We are Hana and Brian – we are Etienne’s parents. Eti is 7, he has a big brother called Arte and a little sister called Aya.
Eti
Eti loves planes, trains, adores his siblings, loves our family dog Nellie and being out and about. He is also known to bash out a beat or two on the drums and is very musical.
Within 3 days of being born, Eti was re-admitted to hospital for dehydration and weight loss. Feeding was problematic and despite being told by doctors it was because of tongue-tie, Reflux and then ‘he’ll grow out of it,’ he never did.
In the beginning
At 3 months old, Eti developed bronchiolitis and we raised our concerns of his feeding difficulties, ongoing reflux, lack of tone, ptosis, facial drooping, not being ‘quite right’ and not really making many sounds.
By a year Eti was slow with his development, still quite quiet, and had started to excessively dribble. We also found ourselves having frequent trips to the doctors with Croup!
Between the ages of 1 to 3, croup/breathing difficulties were a monthly worry and we were increasingly concerned. The GP referred us to our local hospital where Ear, Nose and Throat (ENT) requested a sleep study showing Obstructive Sleep Apnea (OSA), they removed Eti’s tonsils, adenoids and performed an Microlaryngoscopy and Bronchoscopy (MLB) with no issues found.
After yet another night in A&E we begged the doctor for further help! Another course of steroids, X-rays taken, a referral made to ENT at a Tertiary Centre with a referral to Speech And Language Therapy (SALT)
SALT found low facial muscle tone, poor swallow, reflux, and chronic coughing. ENT found Laryngomalacia, floppy tongue and hypersalivation.
The breathing difficulties eased post-surgery to correct the Laryngomalacia, but we noticed Eti was still really dribbly. He needed thickened drinks, sleep was poor and disturbed, he started having ‘vacant episodes’ and he was noticeably more tired than his peers.
Next stop was Neurology. Although we were super grateful for the help, things became more hectic. We were now under a larger team of people trying to offer multiple hypotheses as to what could be the underlying cause of Eti’s differences. Doctors named possible medical conditions as a possible answer, but no solid answers ever came.
Searching for a diagnosis
We spent years searching for answers. Looking for a diagnosis to name his condition. To allow us to explain to people what he had, to explain to Eti so he could understand. To go out somewhere and say Eti has ‘…’
As a ‘Medically Professional’ family, finding a diagnosis was everything! Having a diagnosis meant we could give him the best care and understand him fully – to meet his every need. Having a diagnosis normally means a pathway is available for medical treatment and care.
Having a syndrome without a name
When Eti was 6, after numerous tests, and a real struggle to get genetic testing, we finally learnt that he is a SWAN. Eti has a Syndrome Without A Name!
This was so hard. Undiagnosed. Never in a million years did we think that there was such a thing as NO DIAGNOSIS! No answers, no pathways. His genetic change has not yet been researched enough – a Variant of Uncertain Significance.
We understand his genetic change is ‘a likely cause’ of Eti’s complexities, but it is not yet proven.
Eti understands that his amazing gene has made him special, who he is, and who we love and adore! Our little SWAN. Brilliant, brave, unique, and special.
To Eti, being a SWAN means being Brave. He asked me to tell you that his gene ‘makes him feel tired and wobbly’.
For us, the most challenging frustration of having a SWAN is not being heard, understood or recognised. Not being given the time to allow for full understanding of what you bring with your child, or recognition of that we have been through.
Finding the SWAN UK community
We found SWAN UK online from Eti’s report letter from his genetics team and immediately joined the community. We had no idea that there were a whole multitude of families who’ve had similar experiences to us.
Test after test, appointments by the truck load, too many hospital visits to count, multiple surgeries. We felt like we were no longer alone in our frustrations, experiences, thoughts, worries and anger. SWAN UK has shown us that there are other incredible children like Eti.
SWAN offers parental support, aids understanding and signposts to other families just like ours. It was like walking through a door that finally wasn’t daunting, but welcoming, familiar, supportive!
Hopefully one day, Eti’s syndrome will have a name, and a fabulous name at that!
If you would like to join the SWAN UK community please click here to complete a short registration form.
