Thursday, February 29, 2024
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(Living with Treacher Syndrome)

Treacher Syndrome is a very rare cranio-facial condition that effects 1 in 50,000 births in the USA alone and sadly there is no way of knowing if your child is going to have it until the day of birth. This is one very little brave boys story, please meet Nathaniel.

As luck would have it, one beautiful night whilst out walking along the beach, both Magda and Russel would meet by chance, and shortly after marry. As with most young parents, the desire to add to their family came some three years later when Magda announced to Russel she was pregnant with their first child.

It is nearly midnight in a hospital in Manhattan where nurses in the delivery ward are urging one of the expectant mothers to keep trying, keep pushing. Magda Newman and her husband Russel have been in labour for hours. The endless waiting nearly just as agonising as the physical pain she is enduring.

Magda and Russel were both concerned, the delivery was taking far too long. The doctor just kept putting it down to it being her first delivery and that she wasn’t pushing hard enough. When the child inside her started showing signs of distress, the doctors made an on the spot decision to do a caesarean.

Once the child was delivered, life for both these parents, would change forever.

Russel’s first thought after seeing his new born son was that he didn’t even look like a human being. A crushing blow to a dream of parenthood that itself had only been born some three years earlier. Magda had a seemingly trouble free pregnancy. Magda was 24 years old, she appeared in the best of health, so why would doctors have reason for concern. She was in the ultimate low risk pregnancy category, so no extra testing was required. Her later diagnosis did not show up on any of Magda’s pre-natal scans – a common occurrence in cases of Treacher Collins.

Back in the operating room after 17 hours of labour, happiness turns to despair and horror. Russel doesn’t recall fainting, but he certainly recalls screaming at the top of his voice “oh my god, oh my god”. Still unaware of what is happening, Magda began reading peoples facial expressions, and knew something was majorly wrong. The baby was removed and immediately taken to another room. Magda at this stage watched as 20 or so people ran into the room. She feared the worst as she still hadn’t heard the baby cry. Her continued questions “Is he alive?, What is wrong? I want to see my baby?” go unanswered by hospital staff. They didn’t want to show her, her own baby.

Russel recalls Nathanial had no distinctive cheek bones, no upper or lower eyelids. He also had no eye sockets, ears, and had a severely undeveloped jaw. His face was totally disfigured and even more terrifying, Nathanial is not breathing. Magda is at this stage was left in the delivery room as doctors frantically try to save the baby’s life. His nasal passageway is nearly solid bone and his airway is so narrow it was like trying to breathe through a soda straw. Eating would also become problematic. Regardless of all the negatives, one positive would remain, Nathaniel’s brain function was completely unaffected.

Whilst this was all going on, a doctor called Russel out of the operating room and began to flick through an old book, written in the 60’s with black and white pictures. He recalls looking at the pictures of teenage children with Treacher Collins Syndrome, thinking to himself “that is what my child is going to look like”.

After officially naming their child Nathanial, they made contact with the Institute of Reconstructive Plastic Surgery at NYU Langone Medical Centre, a leading hospital working with children with this rare condition. Russel leaves a message and within hours receives a call back. The person on the other end of the phone was Shelly Cohen a speech and language therapist who immediately says “Hey, Mr. Newman, You had a baby boy, I heard. That’s wonderful.”

This was the first time the new parents had been congratulated on their son’s birth. Russel recalls thinking “are you freaking nuts?”. People were still in shock, paralysed in their own bodies, not knowing what to do next. Shelly told Russel that his son was going to live a long, healthy, happy, wonderful life and Russel believed every word of it.

Nathanial is transferred to the Neonatal Intensive Care Unit at NCIU and it is here where he will spend the first month of his life. The Newman’s here meet a nurse named Pat Chibbaro. Pat recalls how distraught the parents were. They kept asking when is the surgery going to take place to make this all go away and make their son normal.

This was when she explained to them that its going to be a journey, it’s not just one quick fix surgery. And for the Newman’s, the journey was just beginning. Then something happened that would give them hope, hope that would remain with them through the course of Nathanial’s treatments, and the years ahead. Whilst in the hospital, Russel was watching the Grammy Awards on the tv, and the show opens with Christina Aguilera and she was performing her latest hit ‘Beautiful”. Russel recalls the lyrics, “I am beautiful, no matter what they say, words can’t bring me down”. It was at this moment they believed that their son would be beautiful, not because of his appearance but because of who he was inside. Once they listened to the performance by Christina, they immediately went to see their son, and this was the first time they held onto his little hand and Russel recalls how awesome it felt.

Right there and then, both parents made a pledge to each other and their son that they would always see the beauty in him and would never hide him from the world or hide the world from him.

Magda recalls that it would take nearly a year before she could bring herself to look into Nathaniel’s beautiful little face without flinching or crying.

Later Nathaniel would undergo some 10 surgeries to improve his quality of life that his mother described as brutal, where they had to break most of the bones in his face so they could be reset and make it easier for him to breathe. After several failed surgical attempts to open his nasal passages, an emergency tracheotomy was performed on Nathaniel – a surgical procedure in which an incision is made in the trachea creating a direct airway. It is a procedure as life-altering as it is life-saving.

Once your life becomes dependent on a trach, your life changes completely. Both Nathaniel’s brain and body must now learn to breath in a totally different way to what the body wants. He also becomes prone to infection. Bathing can be very scary, and particular care must be taken to avoid water entering the trach tube.

Both parents also had to work out a roster where they would share shifts, so they could constantly monitor their fragile sons sleeping through the night..

Keeping to her word, Magda was committed to giving Nathaniel as normal life she possibly could, so when she took her son for walks in the stroller, people would approach and ask to see the baby. She never once heard “oh he’s cute, or congratulations”, it was more “Oh god bless you”.   It was gut wrenching.

By the time Nathaniel was two, both parents started talking about having another child, a decision they didn’t take lightly. There was still a 50-50 chance their second child would also be born with Treacher Collins Syndrome also. They embarked on a path of endless tests, hoping to ensure that it would not become a repeat performance. Both parents DNA was sent off to John Hopkins and when the result came back that there was a 99 per cent chance their next child would not be affected by Treacher Collins, they tried to become pregnant almost immediately.

The birth of their second son in the delivery room would be nothing like the first.   From the moment Magda arrived at the hospital, she knew it would be a quick delivery. Some twenty minutes later, they were celebrating the birth of their second son Jacob without complications. Russel recalls how different the two boys looked at their moment of birth. Jacob looked like a porcelain doll, where Nathaniel looked disfigured and alien like.

When Nathaniel turned five, this was when he first realised he looked different to everyone else and became conscious of his own face.   The realisation would come at school when another little boy called him a ‘Monster”. Nathaniel was insulted, but his parent helped him realize that the kids didn’t really know what they were saying, and that they were really a product of their parents because they did nothing to correct them.

By the time Nathaniel turned 11, he had endured 54 surgeries, and isn’t really bothered any more about his features. He has learnt to accept it, and thinks of himself as more unique than disfigured.

In 2015, Nathaniel began 6th grade at B.D. Billinghurst Middle School in Reno, Nevada. This meant he would be subjected once again to a room full of children he had never met before, but this time his parents had a plan.

To ease the transition, the Newman’s came up with a plan to have Nathaniel write a letter to his classmates explaining his condition, but also that he was as normal as any of them. In the letter Nathaniel told his classmates that he had three dogs and liked Pokemon and Star Wars. In the letter they also included a current picture of Nathaniel in the hope of avoiding any first day shock, but they also included a copy of the book “Wonder”. “Wonder” by RJ Palacio, a novel published in 2012 has sold more than 5 million copies and been translated into 45 languages. The book is based around a little girl that Palacio had the chance encounter with, with severe facial deformity. This was when Nathaniel adopted the nick-name “Wonderboy”.

After nearly 60 surgeries, Nathaniel’s parents make the agonising decision to meet with surgeons at Seattle Children’s Hospital to perform radical surgery to open up Nathaniel’s airway enough to finally remove his trach. This meant, that Dr Richard Hopper, the Chief surgeon at the hospitals Craniofacial centre, would have to rearrange the bones in Nathaniel’s face. Children with a tracheostomy live in constant fear of this small plastic tube becoming dislodged or blocked with mucous, which can be life threatening. It is a very stressful existence for a patient and their family, especially in very young children. Having a tracheotomy also makes important life experiences such as swimming, playing contact sports, or even sometimes speaking or swallowing more challenging and occasionally impossible.”

As with all Nathaniel’s surgeries prior, his father would carry his son into the operating room. “It never gets easier. Putting your son on a metal table, surrounded by things that are going to cut him open,” Russel is quoted saying.

During the 12-hour surgery doctors separated Nathaniel’s skull from his face and moved it into the correct position, anchoring the bones in place with a metal halo that would remain attached to his head for three months. When Nathaniel woke up, his jaw was wired shut to the halo and he could not eat or speak. Attached to that halo were tiny turning devices that Russel and Magda were required to screw three times a day to continue the excruciatingly slow process of moving Nathaniel’s face.

The whole process had the Newman’s second guessing if they had in fact made the right decision for their son. In August of 2016, doctors finally removed the metal halo from Nathaniel’s head. The day they had long been waiting for finally arrived. Nathaniel’s tracheostomy was removed. He was able to breathe through an unobstructed airway for the first time in nearly 13 years. In 30 seconds, the tracheostomy that had been with Nathaniel his whole life was gone, and the hole in his neck was patched up with a simple bandage.

After thirteen years living with the trach, the struggle and perseverance finally paid off, and a dream was now a reality.

Nathaniel Newman (living With Treacher Syndrome)

This year Nathaniel started 8th grade, and as with previous years, the Newman family would write a letter to Nathaniel’s teacher and fellow students describing Treacher Collins Syndrome and the long medical journey Nathaniel has faced throughout his life. This year however, they decided not to write a letter. Nathaniel wanted his fellow classmates to accept him for who he is, a creative, compassionate, normal teenager and not let his medical history define him.

A truly amazing story and inspiring little man. We will continue to follow Nathaniel’s journey into adulthood.

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