Please help us get final diagnosis for Eti

Hi. My name is Hana. I have the absolute privilege of being Etienne’s mummy.

Eti loves planes, jets, RAF Red Arrows, music, instruments and being with the family.

He has an amazing big brother Arte and a little sister called Aya.

We are looking to raise the funds for specialist blood tests to help us reach a final diagnosis for our boy.

Please allow me to share our story so far…

Eti is our miracle. After a difficult journey with failed IVF, we fell pregnant naturally with Eti, which was a huge and wonderful surprise.

Pregnancy was painful as I had severe SPD and polyhydramnious. He was born by C section 3w early.

3 days later we ended up back in hospital as he couldn’t feed and became dehydrated with jaundice.

His strength and ability to take anything in his stride already shone through. Our chilled out, strong baby boy.

We always felt there was something.

Couldn’t quite put our fingers on it. He still struggled to feed and was a really quiet baby. He spoke with his eyes. He could stop people in their tracks with a look.

We had hospital referrals made, speech and language therapists but still just got told ‘he ll get there’. ‘Some babies just struggle to feed’! He struggled to gain weight, struggled with Reflux. But we struggled on quietly.

By one year the dribble came. We thought it was teeth. He seemed clumsy and was forever falling over, stitches in the head. He split his tongue. Hello again to our local ED. Still struggling to feed. Coughing. Choking. Lots of gagging. But again ‘he ll get there’ we were told.

Then COVID came. As he got bigger in his body, nights became more problematic with sleeping, he d cough and cough. Dribble was everywhere. He had Croup ALL the time. But during lock down it was so hard to get help. It was not urgent. So we went on. We noticed that he tire easily and he d get a droopy eye and facial drooping, and sometimes got slurred speech. One day we ended up in the ED again with croup and breathing difficulties. I couldn’t watch him suffer any more. I had to fight and get help. He sometimes coughed so much he was sick. He was fed up.

Once lockdown restrictions lifted I begged my GP for a referral. 3months later off we went to a tertiary centre to see ENT specialist.

Things started to move forward. We were re-referred to speech and language. He got diagnosed with low facial muscle tone. They noticed his abnormal drooling. Weak chew and swallow. He had airway investigations and got diagnosed with a narrow upper airway which then was operated on. No wonder he couldn’t sleep and had all these breathing difficulties!!

Due to all these findings and coupled with his ongoing Reflux, persistent drooling, coughing, his ENT consultant sent us to see a Neurologist. This is where things then got harder.

Test after test. At now 4years old he got bored with all the appointments. Sleep studies. Blood tests. Brain MRI. Cannulas. Medications. Consultations. But throughout he always stole the hearts of the nurses and Dr’s. Always smiling. Thumbs up. He just takes it all in his stride.

As it stands now. With everything he has been through so far, we have been told that symptoms could be a form of Bulbar Palsy or Congenital Myasthenia syndrome. But as it stands Eti does not fit the protocol to send off genetic bloods to confirm these suspicions with the NHS.

We have made the decision to send these bloods off privately through a Genetic specialist in London. He feels this will help to give us the answers we so desperately need to understand Eti, and how we can support him going forward.

Recently Eti has been having ‘vacant episodes’ and after one of them he lost the use of his Right leg for 4hours. He couldn’t walk. This was terrifying. He seems to be so much more tired these days. He still naps. He struggles to have the energy to eat at the end of some days. So we are very scared that this could be a progressive illness. This is why we are so desperate to get the blood tests done to find out.

Eti needs supervision to eat and drink at school incase he aspirates. He needs all his drinks thickened. He has a respiratory care plan in place to protect his chest from chest infections as he drools so much, coupled with his weak swallow fluid sometimes goes down the wrong way and into his chest. We do physiotherapy with him everyday and he is on regular medications. He prefers a softer diet.

But everyday, he is just such a brilliant, ray of sunshine!!

We are just desperate to know if this is going to get worse.

Thank you so much for taking the time to read our story. We so appreciate your thoughts and kindness.

Hana and family

Update: Thank you so much to all who have donated. We cannot thank you enough!! This is amazing!!

Blood test funded, now if Eti needs a muscle biopsy and/or EMG we can use any further funds donated toward these. I’m just so eternally grateful to everyone that helps. Thank you!! This really is life changing.