Christmas will be extra special for eight-year-old Abi Tomkinson and her family thanks to a life-changing piece of surgery – the first of its kind ever performed in Europe – at Birmingham Children’s Hospital.
Abi, from Cannock, Staffordshire, was born with Treacher Collins Syndrome (TCS), a rare genetic condition that affects the development of bones and tissues in the face before birth. The condition, which is estimated to affect 1 in 50,000 people, received international attention through the 2017 film Wonder.
Abi’s condition not only affected her facial features but also her airway too, which meant at just three-months-old she was transferred to the Children’s Hospital when its dedicated Ear, Nose and Throat team performed a life-saving tracheostomy procedure that involves an opening being made at the front of the neck for a tube to be inserted into the windpipe to aid breathing.
Mum, Amanda Tomkinson, explained:
“When Abi was born her condition was a complete surprise but due to the expertise and sheer dedication of Birmingham Children’s Hospital following, what can only be described as a horrific first three months of Abi's life, they saved her life.
“From that moment, life was never the same and we prepared ourselves that ‘trachy’ life would remain with us until Abi's late teens if not longer.”
Despite things improving, due to her TCS Abi found it difficult to speak and eat without support throughout her life.
In 2018, Abi’s family were approached by the Children’s Hospital’s Mr Kevin McMillan and Mr Rhodri Williams, Consultant Oral and Maxillofacial Surgeons, who discussed a pioneering surgery - Subcranial Rotation Distraction. Previously only carried out in the USA, it involves multiple procedures to improve a patient’s airway in the hope of enabling tracheostomy removal.
Over an 18-month-period Abi underwent four main operations, which included the main procedure in August this year, which took six hours combining two procedures.
Mr McMillan said:
“Rhodri and I met Richard Hopper, the surgeon who first pioneered this type of surgery, after he described the procedure at a Conference. We discussed how it essentially combined two other procedures that we had good experience of. We knew it would be a ‘game changer’ for children with TCS.
“Combining the two operations does make it more complicated but we recognised that it was something we could offer to patients here.
“I shared Abi’s scans and case history with Dr Hopper at Seattle Children’s Hospital. He felt that she would be a good patient. His help in planning the case was invaluable. We also involved our two colleagues (Mr Martin Evans and Mr Steve Dover) from Craniofacial Surgery, who completed our surgical team and were instrumental in making sure her case was a success.”
“Thankfully Abi was a perfect candidate and her family were tremendously supportive. We’ve been delighted with the results and it’s completely changed her quality of life with her ‘trachy’ now removed after eight years.”
Abi underwent two small operations to prepare her for the main procedure, which took place in August. The major operation involved detaching Abi’s face from her skull and performing a controlled break in her lower jaw. Following this, Abi wore three distractors (two on her lower jaw and one on her skull) for around two months.
During this time Abi’s jaws were wired shut and her parents turned screws that gradually lengthened and rotated her jaws. The result of this enabled Abi to grow new bone and improve her airway space, which ultimately meant Abi no longer needed a Trachy to breathe safely.
This festive period will be will be the first in her life when Abi will be able to breathe on her own and enjoy a more independent life like many other children of her age.
Mum Amanda, who has fundraised for the children’s Hospital Charity for a number of years by taking part in the Wolf Run, half marathons and abseiling events, said:
“I cannot thank Kevin, Rhodri and everyone at the Children’s Hospital who has been part of our little girl’s journey, including Ms McDermott who carried her first procedure aged just three months.
“They saved her life and have now given a new lease of life.
“This successful procedure has completely changed things in a way we could not have imagined. Abi’s speech is much clearer; in fact she’s very loud. It truly is amazing to see our daughter growing just like lots of other eight-year-old girls.
“She can now do all the things she has missed out on like swimming at school instead of watching and she can enjoy sleepovers with her friends. We’re looking forward to making so many life-long memories and hoping to book a trip to Florida so Abi can fulfil her dream of swimming with dolphins.”
“Christmas will certainly have a new meaning in the Tomkinson house and we genuinely believe miracles really do happen. This year we’ve been given the best Christmas present ever. Santa really is real, just in the form of Birmingham Children’s Hospital.
The expert hospital will continue to see Abi for routine check-ups in the future but there’s no need for any planned surgeries in the years to come.