When we found out we were pregnant with our second child we were delighted! We had always wanted a sibling for our 3-year-old son Ronnie. The pregnancy progressed as normal, with no causes for concern, until we attended a routine scan at 36 weeks. The sonographer noticed something unexpected on our daughter’s brain. The ultrasound showed a small cyst within the structure of her brain that would need further investigation. We were sent for an in-utero MRI. This revealed ‘a most likely harmless’ cyst, we were told to keep an eye on our daughter once she was born but that everything was likely to be okay.
On my 36th birthday at 9.40am our baby girl, Violet, was born; small, loud and perfect! Due to the concerns around the cyst she was checked out by a number of paediatricians within the first two days of her life but was given the all clear to return home, showing no cause for an additional concern.
At around 7 weeks old, we noticed Violet doing some strange eye movements, something didn’t feel right at all but I filed it away as something to keep an eye on.
After the abnormal ultrasound my husband and I both found ourselves over-analysing everything she did. Within a few weeks however alarm bells began to ring as Violet appeared to be having small seizures of some sort. She would jolt, extend her right arm, turn her head to the right and become fixed in that pose, completely zoned out, for 10/15 seconds before coming around. Obviously, I then did what any concerned mother does in a panic and googled the hell out of it! I came across some of the awareness videos made by UKIST and became convinced something was not right. We raised it with our health visitor who suggested the GP. The GP thought ‘possible Sandifer’s syndrome brought about by reflux’ but he recommended we take her to the Children’s Assessment Unit as a matter of urgency, just in case.
The consultant who saw Violet and the video footage we had taken of her episodes, immediately booked her in for an EEG to determine the cause of her strange movements. She cried throughout most of it (nowadays she takes an EEG like a pro!) Soon enough they had enough data to diagnose Violet with focal epilepsy. “Its good news that it is not the spasms”, her doctor told us. They started her on some anti-epileptic meds and we were told to monitor her closely, keeping a log of any seizure activity we saw. She remained an inpatient as they began the testing process to determine the underlying cause of our baby’s new diagnosis.
We waited and drank bad cups of tea as she underwent a range of tests. An MRI, a lumbar puncture, blood analysis, a further EEG, lots of poking and prodding and needles. The MRI revealed that Violet had a congenital malformation of the brain, known as cortical dysplasia, on the right side, which could well be the cause of her epilepsy. More surprisingly and by sheer coincidence the images revealed a large tumour in the space at the back of our baby’s cheek. Now we found ourselves in a new nightmare, out of the frying pan into the fire, waiting to find out if the tumour was cancerous and what that could mean for our tiny girl’s future. The doctors began a series of long consultations with panels of doctors from around the country. At one stage Violet’s consultant came to update us “I’m sorry, I’ve spoken with the consultants at panel and after reviewing the images, they feel unfortunately, it is most likely something malignant” he said. It’s a cliché I know, but I genuinely felt sick and weak and faint. I clasped her tiny little body to my chest and began to cry, in disbelief that things had escalated so quickly from bad to worse. About an hour later Violet’s doctor returned and told us that after speaking with further professionals, they actually aren’t sure of the tumour’s malignancy at all and that the most likely next steps would be a biopsy. Talk about a roller coaster of emotions!
Violet was transferred, via ambulance, to the Royal Manchester Children’s Hospital children’s cancer ward, where she had another MRI, a CT scan and more and more
tests. She was eventually discharged just before Christmas with an outpatient’s appointment for a biopsy. I received the results of the biopsy over the phone, while
doing the ‘big Christmas shop’ in Tesco. The doctor on the other end of the phone informed me that the tumour they had found was not malignant but was actually
something extremely rare. The tumour was made of mature brain tissue! Violet had something called Glial Heterotopia. While forming in the womb Violet’s brain malformations also included a small section of brain tissue becoming separated from the main structure. It began to grow inside the pharyngeal space and became a large tumour. Violet will most likely need surgery to remove this one day but for now it poses her no immediate threat. We are so grateful, every day, that this was the outcome. Our time on Ward 86 had been one of the most life altering and humbling experiences I have ever had. The families we met and the stories we heard will stay with me forever. Children really are unbelievably resilient, so naturally predisposed to try to seek out moments of joy; hide and seek, eye spy, car races in the corridors.
Over the next few weeks of December out of nowhere Violet’s seizures began to change. Instead of having one long fixed seizure, eyes fixed and staring she began to have multiple, small jerking movements in clusters of 10 or 12. I’ll never forget the weird jolt of energy that went through her with each spasm, like someone had shocked her with the touch of a faulty wire, running through her body and into me. We contacted her epilepsy team and sent video after video, enough to convince them that she needed to be seen. A new EEG showed the presence of “hypsarrhythmia” (the trademark chaotic brainwave pattern of IS) and our fears were confirmed as she was diagnosed with Infantile Spasms
We started the steroid treatment (Prednisolone and Vigabatrin combination) almost immediately and almost immediately they took effect, along with the infamous side effects; chronic tiredness, incessant hunger and massive weight gain (so much that we barely recognised her!) but worst of all her personality just seemed to drain away. She stopped smiling and would just lie there all day. The steroids were awful, much harder than I thought is was going to be, it definitely took its toll on Violet and the rest of the family, but as we were repeatedly told, it was a much better than the other option of letting the spasms go untreated. After a week or so and an increase of the dosage of her meds, Violet’s spasms had stopped. We finally got the day without spasms that we had wished so hard for while in hospital watching her spasm become more frequent and more severe. That day turned into two, which turned into a week which then turned into just shy of three months of seizure freedom. We weaned the steroids and our baby girl began to come back to us, smiling, laughing, engaging with her family again. Two follow up EEG’s showed that Violet’s brainwaves patterns were now within normal parameters!
Three months after weaning the steroids, while getting the kids ready to go out, I noticed Violet rolling her eyes to the right in a repeated cluster. My stomach turned over as I immediately knew, the spasms had come back. We took her into the hospital and asked her epilepsy team to review the video footage we had brought with us. They didn’t share our concerns and thought it was not likely to be seizure activity. We went home. That evening she had another cluster of eye movement when waking from a nap, this continued throughout the next day. We filmed everything and contacted the team again asking for another EEG. Unfortunately, we were right and she was suffering a relapse. Her medication dosage was increased and so far, so good. But everyday I wake up and think; is today the day they come back? Is today the day something awful happens? It’s a hard way to live but hopefully it won’t be forever.
Violet is now nearly 8 months old, she is a very happy baby, babbling, shouting even, holding her head up with more confidence and she recently beginning to roll over on her own. Delayed milestones but milestones that we are incredibly grateful for, nonetheless. The cause of Violet’s epilepsy is still not entirely clear but it is believed that she will most likely go on to have more seizures throughout her life. There is talk of brain surgery but nothing concrete yet.
We don’t know what the future holds for our chubby little powerhouse, I can’t let myself think of it, it’s all still too raw and too sad. I do know this, whoever she will be, she will be incredibly loved.