"A little glimpse of normality in a world of chaos”: Freddie’s story

***Trigger warning: This story contains images and details that some readers may find upsetting***

When Imee and Matt welcomed twin boys Freddie and George into the world, they were delighted to add two new members to their family in Stockbridge. After a few months with the boys, the family realised that they were progressing at very different rates and despite not wanting to compare the development of their twins, they soon realised that Freddie’s behaviour was something more serious.

An extremely rare diagnosis and ongoing seizure cycles meant that Freddie’s trips to the hospital in Southampton became frequent and his family were in for a tumultuous period ahead.

Guest Blogger: Imee

It was a textbook pregnancy for the twins with nothing to indicate things weren’t normal. Freddie was a c-section but that’s only because his brother kicked him back up on his way out. It wasn’t until two to three months later that we started to notice that George was progressing a lot quicker than Freddie. George was sitting and reaching for toys and giving me eye contact while Freddie was just there, not doing anything, he didn’t even respond to kisses. It was very difficult to get the doctors to focus on Freddie as an individual child because they would take the boys together and say not to compare the two.

By the six-month mark Freddie starting doing some unusual movements and at eight months we took him to hospital when my mum noticed Freddie’s behaviours looked similar to seizures. We ended up heading to see the Neuro team at Southampton Children’s Hospital because Freddie’s seizure treatment just wasn’t working, where we stayed in Ronald McDonald House Southampton initially for a month and a half.

They found that Freddie had SCN2A epileptic encephalopathy, which is a rare genetic mutation. SCN2A is the leading gene which causes Autistic Spectrum Disorder (ASD), but ASD with epileptic encephalopathy is quite rare. Unfortunately for Freddie, everything about his condition is a spectrum and Freddie is high on all levels, which unfortunately means his condition is life-limiting and we’ve been told he won’t make it to double digits. However there are a lot of cases of people with this condition leading healthy, amazing lives.

The developmental delay that he has means that he still hasn’t surpassed two months in development. He can’t smile, he struggles to interact with things and can’t pick up toys. He did manage to smile when he was about six months old, literally just before all of this kicked off but since it started, he’s regressed back.

Essentially, Freddie’s not in control of what his brain does and all the movements he does are involuntary. He can’t hold up his head and has to be supported at all times. Most people with SCN2A can sit and eventually walk but Freddie has to lie flat. If you lift him up, he will seize just from overstimulation, so even hugging him is quite difficult. If we can get down to him we can hug him that way.

It’s been a very steep learning curve with all the information on how Freddie is potentially going to experience his life, but it’s knowing that there is an endpoint that’s been really hard. I’ve had several breakdowns. I think the hardest bit was to relinquish control and trust the doctors who don’t know why he’s seizing, and yet they’re giving him medication that is making him worse. Because it’s all trial and error with seizure medication but Freddie can’t communicate how the medication is affecting him.

We’re incredibly lucky in Southampton, that the consultants and neurological experts are some of the best in SCN2A in the UK. I can’t imagine going through this with Freddie anywhere else. The experts are still in the research stage and there isn’t a cure because it’s genetic but balancing the meds and getting the medication right is essential in gaining life quality.

Freddie has been in and out of hospital and we bring him in when he gets stuck in a seizure cycle. When we can’t get him out of the cycle, Freddie comes to the Peadiatric Intensive Care Unit (PICU) to be fully sedated and placed on intubation. Most recently was Freddie’s worst seizure cycle ever. He experienced six and a half days straight of seizures and even though he was on an adult’s dose of ketamine and midazolam he was still awake and still seizing. I honestly thought he was going to die.

This very long seizure cycle marked our fourth time in the House in in the space of ten months. The hospital is quite a journey from our smallholding in the middle of nowhere near Stockbridge so the House has been a godsend. I can’t drive so I had no way of getting to and from the hospital. I thought that if I can’t sleep next to him, I’ll just have to stay awake the whole time, the House saved us from having to go through that.

My husband Matt stays home with Freddie’s twin, George, their older sister Oakley, and the animals. Matt tries to bring the kids over every other week. They love coming over to the Ronald McDonald House, Oakley gets very excited and says, “I’m going to go to ol’ McDonald”.

It’s nice as well that we are so close to the hospital because Oakley is desperate to see Freddie. She loves to have a look at him and give him kisses and talk to the nurses. Then we can pop over to the House and we can play with the toys and have some lunch and it’s lovely. It’s a little glimpse of normality in a world of chaos. This place gives me space to ground myself and make me feel like I’m okay and I’m strong enough to look after everyone else.

Sometimes I feel a little bit lost, and I don’t know what to do, and the House team will just chat and happily talk about anything and everything. They’re just amazing, if I need to vent or rant or cry, there is always someone there. It’s so easy to feel alone especially when you are watching your child who’s poorly and there is nothing you can do, you’re trying to get your head around all the medical terminology and your partner and family are elsewhere. It’s been a godsend to be able to come to a safe space. Whether I need to scream and cry into a pillow or reach out to the House staff and say, ‘Hi guys I feel like rubbish, I feel so alone,’ there is always someone in the House to just listen and be there with you.

The House brings together so many families, offering a massive support network. The mums that I have met here are my new friends for life because we are all going through our own personal hell with a poorly child. Yet we can talk to each other, we can rant and rave, and it’s someone who isn’t necessarily in the exact same situation but understands you.

My motto has been: breathe deep, dig deep and go back in.

Staying in the House has really helped me because I know that Freddie’s condition means that he’s going to have a much shorter life, and I’ve met so many mums who have unfortunately lost children, and hearing their story has helped me become brave for Freddie.

It has also helped myself and my husband decide that we want Freddie to be an organ donor. We know a little boy who stayed in Southampton has now been told that he needs to have a heart transplant in the future. Getting to know that little boy’s mum and her story, has inspired us to ensure Freddie’s legacy is alleviating someone else’s pain and stop someone’s nightmare.

SCN2A was only discovered 15 years ago so having SCN2A Awareness Day is so that the researchers get support and can accelerate their work. Freddie isn’t going to benefit from what the researchers are doing but maybe children in another 15 years will be able to gain some quality of life with greater awareness and support for the cause.