Alia’s Story – Achalasia

Alia has a condition called achalasia. This problem with her oesophagus can cause her to vomit and struggle to keep food down. Alia's parents, Agnieszka and Cassius tell her story:

Alia with her mum, Agnieszka and dad Cassius

When did you first notice Alia’s symptoms?

Alia’s symptoms began when she was around 7 months old when we introduced her to solid foods. She would vomit and couldn’t keep solid foods down. We knew this was unusual compared to our friends’ babies, but thought we may have done this too fast, so we focussed on purees completely.

Alia’s regurgitating didn’t stop and she’d even regurgitate purees. I began a conversation with our doctor, who thought it was a bad case of reflux.

We followed advice for reflux, elevating her in her cot. We did everything recommended and nothing was improving. Alia couldn’t even keep milk down at this point.

It was so hard watching as her parents. She was always so hungry and crying, but nothing we were doing seemed to be helping. As parents, all you want to do is be able to fix the problem, but we were helpless.

After one particularly tough night, we took Alia to A&E and they identified nothing. We were consulting a dietitian too and we were experimenting with her formulas but again, with no luck. We couldn’t find a trigger.

What were your next steps?

We’re now 7 months on from Alia’s first symptoms, so we went to our doctor and asked for a referral to a paediatrician. We had a consultation, during which, the paediatrician was very clearly worried about Alia. He said she looked ‘gaunt’ and seemed tired. He was right. Alia was underweight, she had no energy. Our childminder also grew concerned as she would take frequent breaks, she didn’t even have any energy to play. The paediatrician decided it was best to immediately admit Alia into hospital to run tests and look for the cause of her regurgitation.

Investigations were finally underway. Alia was on a feeding tube which was bringing her energy back up. We had read up about a barium swallow test, so we pushed the consultants to schedule one, as all other tests were not pointing to a diagnosis.

During the barium swallow test, Alia was immediately diagnosed with achalasia. During the test, of the liquid that she swallowed, very little reached her stomach, just a few drops. All food she ate would just sit in her oesophagus, until she brought it back up. Her oesophagus wasn’t working as it should, it wasn’t pushing the food down.

How did you feel once Alia had a diagnosis?

We remember walking back to the ward and googling achalasia. We’d never heard of it. We learned that it was rare and there was no cure, yet we felt more in control than we ever had felt before. At least we knew what we were dealing with.

We’d watched our daughter lose weight and energy in front of our eyes with no explanation what-so-ever, so to have an explanation was a relief in itself.

What did the hospital do next?

Alia had treatment called a balloon dilation, where a balloon was placed in her oesophagus and gently dilated, widening the muscle at the top of the stomach and very gently breaking the it. This was repeated three times over the months.

After her first dilation, Alia was eating much better. Food was actually reaching our daughter’s stomach. Alia finally had the energy to play now she had the nutrition she needed.

How does achalasia affect Alia’s life now?

Alia’s treatment has actually been incredibly successful. This ‘spontaneous improvement’ hadn’t been seen before by her consultant. Alia is 4 years old now. She still regurgitates and has difficult weeks, but we’re learning together what works for her, which at the moment is ‘wetter’ foods. Some foods like pasta are still problematic, but she has grown to be much more instinctive about what works for her.

Our current difficulty is that Alia loves food so much that she forgets to chew properly sometimes! We think it might be due to the fact that she missed out on the ‘love of food’ for so long.

Why is Guts UK’s work so important to your family?

For us, we had a traumatic 7 months where our little girl was becoming poorlier and poorlier in front of our eyes and we couldn’t do anything about it. If we’d found Guts UK, we could have contacted them to tell them about Alia’s symptoms and they may have suggested which tests to request.

We don’t want other families to experience the same trauma we did. We must intervene before getting to a point where a baby can’t thrive or develop.

The team at Guts UK also connected us up with another family who have a daughter who is a very similar age to Alia. This is invaluable, talking with a family who understands your worries and challenges, and for our little girls to learn they are not alone.

We have recently learned that achalasia is much more common in children than it was believed at the time Alia was diagnosed. It is important that parents know about this condition, so they can eliminate it or diagnose it early.

We hope that Guts UK’s achalasia research will progress and lead to further clinical trials.

“We’re getting to grips with guts!”

Guts UK is the charity for the digestive system. Our guts have been underfunded, understaffed and undervalued for decades. With new knowledge, we will end the pain and suffering for the millions affected by digestive diseases. Guts UK’s research leads to earlier diagnoses, kinder treatments and ultimately, a cure.

Help the UK get to grips with guts by donating today.