Created by Bohdi’s aunty, please read his story

Bohdi was born the 9th of October 2025 and is our pride and joy and everything we could have ever hoped for. After 10 years of infertility, heartache and giving up hope that we will never start a family, Bohdi chose us to be his parents and I will be forever grateful that I get to be his mumma. Bohdi has completed us, grounded us, made us slow down and appreciate the little things. He is simply our miracle. Bohdi was a healthy, happy baby and around 7 weeks old his family noticed him having limb jerks and random movements. This continued until Bohdi started showing signs of having seizure activity. Bohdi was admitted to Gosford Hospital before Christmas 2025 where Bohdi had tests done and the seizures continued. MRI, EEG and a lumbar puncture were done and his parents could take Bohdi home for his first Christmas awaiting the results.

Everything seemed to settle and results came back good. Until the 6th of January when Bohdi appeared to be having more seizure activity. Bohdi was referred to a pediatric neurologist by his GP and that appointment was the 3rd of February. She confirmed through videos that she believed Bohdi was having seizures and medication was started that day. Since taking medication the seizures increased over the coming days and I took him back to the hospital on the 6th of February. Bohdi was then transferred to the Children’s Hospital at Westmead on the 7th of February for further testing. Bohdi underwent multiple EEGs, MRIs, blood tests, and Ian and I had blood tests for genetic testing to be completed. His neurologist team started Bohdi on several anti-seizure medications to try and get some seizure control. Bohdi was having upwards of 20 seizures per day in the early days. We just wanted answers and a treatment plan for our son but as the days went on Bohdi was having more and more seizures and medication just was not working. Bohdi was transferred to PICU for close monitoring and was there for 1 month on a midazolam infusion to try and give his medical team time to come up with a plan that will give Bohdi quality of life.

On the 27th of February 2026 our world was turned upside down. Our 4 month old miracle boy was diagnosed with KCNT1 related epilepsy. It’s a rare, severe genetic disorder caused by mutations in the KCNT1 gene.

We are absolutely devastated with his diagnosis and what his life will now look like. Our boy has gone from a happy, talkative boy that never stopped kicking his legs and chatting with his hands to a little boy that lay in a bed, stopped moving and looked sad all the time.

Bohdi’s seizures continued and medication was not working. Bohdi had over 70 seizures in just 1 day. Bohdi started on a ketogenic diet to help with the seizures and I stopped nursing our boy. He was fed through a tube in his nose and stopped taking anything orally.

Medication continued to not work and I was told throughout his stay in PICU to hope for the best, prepare for the worst. In my head I was planning Bohdi’s funeral, I honestly thought I was going to lose my son. A conversation about a clinical trial came up and would I like Bohdi to take part if they could get it approved. The company Actio Biosciences are American-based and have worked on this drug to try and treat the root cause of the condition. To try and decrease the seizures and improve quality of life. There was a catch with Bohdi though. If I said yes and it was approved here in Australia, Bohdi would be the first human to be administered this medication that has KCNT1 related epilepsy in the world. I was absolutely petrified for Bohdi, but the alternative was scarier. We were at risk of losing our son, I said yes to the trial.

The midazolam infusion was not working at all and it was decided he would come off that and go back to the ward and wait for approval. Approval took 6 weeks and I couldn’t sign the paperwork quicker if I tried. We were told again to hope for the best, prepare for the worst. This drug may not work, no one knew if it would work. Bohdi’s neurologist ordered the trial medication from America and now it was sit and wait.

In that time we were able to go home for 2 weeks and just be a family and enjoy our time with Bohdi. I then received a phone call on the 20th of April, the medication had arrived. Mum and I packed the car and the 3 of us went back to Westmead Children’s Hospital.

Trial medication started 21st of April. The plan was to start with 2mg once a day. Seizures continued, every time Bohdi had a seizure, I lost hope, my heart was breaking, I just hugged Bohdi and told him mumma was here. Bohdi had blood work taken all the time to check the levels. I was told to treat it like every other medication, give it time to build up in his system.

On the 23rd of April Bohdi, mum and I met the amazing team from California that created this medication. They came to Australia just to see Bohdi. I was able to ask questions face to face. Some questions weren’t answered as we are in the unknown but we were welcomed with kindness and warmth and they truly only wanted the best for our boy. Seizures continued and on the 24th of April doctors advised the medication was barely in his system and they were going to up the medication to 5mg twice a day. I was giving up hope, I cried, I held my boy and begged for this medication to work. Bohdi’s last seizure that day was 7:58pm. Bohdi has been seizure free ever since.

Bohdi now has the fight to regain himself again. Bohdi needs a lot of occupational therapy and physiotherapy to regain everything. Bohdi lost all of his milestones and needs to learn to move his body again. Bohdi also needs speech therapy. He has lost the ability to drink from a bottle so the nasal tube will stay in for a while. Bohdi has improved so much in the last month but the fight is not over. He is looking at years of therapy, blood tests every week and a lifetime of battles ahead of him. We are thankful for this medication and the fact it’s working but we are always going to worry if it stops working.

Thank you to Actio Biosciences for creating this miracle, thank you to the KCNT1 Foundation for their ongoing support but more importantly thank you to the nurses and doctors at the Children’s Hospital at Westmead for their kindness, their support and for advocating for my miracle boy. Dr Kothur I owe you my life for saving my little boy. I will always hold you so close to my heart and will be forever grateful for what you have done for Bohdi and my family.