disease. They could choose not to have kids; they could get pregnant and take the risk; or they could have prenatal testing and abort any fetus that carried the disease.
Now there’s another option: pre-implantation genetic diagnosis.
Step 1: Parents submit blood samples at a local fertility clinic. The samples and information about the genetic defect are sent to a laboratory specializing in pre-implantation genetic diagnosis.
Step 2: Scientists at the laboratory use the parents’ DNA to build a probe that matches their genetic defect. The probe will stick to any DNA that has the defective gene and alert doctors. Developing the probe generally takes about 12 weeks.
Step 3: The couple begins the process of in vitro fertilization at their local fertility clinic. A doctor harvests the woman’s eggs and combines them with her partner’s sperm in the laboratory to create embryos.
Step 4: The embryos grow in the laboratory. On the third day, when each embryo is a ball of just five to eight cells, an embryologist carefully removes one cell from each.
Step 5: These cells are sent to the pre-implantation genetic diagnosis laboratory. Scientists there use the probe to test the DNA in each cell. They send a report back to the fertility clinic indicating which embryos have the gene defect.
Step 6: The fertility clinic chooses the healthiest-looking embryos from the ones that don’t have the genetic defect and implants them into the woman’s uterus. If, a few weeks later, she finds out she’s pregnant, she knows the baby is highly unlikely to have the genetic disease.
Pre-implantation genetic diagnosis has been used for more than 200 diseases and, in theory, could work for any lethal disease caused by a single, known genetic defect. Some of the diseases screened are cystic fibrosis, muscular dystrophy, hemophilia, Tay-Sachs disease and sickle-cell anemia.
The technique also can be adapted for couples who want to screen for chromosomal abnormalities, to select a baby who is a genetic match to be a donor for an older sibling with a disease, or to choose the sex of the baby.
It is not usually covered by insurance.
Sources: Dr. Joseph A. Hill, president and CEO of the Fertility Clinic of New England, and Genesis Genetics Institute.

Epidermolysis Bullosa
A rare, inherited skin disease that makes a person’s skin blister at the slightest touch. Victims are known as “butterfly children” because their skin is as delicate as butterfly wings.
About 1 in 50,000 live births are affected by the disease in some form. Some types of EB are so deadly the patient rarely lives to her first birthday. Other forms are mild.
There is no cure, but research is underway.
For information, go to DebRA.org.

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