Hello, I’m Jack’s mum, Nichole. This is the story of our little boy’s past year.
This time twelve months ago he and I were halfway through a very difficult nine days stay in hospital. Jack’s dad, my partner Jason, wasn’t allowed to stay in the hospital with us, but joined us every evening for a few hours after work for much needed hugs!
Jack had to have many tests during that week; an EEG, ECG, lumbar puncture, MRI, X-ray and repeated blood and urine tests. It was an extremely worrying time for us, filled with many tears as we watched our little seven month old baby hooked up to machines, especially when he was put under general anaesthetic, feeling helpless not knowing what was wrong with him.
Then the news came, we were told Jack’s brain showed the abnormal electrical activity and hypsarrhythmia of West Syndrome/Infantile Spasms – a type of infant epilepsy. We were shocked, scared, and like most people had never heard of the condition. We got straight onto Google, researching and reading everything about it that we could find, that led us to find UKIST. The charity has been invaluable to us to learn, to ask questions and to connect with other families on this same path.
Jack was straight away started on a high-dose combination of the two most commonly used anti-epileptic drugs, which both had a good success rate when used in conjunction with each other. Although initially we did see results with these drugs, the side-effects were tough on Jack’s little body. Jack’s personality completely changed, he no longer smiled or laughed, he no longer kicked his legs about, his body lost tone and became floppy. The steroid made his blood pressure too high, so he had to have another medication to keep it in check. It also made him immunocompromised, which meant we spent many months indoors away from family and friends to protect him. As the country was starting to open back up again, as Covid restrictions were being lifted, we were back into isolation for a different reason. Jack’s weight ballooned, he had an insatiable appetite, sleepless nights, and he was thoroughly miserable. Jack did two rounds of the steroid treatment, with the second round leading to medication toxicity making his seizures increase in severity, and he became very poorly as a result.
To backtrack a little, the thing that led Jack being admitted to hospital initially was that he had been doing some unusual movements. His arms would sometimes fling outwards, and he would look startled. We felt that he wasn’t meeting the ‘typical’ milestones for a baby of his age, he didn’t often make eye contact with us and had no interest in toys. Also on the day of admission, Jack’s eyes had started to do a ticking motion up and down. In the weeks prior when we brought up these concerns with our GP, he reassured us that babies are all individual and develop at different rates, with him being a low birth weight and being born early, that he would catch up in his own time and that the unusual arm movements was retention of the Moro-reflex.
When Jack was eventually discharged from hospital, we were so happy and relieved to be back home (and in our own bed!) if not a little daunted with our new normal of giving medication round the clock and monitoring seizures, without the help of the wonderful NHS nurses, whom I’d become so reliant upon for their care and support during those nine days. However, on day three being back at home hit us hard. Early that morning, Jason and I woke to Jack having a tonic-clonic (grand mal) seizure. It was the most frightening thing to witness happen to our little boy, Jack had never had a seizure like that before, so we had no idea what was happening to him or if he would come out of it. His eyes rolled back, his body was stiff and jerking continuously during what felt like the longest thirteen minutes of our lives. We were doing our best to comfort Jack, holding him and talking to him to reassure him…and ourselves. When Jack came round, the ambulance still hadn’t arrived (Covid was badly affecting the emergency ambulance services during that time), so we hurriedly made our way back to hospital. Jack was given rescue medicine to go home with should he ever have a seizure lasting longer than five minutes in the future. Jack has had many tonic-clonics over this past year, and has unfortunately developed several different seizure types too.
Jack has been on different combinations of AEDs (anti-epileptic drugs) to gain seizure control, but this hasn’t happened yet – we remain hopeful! Because of this Jack’s epilepsy is classified as drug-resistant. He is still on three AEDs, and in the process of slowly weaning two of them.
Jack recently started on the Ketogenic diet, which is a treatment for drug resistant epilepsy, and has had a 75% decrease in seizure activity! He was having around 150 each day when he started the diet, so we are thrilled with his progress, and with further adjustments, we are hopeful to see further reductions. I do a twice daily blood test on Jack to check that his ketone and glucose levels are within range. He is so brave and handles it like a pro! Alongside epilepsy, Jack has hypotonia and developmental delay. Like most babies with epilepsy, it is especially hard to learn and retain new skills at a ‘typical’ rate, as the seizures disrupt normal brain activity, and make Jack very sleepy and irritable.
Jack has a large team of medical professionals helping him both in and out of hospital, and has physio, speech and language therapy, and occupational therapy sessions, which he is responding well to. Jack sleeps nightly with a SATS monitor as he has a risk of SUDEP (sudden unexplained death in epilepsy). This monitors the oxygen in his blood, and his pulse, which will sound an alarm if these levels go above or below his normal range. We were kindly gifted this monitor by the charity Daisy Garland, who support children with drug resistant epilepsy.
The results of Jack’s whole genome sequencing genetics test came back recently as clear. This means a genetic cause hasn’t been found at this time, but as genetic testing is an evolving science, a genetic cause may be found down the line.
Although we would love to find a cure for Jack’s seizures, the main thing we want is for Jack to be happy, when he smiles and laughs he lights up the room. He is our little hero and we love him beyond measure. Despite his challenges, that no little person should have to go through, his cheeky, loving and headstrong character shines through.
Thank you to UKIST, Daisy Garland and the NHS for all of your advice, care and support. We will be forever grateful.”