30 Jun Amrik’s Superhero Story
Amrik is a SLC13A5 Superhero. Here are a few fun facts Amrik’s family shared with us!
- Name: Amrik
- Age: 9
- Homecountry: United Kingdom
- Amrik is the happiest boy, with the biggest smile and adorable laugh.
- Amrik loves to act! He enjoys pulling faces and play acting. Amrik also LOVES music. it’s a big part of his life.
- Amrik loves fire engines. He is well known at the local fire station and is super motivated to go there in his walker.
- Amrik loves the outdoors, particularly being on the beach or by the sea.
- Amrik’s favourite word is “no”!
Amrik’s Medical Journey
When Amrik was born he appeared to be healthy and well. However within a few hours he started to have what we now know was near on continuous seizure activity: his head would turn to one side, his eyes would roll upwards, he would lip smack and he would become what I then described as stiff and jerky (my knowledge and vocabulary didn’t include focal or tonic clonic seizures back in October 2012).
Amrik was seen twice by a doctor from the NICU of the hospital we were in and we were told by him and every other professional that what he was doing were just normal baby movements. In persisting for him to be examined further I was asked the question if this was my first child and I replied with an affirmative. I was then told I was just being an over anxious first time mum. Over the next 48 hours raising issues were met with the response that there was nothing of concern.
We went home and stayed at home for less than 24 hours. As I’d remained concerned about Amrik, a midwife came to visit him the morning after we were discharged when he was 3 days old. Within a minute of her stepping into the house she was dialling for an ambulance and within half an hour Amrik was being blue lighted to the local hospital. It was there it was confirmed that what we had been seeing were indeed seizures.
At the local hospital, the team thought they’d brought the seizures under control with the emergency medications. I wasn’t convinced, his oxygen levels were dropping below 80 and his heart rate was hitting 165, clinically he wasn’t showing the same signs (not surprising, I now know from the impact of the loading dose of lorazepam, phenobarbital and phenytoin) but if you looked closely there was still twitching at the mouth and on the toes and fingers. The hospital refused to transfer Amrik to a NICU. Hours of asking, pleading, crying and finally after 6 hours (where the boy’s SATs were highly indicative of something being seriously wrong) I had no choice but to threaten legal action and then arrangements were put in place to transfer him to a NICU, the same hospital where he had been born 3 days earlier. Arriving at the NICU at 10pm on that Sunday night was simultaneously reassuring and frightening for us as parents. Reassuring as we knew they had the facilities to assess and care for Amrik but frightening as it dawned on us how serious this was as he was in intensive care.
At the NICU Amrik immediately had an EEG attached which confirmed there were indeed ongoing seizures. Enough time had passed to repeat the loading doses of emergency medications. The seizures did not abate. Clinically he was not showing signs of seizures but the EEG showed that sub clinical seizure activity was ongoing. At 5am on Monday, his 4th day in the world, we were informed that Amrik would need to be intubated and ventilated in order to start the IV Midazolam. It was then we were spoken to and realised we were being counselled that he might not make it.
Eventually after numerous increases of the midazolam over 6 hours the seizures were brought under control and Amrik was also started on “maintenance” seizure medications. Amrik spent a month in NICU as he continued to have prolonged clusters and episodes of status lasting hours.
In that time, as well as being ventilated and intubated, he had CT scans/MRIs/2 lumbar punctures (the latter without anaesthetic) and what seemed like bloods being taken nearly everyday.
Amrik was discharged from NICU and only spent one night at home before being blue lighted back into our local hospital, and then transferred to the High Dependency Unit in the Neurology ward at Great Ormond Street Hospital (GOSH). There he continued to keep everyone on their toes with the unpredictability and the length of his episodes of status. A Consultant said of him (on a day when he’d been stable and consideration was being given as to whether the latest anti epileptic medications being trialed may be having some success) “I don’t trust you Amrik”. Suffice to say prolonged episodes of status arrived within hours. Unfortunately medications have never sufficiently controlled Amrik’s seizures.
In his first year of life he spent 4 and a half months in hospital which included the horrific trial of the ketogenic diet as an in patient at GOSH. The 3 weeks he was on it he had over 1400 seizures. During that period he lost some presentation and skills that he’s never regained.
Amrik’s seizures remain unpredictable and at times prolonged but thankfully nowhere near as frequent as in his first year of life. His seizures are predominantly tonic clonic, where he holds his breath and can start to change colour within 10-15 seconds. Although not as frequent his seizures require emergency medications the majority of the time. Also the majority of his seizures occur in his sleep so we need to co sleep with him and stay awake as much as humanly possible.
Amrik’s endured some horrendously long periods of status, including a number as long as 3 hours and equally horrendous interventions. When he was 3, a delay in being transported to hospital resulted in it being too difficult upon arrival to get a cannula into a vein for his emergency medications, so the doctors had to administer them through an intraosseous infusion. 4 medical practitioners holding a seizing 3 year old boy down while a 5th drilled into his shin bone.
Amrik has thankfully also experienced periods as long as 8 months at a time seizure free.
Despite all that Amrik goes through, like all the TESS superheroes, he shows amazing strength, determination and resilience. It is in their genes.
Amrik received his diagnosis for SLC13A5 in 2018, when he was nearly 6 years old. To have an answer was helpful to us as parents, but also daunting, that is until we discovered TESS Research Foundation. TESS has been a haven of information, support, empowerment and hope.