A SECOND local mum has spoken up to highlight a life threatening and life-changing condition which has just completed an awareness week.

Last week we featured the story of Archie Hallett to share details of TOFS (Tracheo-Oesophageal Fistula Support), a charity dedicated to improving the lives of all who are born with the TOF condition.

That has inspired Sam Jayne to tell the story of her daughter Poppy in the wake of Saturday's (28 February) Rare Disease Day. She also wishes to help raise awareness of two rare conditions, TOF/OA and Chiari Malformation — and the reality families coping with the conditions suffered by Poppy and Archie face.

Sam says: "Poppy was born in January 2018 at Basildon Hospital. Shortly after birth, she had to be resuscitated. When her dad tried to give her a first feed, the milk kept coming back up through her nose, mouth and even ears. At first, staff thought it might be the milk, but it quickly became clear something wasn't right.

Poppy's first months of life were incredibly difficult.

"Within hours, Poppy was taken to NICU, where we were told she couldn't swallow. That's when we first heard of TOF/OA — a rare condition affecting around 1 in every 3,000 to 4,500 births, where the oesophagus doesn't form properly.

"At just a few hours old, Poppy was rushed to the Royal London Hospital for emergency surgery. During the operation, we were told she had a "long gap" TOF/OA, which is a more complex form.

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"After surgery, Poppy became very unwell. She developed sepsis, needed two blood transfusions, and was on life support for four weeks. Thankfully, she turned a corner and we were eventually able to bring her home to her two sisters.

"But that wasn't the end of it. Within a week of waking up, she needed further procedures to stretch her oesophagus.

"As a toddler, Poppy suffered with what we call "stickies," where food gets stuck in her oesophagus, similar to choking. We've had to give back blows and chest thrusts to help dislodge food, and there have even been times where her older sisters have had to help.

"Although TOF/OA can be repaired, it is never cured.  

"Poppy lives with severe reflux and oesophageal dysmotility, and she also suffers with recurring chest infections due to aspiration and swallowing difficulties. Mealtimes are still something we have to carefully manage every single day, making sure she is supervised and has a drink to help food go down.

"Then in late 2020, during an MRI, we were unexpectedly told Poppy also has Chiari Malformation—something we had never heard of before. We were referred to Great Ormond Street Hospital, where she is now monitored.

"Chiari Malformation is thought to affect around 1 in 1,000 people, although many go undiagnosed. A lot of people—including professionals—assume it's just about headaches, but it can also affect balance, speech, cause brain fog, fatigue, pain, and even swallowing issues.

"Poppy is currently classed as asymptomatic because she doesn't suffer with the headaches, but it is still something we have to keep an eye on.

Poppy's spirit has been indefatigable.

"Despite everything, Poppy is such a happy little girl. She does struggle with anxiety, especially around hospitals and doctors, but she keeps going every single day. She really is our miracle.

"We're sharing her story to raise awareness because so many people have never heard of these conditions until it affects them personally. Rare diseases may be individually uncommon, but together they affect so many families.

"We just want more understanding, more awareness, and for other families to know they're not alone."