Soapbox: Jorja, her rare condition and a pressing need to legalise medicinal cannabis…

Robin Emerson is father to Jorja Emerson and keen activists for rare diseases and the legalisation of medicinal cannabis.

Jorja Emerson was born on 26th February 2016, a beautiful baby girl weighing just 5lbs.

After a number of months, we started noticing that Jorja was not developing like a typical baby her age, and in December we discovered that Jorja had a rare 1q43q44 chromosome deletion, and was most likely the only baby in Ireland with this specific chromosome deletion.

We didn’t know what this meant!

The Unique centre were great and informed us that there were other families around the world with the same deletion, mostly based in America, and the typical features that Jorja would likely have were: microcephaly (small head), heart problems, low muscle tone, centre hypotonia, severe delayed development, and the big one – epilepsy.

Jorja would suffer from life threating seizures.

We understood that the road ahead would be difficult, but Jorja is our baby girl and we would do the best we could to provide her with a good quality of life and celebrate each little achievement, like the first time she rolled over on her own, or the first time she grabbed and played with her toys.

Everything was going well with Jorja making great progress in her therapies and she had the most infectious smile and giggle. Then began her first seizures

Time in hospital increased over the coming months, spending New Year’s Eve and birthdays there, and gradually more anti-epileptic drugs were added to Jorja’s growing list of medication.

We thought we had got the seizures under control but then they hit like never before in summer 2017. Jorja was again rushed into the Ulster Hospital, but this time they couldn’t bring her out of seizure, they couldn’t even get her blood! They drilled what is called IR into Jorja’s bones in her legs to try and get blood.

Even that did not work and everything was causing her more distress. We thought for the first time ever that there was a serious chance we were going to lose our baby. The Senior Paediatric Registrar explained that it was approaching an hour into seizure and Jorja was not coming out, so the decision was made to incubate Jorja and put her into intensive care.

To our relief and amazement when brought around the following day Jorja was out of seizure and a couple days after that she was smiling and giggling again. Our Jorja was back.

Unfortunately, this was to be short lived. On 10th July she was transferred back to the Ulster Hospital, but in the early hours of the 12th July she again had a terrible seizure. The only different was she was on the ward this time.

They gave her a rescue medication, but it didn’t work. They tried more medication, but I t didn’t work. Doctors phoned to get advice from her neurologisthe instructed more medication to be injected into her, but still nothing worked.

Time was marching on and we were already long past the guidelines of maximum 1 hour in seizure. The only brief break she had was when her eyes closed after receiving one of the drugs, but boom her eyes opened some 20 minutes later and she was still in seizure – she had never come out!

It was a public holiday in Northern Ireland and poor Jorja had her hopes pinned on doctors that were out of their depth! It was only getting worse, as Jorja was in full tonic clonic seizure. At one stage her heart went to over 220 bpm and dropped within seconds to 50 bpm before regulating.

Jorja’s mum had to scream out for someone to help her baby, and eventually some 17 hours later Jorja was incubated and put into intensive care. How she survived that night I will never know, we have a true fighter!

This time when they tried bringing Jorja around in intensive care she went straight back into seizure. I argued with her Neurologist consultant and the lead consultant in intensive care that she needed to be put into a deeper sleep so that her brain could reset itself as I had seen this process work with other children in America.

They agreed reluctantly, but it worked! The next day Jorja was out of seizure!

Little did we know our pain was only beginning. The neurologist consultant had taken an MRI scan and came to the foot of Jorja’s bed in intensive care with the results – Jorja’s brain was decaying and in his opinion she was going to succumb to this and we didn’t have long left. He said she was a very sick baby.

I could not believe this; my world fell apart! Somehow, we managed to get the strength to keep going. After days of talking with our support group for Jorja’s chromosome deletion, none of them had ever heard brain decay linked with the chromosome deletion and that their child could die from it!

We eventually got Jorja home in September, but she was not the same baby – she had lost her smile, lost her giggle, her development had back-tracked.  We instructed KRW law to represent Jorja. After many months of legal battles, we got that important further MRI in April 2018, and as we thought and had fought for, her brain had not decayed like we had been told it was.

We also employed the services of Boston Children’s hospital to review Jorja’s scans and treatment. They are also of the opinion that Jorja’s brain is not decaying and is stable and that she is not going to die from this, but instead it is brain abnormalities which are a part of her deletion and not a progressive disease which we were previously led to believe.

The main thing that was raised from Boston was the cocktail of anti-epileptic drugs that were being used and their heavy sedating effect. They explained how these would be bringing down Jorja’s quality of life and her ability to progress in her therapies – it all made sense.

Jorja has been fighting from the day she was born for her place in the world, yet our government and health service refuse to even let her try medicinal cannabis – a drug that works with many other children with epilepsy and Jorja’s chromosome deletion, as seen in the USA.

As a father, I have to watch as babies and children in our 1q4 support group put pictures and videos up of their children thriving and being able to attend their therapy sessions without being sedated due to a cocktail of drugs. I have to read as they celebrate reaching milestones and remarkable stories of being seizure free for long periods of time.

The postcode lottery that Jorja was born here in the UK prevents her from this life saving drug. The government say that there is no proof it worksI say they should take time to look at the thousands of babies, children and even adults across the world that use it daily and ask them if it works, ask the parents of the children that I have to watch thrive if it works?

It is time for unnecessary suffering to end. It is time for Jorja to get her medicine and it is time that the British government allow the full regulation of medicinal cannabis closely monitored by doctors to be available in the UK.

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