Strength and determination|
Rare genetic disease doesn't dampen family's optimism
By Yvonne Bendo [The Daily News]
As the Vella-Zarbs prepare to celebrate Ashley's second birthday Friday, they're marking more than just a childhood milestone.
The family of this Chatham youngster, who was born with a rare genetic disease, recognize her life is a miracle and each day is a gift they treasure.
"Ashley's beaten the odds so many times already," Annette said of her daughter, who has Pfeiffer Syndrome Type II.
At first glance, you can't help but notice the unusual cone shape of Ashley's head — both hallmarks of the disease which results in skull deformities, bulging eyes due to shallow eye sockets, underdevelopment of the mid-face and broad, short thumbs and big toes.
Annette Vella-Zarb holds daughter Ashley whose head and skull deformities are caused by Pfeiffer Syndrome Type II
The Center for Craniofacial Development and Disorders in the United States indicates those with Pfeiffer Syndrome Type II have "a high likelihood of neurological problems."Family fights back against rare genetic Pfeiffer Syndrome.
The Vella-Zarbs are aware of the poor prognosis outlined in the medical literature, but that doesn't sway their optimism. "It says they do poorly and have an early death," Joanne Vella-Zarb said of the disease her granddaughter was diagnosed with 2½ months after she was born.
"You have to be optimistic," Joanne said. "You don't know what the future will bring for Ashley.
"You look at her and you look at other kids out there and say how lucky they are and you look at Ashley and think she's the biggest sweetheart there is."
"You're lucky to have Ashley too," Annette quickly added.
"Ashley's already amazed them," she said of how her daughter has fared during her first two years of life. She marvels at the strength and determination of her young daughter as well as medical advancements which have helped Ashley thus far.
Craniofacial surgery is giving new shape to Ashley Vella-Zarb's life. It's the second time doctors at The Hospital for Sick Children in Toronto have tackled the head and facial deformities which are a result of the rare genetic disease the two-year-old Chatham girl was born with.The eight-hour surgery on April 14 involved a highly skilled team including Dr. John Phillips, a plastic surgeon specializing in craniofacial surgery, and neurosurgeon Dr. Peter Derks. For Annette, the surgery wasn't a fear for her daughter's life, but excitement over how it would change her appearance."You get used to seeing she has a bump on her forehead, the indentations on the side of her head ... you get so used to seeing Ashley one way and all of a sudden she looks so different," Annette said."Honestly, I didn't know what to expect. I knew they were going to give her a forehead and fix the sides ... but you can't picture that in your head, what Ashley would look like."Doctors removed about 15 millimetres from the height of Ashley's head, Annette said, adding she really notices the difference when her daughter is sifting on her lap. She can't use Ashley's head as a chin rest as easily these days, she said, while snuggling her daughter close.
Ashley is fed through a gastrointestinal tube, she has a tracheotomy for breathing.
The surgery reduced the height of Ashley's head by 15 mm and pulled her eye sockets out further.
She can't speak because of paralyzed vocal chords, a result of numerous intubations, her mother explained. While Annette knows she likely won't hear her daughter say mom without some form of medical intervention, she says her daughter does make noises which are clearly a cry and a laugh.
Ashley communicates with a big smile she shows she's happy, tears welling up in her eyes indicate that she's sad and a big pout shows when she's unhappy She's also independnnt and will roll away from you when she wants to be alone and play with her toys.
Ashley doesn't crawl, as the disease also affects her elbows which don't bend. But she shows signs of venting to move and appears to use her shoulders more than the average person would.
Noting there's no physical reason why Ashley can't walk, her mother is optimistic someday she will stand and take some steps.
With Ashley's most recent craniofacial surgery, Annette's already seeing improvements in her daugher's balance. Her head doesn't "wobble" as much, Annette said, adding it's not is heavy now.
Phillips, in a telephone interview with The Chatham Daily News, explained the surgery was necessary both to physically change the shape of Ashley's head and also for "decompression of the skull so the brain could expand.
"Basically with her condition... she has restriction in the growth of the skull," the surgeon explained.
Phillips said growth in Ashley's midface areas — the nose, check bones and jaw — is also restricted. He said her forehead was "advanced" and her eye balls protrude because the orbit cones "aren't advanced far enough forward to cover them."
Thumbs up - Ashley Vella-Zarb who turns two on Friday, is absorbed with the design on her shirt, while mother, Annette, 24, describes how the shape of her daughter's thumbs is one of the signs of Pfeiffer's sydrome which causes deformities of the head, skull, and face. The above picture shows Ashley before her April 14 craniofacial surgery, including the cloverleaf indentation on her forehead.
The surgery involved an incision at the back of Ashley's head running from one ear to the other. Phillips said the idea is to not leave a visible scar. The incision goes down to the thin covering of the bone of the skull and it was pulled forward giving access to the top of the head and the face to the bridge of the nose.
The surgery, Phillips explained, is a team-effort. He added Derks worked to remove the "cranial bone."
The aim is to reconstruct a more normal skull shape Phillips said. He said this is necessary because Ashley's brain is "increased in height and decreased in dimension."In describing his work, Phillips said, "you basically have an idea in your mind of what a normal shape of an orbit and skull look like basically you try to create that at the time of surgery by bending and changing the positions and shape of the bone that's taken off. While attempting to make it easier to understand, the surgeon compared his work to fine carpentry: "With the material that you have, you're trying to create a more normal shape and position," he explained. The latest surgery is over, but the work is far from complete. There's no skull bone on the back of Ashley's head. Phillips said the bone will redevelop in younger people and Ashley will be fitted with a moulding helmet -- a lighter version of a hockey-like helmet — to help shape that bone as it grows.The helmet, which she'll be fitted for on Friday, will also "by gentle gradual pressure ... continue to decrease the vertical height and decrease the posterior width of the skull," Phillips explained. He said, they'll know it's working if it has to be adjusted. "It gives Ashley's brain more of a normal growth, instead of growing up and up like it was doing it can grow up and out," Annette explained. Phillips believes children like Ashley fare better these days because of the team approach in their medical treatment — including the physicians and other health care professionals. He also believes medical advancements, including the types of screws and plates now used in surgery, have helped improve treatment. Phillips said Ashley will have to undergo at least two more major surgeries - another craniofacial surgery and likely another to pull out her midface.
"The plan we go for is you want to normalize the child as much as possible and you want them to be able to exist in a normal social environment," he said.
While great strides have been made surgically, Phillips admits there's numerous social challenges that Ashley will have to face.
He stressed that Pfeiffer Syndrome is a genetic disorder caused by a spontaneous mutation of one gene.
Fun moments - Ashley Vella-Zarb plays patty-cake on the lap of her grandmother Joanne, while her mother Annette watches on. The Chatham youngster recently underwent a craniofacial operation to correct some of the effects of Pfeiffer Syndrome.
"That's not because mom did anything ... it's just a really rare mutation that occurs," he said, adding it strikes about 15 in one million live births.
Of all the patients Phillips sees through Sick Kids hospital, he said only about 10 have Pfeiffer Syndrome.
He's involved in about 50 to 70 craniofacial surgeries a year, noting fortunately for most of these children it's a one-time surgery and they move on to live a normal life.
Ashley has benefitted from having a very supportive mother, Phillips said, acknowledging the pressures faced by parents of these special children.
"The hardest part for parents is other adults and their reaction. You often see kids who are with other kids when they're like three or four and they have a facial difference, but the other kids aren't the problem. It's the adults and their reaction to the child and then to the other parents," Phillips said.
"In our society unfortunately ... people with facial deformities are not treated as normal, the surgeon said. "I think people react in an extreme way when it's a facial difference.
He added Sick Kids' social workers work with families and the community to increase public awareness of facial deformities in hopes of making it easier on these individuals.
Phillips believes supportive parents make a huge difference in a child's future.
He believes a good supportive relationship between the parents and the child will help the child integrate better.
If you have a very supportive, involved, reassuring parent ... the kid will go further," Phillips added.
Annette looks to the future — will Ashley try to walk? Will she ever talk or will they communicate in another way, such as through sign language?
Annette said the surgeons will never be able to bring it (the head) to a so-called normal person.
"She will never have a normal face, but she'll look more typical," she said.
As that happens, Annette hopes it will be easier for her daughter to be around other children.
She's aware of the problems Ashley will face, as she converses online with parents of children with similar problems.
"I hear about kids starting school have problems,making friends, getting made fun of," she said.
She knows it will be hard because there won't be others for Ashley to lean on — at least not in the area.
Annette isn't aware of any other child in the area with Pfeiffer Syndrome. In fact, the closest family she's found with a similar genetic disease is a Windsor family, whose son has Aperts Syndrome, which is in the same family of genetic disorders.
Online, she's also met a Connecticut family whose daughter Ava is three months older than Ashley and they have the same disease and the same problems.
It's nice for Ashley to have a friend with similar struggles, Annette said, hoping that someday they'll actually meet.
Annette gets support from her boyfriend, as well as family and friends.
She also has a respite worker who comes in three days a week, and a VON nurse overnight because of Ashley's tracheotomy.
Ashley also goes to the PRISM Centre for physiotherapy and occupational therapy and later this year, Ashley is expected to go to a Toronto rehabilitative centre for a two or three month period. As an inpatient, Annette expects the therapy will help jumpstart her daughter's development.
For now, Ashley hasn't interacted with other children.
Public outings are limited and at times, Annette admits they're difficult as people stare and whisper. Admitting it makes it hard and that she'd simply prefer if people would politely ask about her daughter, Annette remains upbeat.
She also hopes the latest surgical changes will make it easier. Even after all she's been through she still manages to have a smile on her face," Annette said, looking lovingly at her daughter Ashley.
That makes it all worth it ... just seeing her smile.
Surgery - Ashley Vella-Zarb underwent an operation to reduce the height of her head by 15 mm
Photography by Diane Martin
We could all learn from Ashley
Each of us hopes that during our lifetime we somehow make a difference; that our being here makes this world a better place.
For most if us, it's a result of years of hard work.
Ashley Vella-Zarb has already achieved it during her first two years of life.
It hasn't come through her words or her actions — merely through who she is.
She can't talk or walk, but her mere presence speaks volumes.
This young Chatham girl can't help but leave an impression on everyone she meets.
She reminds us of basic human goodness — compassion, understanding and true beauty.
She's also a reminder of human cruelty and those things we learn that don't make us better people.
Ashley's mom Annette first called The Chatham Daily News a year ago wanting an article done to raise awareness about her daughter's condition — a rare genetic disease known as Pfeiffer Syndrome.
Ashley's unusual-shaped head and protruding eyes are just some of the visible signs of the disease. She now also has a tracheotomy.
This makes it hard for Annette to take her daughter out into the community where she's met with stares and whispers. At times, she's also subjected to rude comments.
Annette hoped through under-standing, people would be more accepting of her and her daughter.
But Ashley got sick and the story was delayed.
As she recovered and the story of her latest surgery unfolded, this family's courage became evident.
Time spent with this family was eye-opening and a true reminder of what's really important in life.
I asked Ashley's grandmother Joanne what the experience has taught her. She responded that it's a lesson in life.
"The beauty of an individual is more than skin deep," she said, adding it's also essential not to take life for granted.
"Ashley has taught me that, honestly, it doesn't matter what you look like; it's what's inside that counts," her mother added.
When it comes to the cliche don't judge a book by its cover, Annette said that "fits Ashley to a `T'." Just because she looks a little bit different, she still has feelings, she still laughs at you, she knows her own name."
With Ashley's condition, the Vella-Zarbs don't know what tomorrow brings.
It's like a shadow that looms over the family, so they treasure every day.
Those are things too many of us forget when we're caught up in the stress and pressure of everyday life.
A physician I interviewed for the story reminded me that a group of children playing together wouldn't notice if one had a facial deformity.
Intolerance is something we learn - and one lesson I hope most of us could forget.