Oh , The boy who's growing on the inside only

Fraught parents of a 17-month-old toddler with a mysterious genetic condition which means he still looks like a newborn baby are appealing for help before his organs outgrow his body.

Amanda and Ian Warman, from Slough, welcomed son Ethan into the world in May last year.

But the youngster is plagued by debilitating health conditions, including growth retardation, abnormally small eyeballs which restrict his sight and an underactive thyroid gland, which genetic doctors believe are all linked to an unknown syndrome.

The couple now face up to a five year wait to find out what's wrong with their little boy, unless they can raise enough money to seek help from specialists in different countries who may be able to diagnose him and establish a more effective treatment plan. 

Having been born weighing 3.5lbs and 28cm tall, he now weighs just 13lbs and is 71cm tall. 

They also fear his organs may outgrow his body, which is something they've been told is a possibility by medics. 

'Both myself and Amanda have had moments of deep, dark depression, but work together to keep ourselves upbeat so that we can survive,' Ian told FEMAIL. 'It's us against the world.'

Amanda, 27, a production operative, met Ian, 32, a recruitment manager, at a work awards gala and a few months after they moved in together, Amanda fell pregnant.

'Although he wasn't planned, Ethan was welcomed happily,' Ian said. 'As we all wanted to share the same name we decided it was time to get married on March 25 this year.' 

At their 12-week scan, the couple were told there was a possibility Ethan was growing too slowly, but told it may be nothing to worry about.

At 20 weeks doctors warned there may be an issue with his heart, and he was referred to the John Radcliffe Hospital in Oxford, where they confirmed he had a right-sided aortic arch - a rare anatomical variant in which the aortic arch is on the right side rather than the left.

'At this point they did tests for syndromes, as certain syndromes can cause such defects, and the results came back as very unlikely,' Ian explained.

'From this date we had further scans at both Oxford and Slough hospital to track his progress.

'On the 34th week we went to Slough for a scan and they called in a doctor to take a look. They then asked me to go home for the pregnancy bag as Amanda was staying in hospital as her blood pressure was at the wrong level and Ethan's had not shown enough signs of growth.

'They were now very concerned and they'd seen the placenta had calcification and was stopping food being passed to Ethan.'

On May 31 last year, Amanda was booked for an emergency C-section after tests showed Ethan's heart rate was slowing and he still wasn't growing.

'The birth was horrific,' Ian recalled. 'Ethan came into the world at 12.04pm and was taken to a small table at the side of the operating room, and they had to bring him to life as he wasn't breathing.

'This was a tough few minutes as you always see in the films they cry immediately. Once he came around they allowed me to cut the umbilical cord, but said they had to take him to the neonatal unit and we could see him a little later.'

While Ethan spent time in what Ian called 'the fish tank' in neonatal care, their families came to visit, but no one could hold him as he was connected to feeding tubes. 

'Amanda and I weren't allowed to sleep with our son, so this was the most depressing thing in the world,' Ian said.

'A lot of families come and go, and of course you are happy for them when they get to take their babies home, but secretly it depresses you as you want to take your own home too.' 

Ethan struggled to take to breast milk as he kept vomiting, so the nurses put him on formula, though it took Amanda a long time to find a bottle teat he'd latch onto. 

'It was very hard to get Ethan to take in as much milk as he needed for nutrition as he just didnt want to drink it, so we kept persevering and eventually we could remove the tube from his nose and rely on bottle,' Ian recalled.

'The whole experience was horrible but made a lot better by the help and support we got from the midwives.'

From birth Ethan struggled to open his eyes and remained under the UK average growth for his age.

'They tried several things like vitamin drops, and more or less milk, and realised he had an over-active thyroid so prescribed him medicine, but this came to no avail, so they called for the geneticist which is where our relationship with them started,' Ian explained.

As well as his growth retardation and heart condition, Ethan has since been diagnosed with microphalmia, where one or both eyeballs are abnormally small, septic optic dysplasia, a disorder of early brain development, bilateral sensory hearing impairment, hypothyroidism (an underactive thyroid gland), and his testicles are too high.

Genetic doctors believe the likely cause is a syndrome, however they are yet to find any issues with his genetic code, and suspect it may be unknown to science.

Ian explained: 'They said the technology they currently have isn't able to spot anything so far, but they may be buying new machines in the coming years which could help us.

'We have been advised that we may be waiting for an answer for up to five years before they can find the error in his coding.

'As with all premature babies, Ethan is slightly behind with progress of development - but in his case it's worse.

'Ethan is yet to be able to sit up or crawl without support and finds it very difficult to hold his head up for long periods of time, even if we hold his body to support him.

'Ethan can see lights and loves his sensory toys, however he has to pull his eye lids down to see them as his eyes remain squinting most of the time.

'His small eyes have meant the doctors are unclear if he can see the same as all humans or if he can only see the difference between light and dark.'

Doctors are monitoring Ethan's growth and his eating of solid foods, due to the right aortic arch as his oesophagus and wind pipe may become restricted if the heart grips it tightly or grows larger.  

While doctors have insisted Ethan isn't in pain, Ian said he 'loves a good cry' and is difficult to soothe.

He added that it's very 'upsetting' dealing with the unknown, as they struggle to have faith in his treatment plan when doctors don't full understand his symptoms.

'For his testicles we have been told that they want to wait for the eye operations to be done because they don't wish to put him to sleep regularly,' Ian explained.

'But none of the eye "specialists" have agreed to operate because anaesthesia may be dangerous for his condition.

'Four hospitals keep referring us from one to another because they can't help.

'All we want for our boy is to live a healthy life and be happy, but nobody knows how to help him. 

'We love our son and to be honest, when he giggles and blows raspberries I often feel he's the happiest of all of us.' 

With Ethan needing round the clock care, Amanda has had to cut back her working hours and has taken up a weekend position to help with bills.

Living in a high rent area, the couple struggle for money - so Ian's boss Agata Palicka set up a GoFundMe page to help raise enough cash for them to seek second and third opinions on Ethan's condition. 

'We don't wish for handouts from people and are both overwhelmed with the support we have received and are forever grateful to each and every person that has donated,' Ian said.

'Especially Agata who has supported us from day one and lets me have time off for appointments, and insisted on started this page.

'We have our first consultation with the consultant pediatrician at Harley Street Pediatric Group next week. This man trained in Boston USA at the children's medical centre and has a large list of medical experience. 

'Hopefully he can start the process for a second opinion and get us refereed to doctors that can help our boy in any country. 

'They have told us that because each condition needs its own specialists, we will need a pediatrician to control the process so he can put them all together. This is the first time I have felt like we are making progress.'

stella Posted on October 31, 2019 10:38

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