Grace’s Story – Achalasia

This is 3-year-old Grace's story as told by her mum and dad, Vanessa & Steve.

When did you first know Grace had Achalasia?

Grace was a fabulous baby, she was a good sleeper, breast fed normally, she was small but following her centile development paths and a happy baby. At 6 months we started to wean with finger foods. She regurgitated a bit and seemed to have constipation. Being worried new parents we monitored and finally after 5 days went to the GP. At this general check up we were told she had a sizeable hole in her heart, within 4 weeks Grace was at Great Ormond Street Hospital having open heart surgery, it was all a bit of a blur, very stressful. However all went well, surgery went smoothly, recovery was relatively quick, she coped like a tiny superhero.

As things settled her symptoms of regurgitation started to be more obvious and frequent. We talked to our cardio consultant who said there was a link between cardio babies and reflux and we should just let things settle a bit more.

After a few months with regurgitation at every meal, often multiple times, we went back to our GP. We were lucky to have private insurance so we were referred to a paediatric gastroenterologist. Grace had a Barium swallow and the consultant talked to us for the first time about Achalasia. Unfortunately we didn’t really bond with this consultant so found a new one by reading through profiles, we finally found a brilliant consultant at GOSH. He was wonderful, made us feel like he cared and was willing to answer the multitudes of questions I had which helped me process the situation, we repeated the Barium swallow, followed by manometry, endoscopy and a biopsy. Grace was diagnosed with Achalasia, rarely showing signs of type I, II and III.

How does this Achalasia affect Grace’s day-to-day?

In the early days she regurgitated food multiple times every time she ate or drank. This never bothered her, we treated it as normal, ensured no one around her made a fuss of it. We engaged everyone; extended family, friends and nursery, in just getting on with it. She would go back to eating straight after and generally she was thriving, gaining weight rapidly following the heart surgery.

We never force her to eat, we also allowed her to roam around and eat at her pace.

Her dad and I got pretty good at catching any regurgitation and we never let it deter us from going anywhere. OK there were multiple accidents and we kept changes of clothes but nothing unusual for a child that age.

Over time her symptoms have definitely improved, she now hardly ever regurgitates. We have little bowls that we travel with to discreetly collect into and she has learnt to know when it will happen and go to a bathroom. She is very good at regulating and knowing when her swallowing function is working better. She naturally steers clear of skins on fruit, bread, pasta while sausage is a favourite!

During the last 3 years I have read what I can about it, there was a very small study done on the impact of accupuncture on Achalasiain adults, inconclusive due to a sample size of 12 but after discussing with my consultant we both felt there was nothing to loose. We found an excellent therapist, she taught us acupressure and used very small needles stuck on plasters. Grace was not a big fan of all the prodding and messing around but we kept at it. Hard to say if it had any effect but her symptoms are so significantly reduced, up to 90% improvement, that we keep going with daily massage.

Were you aware of Achalasia before Grace’s diagnosis?

I had never heard about Achalasia before. It was a all a bit of a shock when we were told. I found it much more difficult to get my head around a condition that is progressive and incurable than I did the heart surgery which affects up to 1% of the population and where the surgeon completes open heart surgery twice a day. With it being so rare, especially in children, it seemed scarier, less clarity in prognosis.

On our last visit to her doctor he felt her latest Barium swallow didn’t show significant improvement despite dramatic improvement in symptoms. however due to her thriving and no worsening he has advised monitoring, potentially no invasive treatment for a couple of years.

He also shared this was completely new territory for him, he’d not treated a child that showed significant improvement in symptom without surgery. Basically there is relatively little known about the condition, which can be frustrating as a parent, you just want answers and to be able to help.

How do you feel you’ve been supported as a family?

Overall we really have a lot to be thankful for. I am part of a Facebook group and it is clear some people have bad experiences. Apart from a consultant that didn’t want to spend time to explain things technically to me, everyone else has been responsive, caring and supportive. We have had to chase things through a little, keep an eye on dates and follow up appointments but nothing dramatic.

What attitudes did you experience from people around you regarding Grace’s condition?

People have been great. Grace attends nursery 5 days a week, they have been great at treating her consistently suggesting things to ensure Grace isn’t made to feel different. They have worked with us on managing the condition, bibs, sick pots etc and always letting her go back and eat. They also fill out a log every day so I can track frequency.

Our friends and family have been wonderful just taking it all in their stride. I am uncomfortable about the sympathetic looks from other mums at social gatherings so we work hard on making Grace a tough cookie, resilient to everything from not being afraid of the dark to never saying sorry if shes sick, it’s just who she is!

How have things been recently, what are your hopes for the future and why have you decided to support Guts UK?

So things are pretty good at the moment, Grace is learning to manage the condition better. She still gets bad times, especially when fighting infection, where she’ll have spasms and regurgitate frequently, however overall it’s much reduced.

We are trying not to be lulled into a false sense of security as we know it is likely that it will be progressive, so we continue with the acupressure, educating Grace about the condition and talking to our consultants. We hope having it from such a young age helps her as she has no knowledge of a time without Achalasia. We know one day surgery may still be the best option and we will cross that hurdle when we get there.

We have been supporting GOSH charity, a wonderful place with real superheroes working inside. We stumbled across Guts UK and we’re so pleased to see the stem cell research that is going on into Achalasia. We will be following with interest and pray this might be a cure in the future. In the meantime we will do whatever we can to support.

WHAT YOU CAN DO:

If you are interested in supporting our work in upper GI conditions, which is hugely important, please consider making a donation. Discover the stem cell research we’re funding into Achalasia here.

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