News Articles

Below are four articles from the

San Diego Union-Tribune published in 1984, about me and EB when I was born.

Happy reading!

From historic room, hope for the future

Published Sunday, Dec 09, 1984

By Rex Dalton

WASHINGTON -- Dwarfed by tall white marble columns and crimson drapes that often have served as a backdrop for history, Cynthia Perez of Poway moved shyly into the Senate caucus room where a crowd of families introduced themselves, shared heartbreaks with strangers, and charged the atmosphere with the joy of the moment.

The nearly 200 people at the reception were a potpourri of Americana. Scattered among them were a select few who stood out because of their slight stature, sideways-rocking walk, and arms that ended in mitts or stumps of scar tissue.

Those with the ravaged bodies were victims of epidermolysis bullosa, commonly known as EB, a rare, inherited disorder where the skin can peel off at the slightest touch and organs like the esophagus can be destroyed by the movement of their function. No cure is known for EB. And there are no significant treatments.

Perez's 17-month-old daughter, Cristina, has one of the more virulent forms of the disease, a type which strikes only about two dozen newborns annually in the nation. The infant must have her arms and legs bandaged to protect them from the slightest pressure. Already her hands are starting to build up scar tissue from the raw blisters that often dot the youngster.

The Nov. 29 reception opened the three-day meeting of the first national conference of Dystrophic Epidermolysis Bullosa Research Association, known as DEBRA, which drew families from as far away as England and Australia.

The conference was a triumph of the will for parents scattered around the world, who once were ignored by the scientific and medical communities, but now were united with them in the nation's capital.

For Perez, the journey was her first to the East; it was the first transcontinental airplane trip for the 27-year-old who hates to fly and the first time she would meet EB victims of varying ages face-to-face.

Seeing for the first time what the future holds for her daughter was the most unsettling.

"I was shocked," said Perez. "I had read what to expect, but when I saw those children I had to hold back tears the whole time. I wanted to hug every one of them, but I couldn't because you have to be so cautious since the skin is so delicate."

The scene was almost too much for others, too.

Upon arriving at the reception, a family from Kansas City who had a newborn infant with the disease tried to leave. They also never had seen anyone with the more progressive forms of the disorder. Only a firm talk from their physician prevented their premature departure.

Despite these emotional jolts, Perez and other families seemed to gain confidence from the fact that they were meeting. For once, children wore smiles, not what one grandfather called "the face of gloom."

The 5-year-old DEBRA was making history -- bringing together the largest number of EB victims and their families ever, while providing a forum for the leading scientists researching what causes the disease and how to treat it.

As Dr. Laurence H. Miller, a scientist at the federal government's National Institute of Health (NIH) and chairperson of DEBRA's scientific board, said: "Few people, including physicians, know much about the disease."

Perez, who traveled to Washington with her mother, Nancy Anderson of Mission Village, and Cristina, said: "The most important thing, first of all, was the support. We felt so all alone before. It was nice to see all the other families."

Perez and her husband, Abelardo, 25, a native of a small village in the state of Chihuahua, Mexico, knew nothing of the disease until their child was born on July 4th, 1983. No one in their families has had it. In one of the genetic quirks that mark the disease, the parents carried hidden genes that matched up to produce a child of EB.

She was forced to take a leave from her computer job at Home Federal to provide the constant care Cristina requires. He works in construction. Much of the cost of Cristina's care -- like $400 per month in bandage bills -- is paid for by insurance, but the young couple say Abelardo's income doesn't leave much to supplement Cristina's care. They are not eligible for any governmental health programs now because of their income.

When the story of the Perez family was published last August, the San Diego community responded overwhelmingly. The Perezs say they have received contributions totaling more than $16,500. The largest contribution is from the San Diego Count Motor Officers Association, which held an auction that raised about $5,000.

Initially, Perez said she wasn't going to use any of the money to go to the DEBRA conference. But then the family changed their minds, because they thought that the $800 expense of the trip might produce something to help their daughter. Abelardo, who only speaks Spanish, stayed home because of the language difficulty.

There were no panaceas offered for the disorder at the conference, though -- just the hope that scientific breakthroughs will come.

After the conference, Perez said: "At least now I know the names of doctors and dentists who I can call to get opinions. I had found myself educating every doctor I went to."

That was a theme that was repeated by many at the conference, borne of the difficulty of treating a rare disease.

What was evident to those in attendance was the positive effects of the lobbying and efforts of DEBRA supporters, who had two of the most powerful legislators in Washington at the reception: Rep. Henry A Waxman, the Los Angeles Democrat who chairs the House Subcommittee on Health, and Sen. Mark O. Hatfield, the Oregon Republican who chairs of the Senate Appropriations Committee.

Both legislators played key roles in assisting DEBRA in ensuring $750,000 would be in the current NIH budget for research on EB, the first time the government has ever allocated a significant amount of money for EB research. Both also visibly were moved by the gathering of human suffering and hope.

Hatfield recalled that John F. Kennedy's announcement of his presidential candidacy and the Watergate hearings had taken place in the same caucus room where DEBRA's reception was held, a place therefore described as a place of "great joys and sorrows."

Then to the reception's largest round of applause, Hatfield asked for a prayer to "reorder priorities" to spend more on programs like health research than on defence.

"One is so overwhelmed by this disease," Hatfield said. "It is time to give a commitment to save life . . . not to destroy life."

That is what the $750,000 in grants for EB research is designed to do. However, as events of the DEBRA conference showed, the mere allocation of money doesn't solve the problem.

There are believed to be 18 to 20 different types of EB. According to DEBRA officials, there are a total between 25,000 to 50,000 people in the country with the various types. These types range from minor to deadly.

With the milder varieties, like simplex, blisters reoccur in localized areas (often hands and feet) without scarring. The two most severe types are called junctional and recessive dystrophic, which Cristina has.

Those with junctional can be covered with ulcerated areas that extend into the mouth and esophagus. Infants often die shortly after birth because of fluid loss. Some are born with pyloric atresia, where there is no opening from the stomach to the intestine, and need major surgery at birth to survive.

In recessive dystrophic, large areas can be without skin at birth, blisters can cover large areas of the body and over the years there is widespread scarring and deformity, with hands and feet becoming fused stumps.

To determine what is genetically causing the disorder and how the skin is defective, scientists are probing the biology of normal and diseased skin.

The outermost skin layer is called the epidermis, while the layer underneith is called dermis. Interest in EB centers on the "basement membrane zone," a microscopic area between the two layers of the skin.

In individuals with the milder forms of EB that don't cause scarring, micrscopic pictures show the skin splits away above the basement membrane zone. For those with the more severe varieties, the skin splits below the basement membrane zone in the dermis.

Exactly what causes these splits still is a mystery. There are hypotheses on the different types of EB. For the recessive dystrophic type, theories are focused along two lines:

* Some researchers believe that recessive dystrophic occurs from excessive levels of an enzyme called collagenase, a natural substance that controls the production of collagen, a protein that is the main supporting substance in the skin.

*Others feel that there is a defect in the structural proteins that hold the epidermis and dermis together. While these structural proteins -- called anchoring fibrils -- have been discovered, scientists haven't determined what they're made of yet.

In many respects, EB discoveries have been hampered by the fact that skin research itself is only just emerging from its infancy.

Dr Robert A. Briggaman, a professor of dermatology at the University of North Carolina, said at the DEBRA conference: "The last 10 years have been a real renaissance in terms of discoveries in the structure of the skin."

Now, however, skin research is a "hot item" in scientific communities, a researcher at the DEBRA conference said, because of what can be learned and applied to more common disorders -- like cancer, burns and wound healing.

Among those working to identify structures of the skin is Dr. Jouni Uitto, who is isolating genetically distinct types of collagen in his laboratory at the UCLA School of Medicine's southern campus near Torrance, Calif.

As recently as a decade ago, Uitto said, scientists believed that there was just one type of collagen, which makes up 70 to 80 percent of skin. Now they know there are numerous types of collagen, possibly as many as 20.

To illustrate how recent such information is, Uitto said that in the three weeks after he had prepared his discussion paper for the DEBRA conference the number of collagens identified had increased from eight to eleven.

"This indicates there is lots of work to do on the biology and structure of normal skin," Uitto said. "We are doing that now."

Research also is underway at UCLA to isolate and clone the gene -- or genes -- that cause EB. Such molecular probing also is underway at Washington University School of Medicine in St. Louis, Mo., where the DEBRA center for EB is located.

But to conquer EB the problem could well be securing patients who will participate in the studies -- a difficulty that currently is threatening research funding for the disorder.

Several years ago, Dr Eygene A. Bauer at Washington University did a study on a handful of EB patients showing that the drug Dilantin (used by epileptics) reduced skin blisters. Dilantin is known to retard the production of collagenase in the skin. It has a 50-50 chance of reducing blisters in individual EB patients, doctors say.

Last February, the federal Food and Drug Administration (FDA) funded a year-long study to solidify the effectiveness of Dilantin in reducing blisters. Without it, officials say, medical reference books and informational inserts in Dilantin packages couldn't include information on the drug's effectiveness in treating EB.

However, only 25 patients have come forward to participate in the study that has 100 openings at 24 medical centers (including UC Davis) around the nation, said Sheila Gibbons, a nurse at Washington University's EB center.

The reason EB patients aren't participating is a complex mesh of human suffering and scientific requirements.

The study of 100 patients requires that half receive the drug and half get a non-effective placebo. Those who already are using the drug must stop for about a month in a "wash-out period," Gibbons added.

But because of Bauer's earlier study, many doctors already are prescribing Dilantin for EB patients, particularly infants.

If patients go off the drug for the new study, they can have increased number of blisters during the wash-out period, or blisters for the length of the study if they are randomly placed in the placebo group, Gibbons said.

This has frightened patients away, Gibbons said, adding this is very understandable.

"If we don't get participation, the FDA won't budget the money next year," said Gibbons.

One family took their youngster off the drug to participate in the study, and the child got blisters so bad surgery was required for fused fingers, Gibbons said.

At this time, Perez said she will not participate in the Dilantin study. She says she's concerned about possible long-term side-effects. She now is trying natural diets to see how they work and exploring natural methods.

The situation involving the family of Arlene Pessar of Brooklyn, N.Y., the founder of DEBRA in the United States, also shows the sensitive nature of participation in EB research.

Pessar is the primary catalyst in spurring the NIH to allocate $750,000 for EB research. She expressed concerns this money won't be available for future research if patients don't participate in studies, like they havn't in the FDA study.

She told the families: "If they earmark funds and no patients come forward, everything we've done is for nothing."

Yet the trauma of the disease is such that her 14-year son, Eric, won't stop taking Dilantin, to be in the FDA study, she said. He has had so many skin biopsies, been experimented on so much and the Dilantin has been so helpful, he refuses to participate -- a move she honors. He has no side-effects from the drug, she added.

EB cases are replete with such difficult stories.

As the crowd started to thin at the DEBRA reception, and leftover hors d'oeuvres were being taken away to be donated to Washington's needy, the children of EB began to play.

They gestured with deformed hands, but giggled and joked like any other youngsters.

Once scene was particularly moving for those remaining in the crowd:

Bobby Lee of Bessemer, Ala., rode his yellow, battery-operated scooter up to H. Ray Caldwell Jr., of Longview, Texas.

Bobby, 14, who had a milder type of EB, says he is a "distant cousin" of Robert E. Lee, the Confederate general in the Civil War. Bobby's scooter helps him get around so blisters don't form on his feet.

Ray is a 5-year-old youngster with the most severe type of EB, junctional. There were red sections of flesh around his eyes like a mask. He stared out in wonderment.

Ray's mother, Jennifer Caldwell placed him on Bobby's lap. The two rode through the crowd. Even people who avoided looking at Ray because of his face couldn't help but watch the pair.

It was from such scenes of camaraderie that Cynthia Perez said she found the greatest strength to go forward with a child of EB. She said she came away with a renewed commitment to make more people aware of EB.

But most importantly, she wanted to find someone in San Diego with the disease. Talking about common problems seems to make things easier.

"I know someone must be out there. Maybe a shut-in, who hasn't come out of the closet. I'll find them hopefully," she said.

U.S. refuses to aid child with lethal skin ailment

Published Sunday, Aug 19, 1984

By Rex Dalton

There are few babies in the nation like Cristina Marie Perez.

The 12-month-old Poway infant was born with an extremely rare inherited skin disease that causes parts of her skin to blister and peel. Her hands and feet may become disfigured. Her fingers and toes eventually may fuse together, forming a mitten of scar tissue.

No more than 25 babies like Cristina are born in America each year. There is no cure for her condition, and no soothing medicines.

"She's such a good baby. I've never known such a well-behaved baby. we're just lucky she is alive," said Cristina's mother, Cindi Perez, sitting on the porch of the family's mobile home.

Cindi and Abelardo Perez, the baby's father, say they are determined to make the best of the ordeal -- providing the supportive care needed to keep tiny Cristina alive, spending $400 each month just for bandages, hoping for a drug or cure to ease her anguish.

But the federal government so far has refused to help them. Despite the gravity of the disease called epidermolysis bullosa, or EB, the Social Security Administration recently denied the child benefits -- contending her disease is not severe enough to warrant assistance.

A letter from federal officials said Cristina's disorder "has not developed to such a severe nature" for the family to receive supplemental security income benefits for the child.

Cindi, who is appealing the decision, is outraged. "What are they waiting for, her fingers to fuse together? It is an injustice," she said.

Cristina's disease is a genetic quirk of nature. Dr. Marilyn Jones, a geneticist at Children's Hospital, said EB is the result of abnormalities in the structure of skin, caused by altered genes. The outer skin cells are without the microscopic tentacles that bind them to the connective tissue, or collagen, underneith.

The cellular structure of the collagen is not in its normal pattern, and is in effect "disorganized." Doctors theorize that an excess of the enzyme collagenase damages the skin and collagen, prohibiting normal development.

There are an almost infinite variety of causes for altered genes, scientists say. In the milder form of EB, children and adults will have severe blisters on their bodies, but can lead relatively normal lives. In these people, the altered gene is passed to offspring by only one parent.

To produce the severe type of EB that Cristina has, both parents must carry the altered gene, geneticists say. Even then there is only one chance in four that an offspring will have recessive EB. Few people live long with the severe type. The victims usually succumb to infections, skin cancers or malnutrition caused by the inability to eat properly.

Cindi Perez, 27, grew up in Mission Village, in San Diego County, the daughter of people of Norwegian descent. Abelardo Perez, 25, now an employee of the Garza Construction Co. , grew up in the small village of Temosachic, Chihuahua, Mexico.

They came to know eachother while competing in pool tournaments at a San Diego club. "We met without speaking," said Cindi. "He speaks very little English. I spoke a little Spanish. I carried a Spanish dictionary on dates."

The chances of parents with the same altered genes coming together to produce a baby with recessive EB are astronomical, doctors say. For every 500,000 births in the United States, there is only one child born with recessive EB.

Cindi has a 7-year-old son named J.J. from a previous marriage who does not have EB.

"It was really hard on my husband when Cristina was born. He thought he carried the gene because J.J. was fine," said Cindi. They eventually learned they both carry the recessive gene, which does not harm either of them, but when combined in Cristina created havoc.

Cristina Marie Perez was born July 4, 1983, at Sharp Memorial Hospital in Kearny Mesa. She had no skin on her right leg, and her mouth was filled with blisters.

"I just couldn't understand how this could happen," said Cindi. "The doctor said it appeared to be a birthmark. He said he'd never seen anything like it. We never thought a disease like this could exist. No one in our families ever had it."

The child was transferred to adjacent Children's Hospital, where she stayed for nearly two months, accumulating a $55,000 bill. Their insurance covered virtually all of it. They were on the verge of closing escrow on a house, but had to back out because of the costs associated with Cristina's care.

"We had a very hard time when the child was in the hospital," said Cindi. "She was in isolation. We wanted so badly to touch our baby and hug her, but we couldn't."

By taking a skin biopsy three months after her birth, doctors at Children's confirmed recessive EB.

Dr. Jones said she knew of only one other case like Cristina's in the last 10 years in the county. The other patient, a 6-year-old boy, died in February, about 12 hours after contracting a virus, Patients elsewhere in the nation have lived into their 30s.

Life for the Perez's now revolves around care for Cristina. Cindi is on a leave of absence from her job at Home Federal. She is afraid that when she returns to work they will not be able to find adequate daytime care for Cristina. Now they live on Abelardo's salary.

The phases of development that normally bring joy to parents -- a child's growth, hesitant first steps, teething -- have brought more anxiety for the Perezs.

When Cristina stopped nursing, Cindi found that most foods hurt her daughter's esophagus, producing the same type of blistering that damages her outer skin. Cristina can only digest apple juice, finely processed beets, and carrots without developing blisters in her throat, her mother said.

Because of her skin's sensitivity to all contact, Cristina must have bandages on her arms and legs at all times. When Cristina started showing signs of walking, her mother tried putting oversized shoes on top of the bandages.

"It didn't work," Cindi said. "She got these real bad blisters on her feet. Walking for her is going to be difficult."

Sometimes patches of skin peel off, and Cristina will cry for a short time. She seems to have some inner resolve about the condition of her skin. After such incidents, she usually returns playing with her toys, acting like any normal infant.

When Cristina cut her first tooth, Cindi says she couldn't massage the infant's gums -- which many mothers do to comfort their children -- because that would cause the gums to blister.

Both Perezs have private insurance through work to pay most of the bills. Currently the family's principle medical expense is for bandages, costing them about $400 a month. Insurance pays for virtually all of that now, though it may not cover increased costs in the future.

In June, the Social Security program denied Cristina benefits.

Larry Murphy, a spokesman for the Social Security Administration office in San Francisco, said he couldn't explain why the child was denied benefits.

Murphy said Cristina's file contained the statement: "Medical evidence shows the child was not born with this condition." Yet Cindi possesses photographs of her daughter taken moments after birth showing the skinless right leg.

Geneticist Jones termed the Social Security decision "ridiculous ... this is a very rare condition. I'm sure the person who (reviewed the benefit application) has never seen a case, and doesn't know anything about the disease."

The Perezs continue their search for help. Cindi has corresponded with officials of the newly formed EB Center for Research and Therapy at Washington University in St. Louis. Dr. Eugene A. Bauer, head of the center, is attempting to clone the gene that causes EB so that a screening test can be devised.

No cure exists for some severe EB cases

Published Sunday, Aug 19, 1984

By Rex Dalton

Epidermolysis Bullosa, or EB, is among a group of about 1,000 genetic diseases, each of which has a relatively small number of cases.

No cure currently exists for some severe ones, such as Lesch-Nyhan syndrome, in which children compulsively mutilate themselves, or Tay-Sachs disease, which is common among Eastern European Jews and can lead to death.

Researchers have learned to modify the impact of other genetic diseases that once were thought incurable. Children born with phenylketonuria (PKU) can become mentally retarded and have other developmental problems, Now doctors can put those children on a simple diet to considerably lessen the impact of PKU.

An understanding of these rare genetic disease sheds light on what can happen when the body's infinitely delicate chemical structure gets thrown slightly out of balance.

Scientists say that genes exhibit our traits. Every individual has an estimated 100,000 genes in each cell in the body. And every individual is believed to have eight to ten "altered genes," which can be altered in hundreds of thousands of ways.

We normally have no problems because of our altered genes, scientists say. Altered genes present problems only when they're combined in the reproductive process with another altered gene. When that happens, when the sperm and egg cells from a father and mother combine to form an embryo, problems can arise such as the EB that affects Cristina Marie Perez.

Eligible, but can't collect

Published Sunday, Sep. 23, 1984

By Rex Dalton

The Social Security Administration has decided a young Poway girl with a rare, disfiguring skin disease is eligible for Supplemental Security Income benefits.

But Cindi and Abelardo Perez apparently won't be able to collect any SSI money to help their 15-month-old daughter, Cristina, because their personal incomes are too high.

"You have to be dirt poor to get anything from them," Cindi Perez said bitterly. "We have a child with a severe disease. I think the Social Security Administration should provide some assistance to borderline people like us."

Cristina has the most severe variety of epidermolysis bullosa, a genetic disorder in which the skin rubs off at the slightest pressure, When she was born she had no skin on her right leg, and her mouth was filled with blisters. She requires protective bandages on her arms and legs at all times to minimize the skin damage.

Her hands and feet may become disfigured because of the disease, and her fingers and toes eventually may fuse together, forming a "mitten" of scar tissue, doctors say. Fewer than two dozen infants a year are born with the disorder.

In June, the Perezs were notified by the Social Security Administration that Cristina was not eligible for SSI benefits because her disease was "not severe enough." A widely respected geneticist called that decision "rediculous."

In August The San Diego Union published Cristina's story.

On Sept. 7 Robert Fouts on the Social Security Administration's San Francisco office said the Perezs were told that Cristina was eligible for SSI benefits.

However, when the Perez's income was examined, it was determined they made too much to qualify, Fouts said.

Cindi Perez, 27, said the family's combined income is about $1,500 per month, which is close to the sliding threshold for receiving some SSI benefits.

Even if their income dropped slightly below the $1,500 per month total, Cindi Perez says, they would receive such a small amount from SSI it wouldn't be worth restricting how much they make.

"It was kind of depressing to learn that," she said.

Abelardo Perez, 25, is a construction worker. His wife is on a partially paid leave from Home Federal, and is due to return to work in November.

They have some private insurance coverage, but still have some costs they must pay associated with the $400 monthly bill for Cristina's bandages.

Since Cristina's story was published, the family has received more than $1,100 in unsolicited contributions from people in the San Diego area. The family has spent about $900 of this on medical expenses for Cristina.

A blind trust has been established for funds for Cristina, said Cindi Perez. The trust was set up so other efforts to get benefits for my daughter wouldn't be harmed, she said. Federal officials said that community contributions directly to the Perezs must be counted as income.

The family is currently seeking benefits through the state Medi-Cal and Crippled Children's Services programs, she added.