Olivia

Olivia’s story

On 10 January Olivia decided to make an early entrance to the world 9 weeks early. She was admitted into the neonatal unit at the royal derby.

She had breathing complications and was put on a c pap to help her breathe. While in the unit she suffered from sepsis and other infections. Eventually on 22 February we were allowed to take her home. Everything was going so well until Olivia turned 4 months old, she stopped gaining weight and wasn’t doing normal baby things I.e trying to sit up, or rolling over etc.

Her feeding became a struggle as she wasn’t really taking to the bottle anymore. The neonatal consultant arranged to see Olivia, and her milk was changed as they thought she had an allergy to the preterm milk. She was given an allergy free milk. Olivia would not take this milk at all and was constantly being sick and was losing weight. Another appointment was arranged with neonatal consultant and Olivia was given a different milk, which she did start taking every 4 hours. Her weight did start going up but very slowly. She then became a concern as her age and weight were not matching up.

Olivia then started making rowing motions with her arms and legs, so the consultant arranged for Olivia to have an eeg as it was suspected that she was having absence seizures. These tests came back all clear. By this point Olivia was constantly unsettled all of the time and was hardly sleeping. Following numerous appointments with the consultant nothing had been put into place. By September, our little girl was so tiny and pretty much not doing anything. She wasn’t interested in toys, and still wasn’t sitting up or rolling over. The consultant finally decided she wanted Olivia to go to learning development classes but we have to wait for an appointment (there was an 8 week waiting list).

Olivia was admitted to the royal derby hospital on 11 October with suspected infantile spasms, medication was ordered for Olivia to take. Then on 13 October Olivia started having a spasm which turned into a massive seizure after 3 hours Olivia wasn’t coming out of this. The consultant decided the only way to keep Olivia safe was to intubate her (putting her into an induced coma) She was then transferred to the Queens Medical Centre, where she was admitted into the paediatric intensive care unit. An ’NG’ feeding tube was fitted so that Olivia could still have food to keep her strength up.

On 16 October they decided to try and bring Olivia around to see how she reacted. She did continue to have seizures where different medication was given. Loads of testing was carried out but everything kept coming back clear. Eventually they decided to carry out some genetic testing where they took ours, and Olivias blood. Finally after a little while the right medication was given to stop the infantile spasms and seizures.

On the 30 October we were told Olivia could come home and the hospital would be in touch with the genetic testing results. Olivia was dosed up on so much medication she slept most of the time. The neurologist made a plan for her steroids and other medication to be lowered and stopped which apparently she didn’t really need.

On 4 November we received a call from the Queens Medical Centre regarding Olivia’s genetic testing. She had a disorder called UBA5. We were pretty much told to research this disorder ourselves, as they didn’t really know much about it,so we did. We were completely devastated after reading symptoms. It is a rare life threatening, and progressive neurological disorder.

A week after the diagnosis no one had been in touch with us so I emailed the neurology team annoyed, and angry. One - for receiving this news over the telephone, and two - no one had followed up with us about this. We finally received a telephone call for Olivia to attend an appointment on 19 December and a genetic appointment on 18 December. Olivia was assigned an epilepsy nurse at the Royal derby hospital. Through out November Olivia started again with infantile spasms which we recorded and sent these through for the epilepsy team to have a look at we were told this was “normal baby movements”. These movements got a lot more frequent. I wasn’t happy with the information we were given, and requested for testing to be carried out, as I knew these movements were not “normal”. An EEG was carried out, we were told epilepsy activity was showing but nothing else.

The movements got worse as we went through December then on Christmas Eve Olivia became unsettled and started being sick. We monitored this for a couple of days but by 29th December, Olivia was not sleeping at all, and was constantly crying so we took her to A&E at the Royal Derby, to be told this was reflux, and we were sent home. By 31 December Olivia was literally screaming and hadn’t slept at all, again we decided at 5am we were taking her back to A&E. Olivia’s heart rate went over 200, she then started seizing and was moved into resus. Eventually after an hour and a half Olivia finally reacted to emergency medication, and came around but was very sleepy due to all the medication. She was then admitted onto the dolphin ward and slept but then eventually she awake screaming and crying with the same movements. The consultant finally came to see us and Olivia, and told us these movements were dystonia movements which are part of the disorder. Olivia was set up on a very small feed and was given more medication, which didn’t really have much effect. Olivia then started choking, and the panic button was pressed. She was moved onto the high dependency unit (Olivia is still doing the same movements. No medication helping at the minute). Friday 3rd January Olivia suffered another seizure and was given medication to bring her out the seizure, which eventually she did and fell asleep. Another EEG was carried out, and the results have come back as muscle movements. As it is a rare genetic disorder, the consultant is unsure of what medication she needs, so she is now being tried on different medication - which up to now, nothing is working.

Eventually Olivia was transferred back to the Queens Medical Centre, on 6th January as the royal could no longer treat her. She was once again admitted into paediatric intensive care unit. Olivia spent her first birthday in hospital. Olivia has now been in hospital for 4 months.

On Friday 25 April me and pagie were given the most devastating news that Olivia’s brain is shrinking and there isn’t anything more they can do now. It’s a case of keeping her comfortable and pain free.

We would like to arrange a few days out with Olivia and enjoy some family time and hopefully Olivia can come home and spend her last few months with us ❤️

My aim is to now start a foundation to raise as much money, and awareness as possible, so research can be done and for medicine to be created to treat UBA5. I am also hoping one day there will be an opportunity for the gene to be replaced so others, can try and live a more comfortable life. The nurses and staff at the Queens Medical Centre, and E40 ward have been amazing. So we would like to donate some money to the children on E40 also.

Being a parent is one of the hardest things to cope with but also having a child with additional needs is even harder. I have now given up work to care for Olivia full time, which I wouldn’t have any other way, as she is our world. This has now added pressure onto us, as her dad has recently gone back to work.

We really believe more research is needed for this genetic disorder as it is not known in the hospital, and it’s very upsetting having to keep explaining this to the consultant teams who are supporting us.

UBA5 DISORDER also known as developmental and epileptic encephalopathy 44 (DEE44), is a rare, life-threatening, and progressive neurological disease caused by mutations in the UBA5 gene: 

* Symptoms: Muscle floppiness, stiffness, seizures, movement disorder, brain abnormalities, intellectual disability, poor head growth, and failure to thrive 


* Onset: Usually within weeks or months after birth 


* Progression: Chronic seizures and early death, typically within the first few years of life 


* Treatment: There is currently no known cure

Individuals with the most severe forms of the disease die soon after birth or during infancy;4,8,12 however, individuals with milder forms have been reported to survive past 20 years of age.