Australia

by Olivia

I can’t remember a time in my childhood where my swallowing didn’t bother me. Aspiration was just there in the background. But as far as I understood, my aspiration was not abnormal. And as far as I knew, all of my birth defects were fixed at birth. 

I was born in 2005 in Adelaide, South Australia. At 37 weeks gestation of my mum’s pregnancy, she was diagnosed with polyhydramnios (too much amniotic fluid). My parents were not given any information to suggest this was caused by problems with my development. I was born via emergency cesarean delivery at 38 weeks. 

After my arrival, the doctors attempted to pass a feeding tube down into my stomach. This tube kept rebounding up from my oesophagus. Further investigations revealed that I had oesophageal atresia (OA) and tracheoesophageal fistula (TOF).  OA meant that my oesophagus was not connected to my stomach and TOF meant that my oesophagus was abnormally connected to my trachea. 

At six hours old, I went into surgery. The repair required a thoracotomy, an open chest surgery through my ribs. After the repair, I was put on a ventilator. Lung drains had to be placed due to an anastomotic leak. I spent time recovering in the PICU. 

When tube feedings were started, I aspirated vomit and had a code blue. I was diagnosed with reflux and at 1 month old, had a Nissen fundoplication surgery.  After my reflux was addressed, it was evident that I was aspirating for another reason. Shortly after, my type 1 laryngeal cleft was identified through a rigid scope. 

Initially doctors wanted to see if the cleft would self-resolve, but after repeated aspiration pneumonia, my cleft was repaired endoscopically at 4 months old. I was G-tube fed until I was around 3 years old.

From the age of around 4 to my early teenage years, my conditions played a small part in my life. I was able to participate in activities I enjoyed and attend mainstream school. I played soccer for five years as a striker. I had to stop in 2023 due to my health, but I still love watching and supporting the Matildas, the Australian women’s soccer team. 

During these years there were subtle things that were not quite right. I would always choke on water when swimming. One rather strange symptom is that I always struggled lying on my stomach, especially on physiotherapy tables. I felt as though I was drowning in my own saliva and would cough and choke. I assumed that this was all normal although in hindsight, it was aspiration.

Gradually, I started choking when drinking water. This became noticeable at around 15 years. I would aspirate a few times per week and then it gradually became more frequent. Along with this, my voice would get gurgly and sound like I was speaking underwater. These episodes increased and I eventually mentioned it to one of my doctors when I was 16. 

I was told that I was probably not paying enough attention when drinking water. When I asked if my laryngeal cleft could have possibly reopened, I was told that it was impossible. This unfortunately delayed my diagnosis and left me second-guessing myself. 

Advocating for myself has become a core part of my medical journey. I have learned to advocate for myself, speak up when things are not right and seek out doctors who take my concerns seriously. I am building up confidence to speak up when things are not right or I do not feel listened to. 

If I could give any advice, I would say to trust your instincts. Finding your voice to advocate for yourself or your child can be very challenging, especially if you do not feel listened to. However, it is so important and can be empowering, too.

Eventually I was aspirating every day and I spoke to another doctor who referred me back to the ENT who had done my original cleft repair. During this time, my aspiration continued to worsen, and I started on thickeners. This continued to progress up to level 4, the highest thickness level.

In January of 2022 at 16 years old, I was no longer able to tolerate level 4 thickener without aspirating every time. After a month of reduced hydration and a week of aspirating all thickener intake, I was advised to attend the emergency department. 

Because of the dehydration, I felt very dry and my heart rate was high, constantly above 100 beats per minute. After a lot of difficulty explaining my situation to the emergency doctor, who was unfamiliar with laryngeal clefts, I was eventually admitted for IV fluids. This is when I saw a speech pathologist who was able to do a comprehensive assessment. It was deemed unsafe for me to have any oral fluids, even heavily thickened. 

Based on my symptoms, my ENT suspected my laryngeal cleft may have reopened. That week, a procedure to inject Restalyne filler into my suspected cleft was booked to see if this would temporarily address my aspiration. During this procedure, it was identified that I had a recurrent type 2 laryngeal cleft, thought to have opened back up as I grew throughout childhood. The injection was a success and I was able to drink thin fluids without aspiration. After two months, it started to wear off quickly and I started regularly aspirating again.

Right after this operation, I started fainting repeatedly. After multiple hospital visits, I was diagnosed with postural orthostatic tachycardia syndrome (POTS). This is a lifelong condition where my body cannot adequately control my blood pressure and heart rate when standing up. They believe I developed this due to the severe dehydration, as well as having had many surgeries. I now see a cardiologist who specializes in POTS to best manage my POTS with treatments and medications.

After the first Restalyne injection wore off, I had another which was again successful.My medical team and I decided to place an NG feeding tube when I was 17 years old, which I received all of my fluids through. This made my daily life much simpler, as I didn’t need to worry about aspirating or not getting enough hydration. 

The month after my 18th birthday, I had an endoscopic repair of my laryngeal cleft. At this point in time, I am very grateful that the repair is still intact and functioning well! After the repair, my aspiration improved a lot. At first, I convinced myself that any residual aspiration was “the normal amount.” However, I was still regularly aspirating. 

These aspirations felt different than the aspirations I was having before my repair. My cleft aspiration always felt high up in my throat, and my throat would feel wet before I started coughing. I was also often able to regurgitate most of what I had aspirated. This new type of aspiration was different. With no warning, I experienced panic and gasping that felt deeper into my chest. I didn’t have the same wet voice anymore but felt like I was suffocating. 

At this point, we knew it was time for another barium swallow. In childhood, my barium swallows were all conducted lying down at the children’s hospital. Gravity had prevented the barium from going through my TOF on these scans. This new barium swallow was performed in an adult hospital, standing up. This one showed no aspiration from my cleft, but a trail of barium going through my oesophagus and into my trachea at the level of my collar bones. 

It was a very unexpected finding, but after a rigid scope in October 2023, a tracheoesophageal fistula was identified. There is an abnormal tunnel between my trachea and oesophagus through which I am aspirating. Apparently this one has been there from birth, and it is completely separate from my original TOF repair site and my cleft repair. 

As I have grown over the past 19 years, the TOF has also grown, and unfortunately it is now too large to repair endoscopically. I will have an open repair (through my neck and thyroid) at the end of August 2024 in Adelaide. To prepare for this, I got a PEGJ feeding tube in November 2023.

Related to my airway and digestive defects, I also have tracheomalacia, restrictive lung deficit and gastroparesis. Gastroparesis means that my stomach is partially paralysed and holds onto food much longer than normal. My symptoms of reflux, nausea, low appetite and pain impact my day-to-day life. 

My PEGJ surgical feeding tube allows access to feed into each the stomach and small intestine. This allows me to bypass my problematic stomach to receive fluids and food. These conditions are lifelong, but I have hope that in the future, treatment options will improve and new treatments will become available. I also have a PICC line at the moment. The plan is to hopefully remove the PICC line after my upcoming TOF repair.

I am currently studying nursing at university with a goal of becoming a nurse practitioner. I understand what a profound impact healthcare staff can have on a patient's experiences and wellbeing. I hope to use these experiences to make a positive impact in this area. 

I feel that my health conditions give me a greater perspective on life. I am reminded to value things that may seem small and not to stress over inconsequential things. I am still growing as a person and learning to accept the journey that I am on. However, I am grateful for the life I have right now, even if it challenges me. 

The support I have had throughout my life from family, incredible friends and my medical team have been and continue to be remarkable. My thoracic surgeon is the reason I am alive today, and an incredible practitioner. My ENT, PEG nurse, paediatric respiratory specialist and adult gastroenterologist are full of compassion, empathy and expertise.  I also can’t forget the infinite support of my parents, who have been and continue to be by my side through everything. And Sebastian, my caring and very tolerant younger brother.