Three-year-old Cassidy Nicholas is getting ready to start pre-school in September. She loves to dance and sing. She’s learning how to swim. She is outgoing, happy, and prone to hugging. She has also had so many surgeries, her parents have almost lost count.
Cassidy Nicholas was born with Treacher Collins syndrome, a rare genetic disorder in which facial tissue and bones fail to completely develop, due to a difference in the 5th chromosome. The National Library of Medicine estimates Treacher Collins syndrome (TCS) affects 1 in 50,000 people. Some TCS cases are mild—almost unnoticeable—and little to no action is needed. Others, like Cassidy’s, are more severe. She entered the world with no viable airway, an undersized jaw (resulting in constant choking on her tongue), a cleft palate, no cheekbones, earlobes, ear canals, eardrums, or inner ear bones, and minimal ability to hear.
Cassidy’s TCS was a complete shock to her parents. She was born seven weeks early, arriving the day of her mother Eva’s baby shower. “Eva’s water broke,” Cassidy’s father Jeremy recalls, “we went to the hospital, and the doctor said, ‘Cassidy will be here late at night.’” Labor progressed, but “Cassidy’s vitals were dropping. They did a C-section, took Cass out,” but heard no sound from their baby.
“The crash team came in, and I looked over and saw that they were resuscitating her on the table, giving her CPR. We waited and finally heard her cry. I remember one of the doctors said to me, ‘She doesn’t have any ears.’”
While trying to process all that was happening, Lawrence General’s medical team rushed Cassidy to their Special Care Nursery. “I didn’t even know what to think,” says Jeremy. “Everyone was freaking out.”
“Thank God Eva had had an emergency C-section, and the NICU team was there,” continues Jeremy, otherwise, “Cassidy would have died or had severe brain damage, because she couldn’t breathe.”
Doctors soon told Eva and Jeremy they planned to transfer Cassidy to Tufts Children's Hospital at Tufts Medical Center for specialized care. Jeremy accompanied Cassidy while Eva recovered from labor and delivery at Lawrence General. Via quick Internet research en route, Jeremy says, “I came to the conclusion that she had Treacher Collins syndrome.”
This diagnosis was also immediately apparent to Dr. Andrew Scott, Pediatric Otolaryngologist at Tufts Children's Hospital, who has overseen Cassidy’s care since her arrival there. “Upon entering the room and seeing her on the ventilator, I knew she had TCS,” Dr. Scott recalls. “I did not know to what extent (degree of symptoms) and ordered a CT scan that day to assess her jaw joints and other facial bones.”
Mapping Out A Plan
“Once I saw the result of the CT scan—no jaw joints, choanal atresia (incomplete nasal passages), aural atresia (no ear canals) without much middle ear, I knew she would need a tracheotomy and that jaw surgery was not an option for her for many years. I also knew we wouldn’t be recommending surgery to build an ear canal—even if we did, her middle ear malformations would still require hearing aids,” says Scott.
When she was three days old, Dr. Scott performed Cassidy’s tracheotomy—connecting a long-term breathing tube to her windpipe via a small surgical opening in the front of her neck—a routine procedure, yet delicate, given her preemie size. “She was quite small,” he says, “but I didn’t think it was safe to wait any longer,” as any complication from her temporary intubation could have been life-threatening.
“Once we got the tracheotomy in and secured her airway, we could start fixing things in a stepwise approach,” Scott continues. “My goal was to give her access to sound (hearing aids) and then work on opening up her nasal passages. I then wanted to get her tolerating a speaking valve for her tracheotomy so she could talk. Then we would plan on fixing her cleft palate around a year of age.”
“I referred her to Genetics to confirm diagnosis and test the parents—for counseling them about odds of having another child with TCS. I also sent her to Ophthalmalogy to have her eyes checked and her double vision addressed as much as possible. Audiology continued to monitor her hearing and adjust hearing aids as necessary.”
At one month, Pediatric General Surgery gave Cassidy a gastrostomy (feeding) tube, through her abdomen to her stomach. Scott explains, “With her being premature, having no nasal airway, and a very small jaw, I knew it would be unlikely that she’d be able to eat in the near future. The NICU team agreed and the g-tube was placed accordingly.”
“She was in the NICU for six weeks,” says Jeremy. “It was rough on us. The first week was really rough.” Yet, “I never questioned why it happened. I was just like, alright, this is part of my plan from God, and I’ve just gotta go through with it.”
A Series of Surgeries
Though Cassidy went home with her parents after those first six weeks in the NICU, she has been in and out of the hospital for doctor appointments and Dr. Scott’s carefully planned operations. Choanal atresia surgery at nine months opened her nasal cavities, strabismus surgery at 10 months addressed her double vision, and a cleft palate correction at 22 months improved her speech.
Dr. Scott repaired the cleft palate “on the late side, as she has limited jaw opening and it was impossible to get into her mouth until she was a little bigger.” He performed Cassidy’s choanal atresia procedure to “improve feeding and make it more likely to be able to breathe without the tracheotomy at some point.”
“Over the past two years, I have been working toward the goal of removing the tracheotomy. We are still one major surgery away from doing this,” Scott says, namely, a “mandible reconstruction with bilateral rib grafts,” which would typically be performed in mid-childhood. “In TCS, the mandible (jaw) has no growth center so it grows very slowly compared to other structures. To treat this, we will take bone and cartilage from her ribs, which do grow normally, and transpose them to her jaw and jaw joints.”
This procedure will begin Cassidy’s passage to the next phase of surgeries—more elective in nature, though, Dr. Scott is quick to point out, “I would not consider any surgeries for TCS cosmetic. They would be considered reconstructive. Cassidy is one of the more severe cases I have seen. We would be trying to make Cassidy look more ‘normal’…not trying to make her look like a supermodel.”
He ticks off the list of projected reconstructive surgeries once her bones have sufficiently developed: “microtia repair (making her ears, after age 6), bone-anchored hearing aid (BAHA) placement in both ears (after age 5), likely additional jaw surgeries to fine tune symmetry (as the ribs do not always grow evenly once they have been attached to the jaw (age 10 or so and potentially again in teen years),” and cheek and nasal rebuilding, typically in early adolescence. Grafting rib or skull bone, and/or supplementing with titanium structuring around her eyes would correct their droopy appearance, adds Jeremy, and another surgery may be performed to fully open her eyes, since her eyelids aren’t completely formed.
As she grows, Cassidy “will continue to be followed by our multidisciplinary cleft and craniofacial team on a yearly basis. On top of that, I will see her every six months or so,” says Dr. Scott.
“Cass handles it like a champ,” says Jeremy of her ongoing doctor visits. At Tufts Children's Hospital, “everyone knows her,” and she is warm and friendly to all. “She’s used to being handled by people all the time.”
Dr. Scott points out the visits would be more frequent elsewhere. “At other pediatric hospitals, it would be reasonable to assume that Cassidy would have separate providers—with separate appointments and co-pays—for her craniofacial, airway, and hearing needs,” he says. “The Tufts MC model reduces their office visits by two thirds—upwards of six to eight fewer clinic appointments each year, meaning six to eight fewer missed school days and days off work—not to mention transportation and parking fees for the parents each year.”
“The fact that Cassidy is able to receive all of her complex craniofacial, airway, hearing, swallowing, and voice related needs through one office is truly unique,” he continues. “During each of her visits, we manage each one of these issues. Serving as this child’s medical home is challenging and fun for me as a physician and surgeon. I hope to continue to care for Cassidy into her college years.”
“We love Dr. Scott. He’s awesome. I got a good vibe off of him right away,” Jeremy says. “I put her life in his hands, and I trusted him. If he moved, we’d move with him. We have that much trust and faith in him. He legitimately cares for Cassidy. He’s the first doctor we met at Tufts MC and we’ve been with him since.”
Jeremy and Eva equally admire the rest of Cassidy’s support crew. “The NICU at Tufts was awesome. They totally set us up. We had a great nursing team,” says Jeremy, specifically citing Anne Marie Melino, Debbie Connolly, Cathy Debartolomeis, and Joan Watkins, who coordinated all paperwork. Even today, “every time we go down there, we go and visit them.”
Their gratitude extends beyond the medical staff. “One of the chaplains at Tufts MC, Mary Flanagan, was an angel for us while there in the NICU,” Jeremy continues. “She baptized Cassidy before she went in for her tracheotomy. Mary came to visit us every day and she helped us a great deal spiritually.”
A Team Effort
Though immediately after her birth, Jeremy and Eva wondered if they would need to sell their house to defray Cassidy’s care, they have managed to make ends meet. “We’re basically just kind of getting by,” says Jeremy. “We work hard, and we’ve paid off our debts. We can make our mortgage payments and feed the kids, so we keep it simple. We’re doing our best.”
Eva juggles hands-on child care with a few events worked each month for a nearby country club, while Jeremy logs 60-70 weekly hours managing Salisbury’s Sylvan Street Grille, where he says owners “Ernie and Louanne have been phenomenal—very flexible; very supportive.”
The Nicholases have turned to fundraising to help offset the costs of Cassidy’s future procedures, forming Cassidy’s Crusaders, establishing an always-open PayPal link (gratefully accepting any contribution), and organizing the annual Cassidy's 5K and Fun Walk, hosted by Salisbury’s Winner's Circle Running Club. With all this, Jeremy hopes, “When the time comes, we can afford to have her surgeries.”
This year’s 5K, slated for September 26, 2015, may benefit from the shine of a spotlight. Jono Lancaster, a British man with TCS who gained international press traveling through Australia and New Zealand in 2014 to raise awareness about the condition (a story that went viral when Ashton Kutcher posted about it on Facebook), will embark on a similar trip in the U.S. two days before Cassidy’s 5K, and has just announced plans to stay with the Nicholas family for a few days.
Despite the emotional ups and downs of the past three years, Eva and Jeremy radiate the strength of two parents united by unconditional devotion to their child. “We’re doing well,” says Jeremy. “It hasn’t been easy, but we’re up to the challenge. Cass couldn’t have gotten a better mom than Eva.” (A sentiment he repeats more than once in conversation about his wife and daughter.) “A lot of marriages would fail in this situation because it’s not that easy. Eva and I, we’re solid as a rock.”
Perhaps this is, in part, because they are forever focused on the positive—and on aspirations to help others with TCS down the road. “We’re fortunate we live in Boston,” says Jeremy. “We’re in contact with a lot of other people…in the middle of nowhere. They don’t have MassHealth. They don’t have Dr. Scott. My goal is to start the Cassidy Cares Foundation and help those people across the country who don’t have the money.”
“Cassidy’s parents are an inspiration,” says Dr. Scott. “Their love for her and her little brother is a wonder to behold. They advocate for her while still empowering her, and they treat her like any other child in a fashion that will go a long way into building her confidence and strong sense of identity.”
Brilliant. Beautiful. Beloved.
Beyond Cassidy’s structural imperfections, “everything about her is normal—it’s just the facial bone structure and inside,” says Jeremy. “Mentally she’s brilliant—she’s really smart,” and exudes affection. She dotes on healthy baby brother, Cam, who will turn one in October. “She absolutely loves him. She takes care of him and stuff. When he cries, she pets him.” And “she loves people. She’ll go up and hug everybody. Everyone loves Cassidy.”
Dr. Scott couldn’t agree more. “Cassidy is a joy,” he says. “She is a favorite of everyone who knows her and a beautiful, brilliant kid with an incredible family and support network. She is already a superstar and has an excellent prognosis. She has faced the early years of her reconstructive journey with bravery and grace. It’s been a privilege for me to be a part of this journey from its beginnings. I am confident that she will find her way through the difficulties of having so many surgeries in childhood as well as living with a craniofacial condition.”
Dr. Scott’s assurance is helpful to Jeremy, who admits occasional concerns about future societal acceptance. “There’s gonna come that time when people are gonna make fun of her, because she looks different,” he says. “I don’t even like to think about it because it upsets me. It’s up to us to teach her self-confidence and the ability to get by that and not let it ruin her life.” As for the projected operations, Jeremy and Eva plan to let Cassidy lead the charge. “I don’t want to just put her under surgery,” unless it’s what she wants, says Jeremy.
“In the end,” says Dr. Scott, “I think her condition will give her a strong sense of confidence and identity. Like other TCS people, I think she will grow up to have a family of her own and contribute to her community in a very positive way.”
“She’s an old soul,” adds Jeremy. “She’s special, and she was put on this earth for a reason. I think she’s gonna do big things. I really do. There’s just something about her.”
Given the opportunity, “neither of us [Eva or I] would change anything because she’s that awesome,” Jeremy says. “We feel blessed and we feel honored that we were chosen to be her parents.”
To follow Cassidy’s journey, visit: http://tinyurl.com/CassidysCrusaders