Our December warrior Willow – beating the odds

Willow was born on Wednesday 27th January 2021 via forceps delivery after a lengthy induction. There were no complications once she was born, just pure love and joy of our beautiful baby girl entering the world. We went home the next day and started our new lives together.
Around 5-6 weeks old we noticed Willow was trying to “sit up” which we joked about as we thought how can such a tiny baby be wanting to sit up at only a few weeks old. Then my maternal instinct kicked in and I knew something just wasn’t quite right. I used the dreaded search engine google “baby doing sit up” to read either reflux or epilepsy. Straight away I put it down to reflux as I couldn’t imagine what she was doing was epilepsy. Then about a week later as she tried to do this “sit up” movement Willow’s legs then flew up dramatically into the air also and created a crunch like movement. I then googled “baby doing crunch movement” to come across infantile spasms, and my heart sank. I went on to YouTube to find it was identical to the movement our new born baby girl was doing.
I called 111 who told me to see my GP the next day. I couldn’t sleep with fear so the next morning I got myself and Willow ready, called her dad to come home from work and off we went to A&E. I’d recorded the movements from the night before as I read that was something I needed to do so I showed the nurses who were all puzzled. We then saw a trainee doctor who wanted to send us home as he believed it was reflux. I called my partner and said we’re coming home as they aren’t concerned but something just made me sit in that hospital chair and wait. I couldn’t leave, I knew something wasn’t right! Another doctor then came in and said Laura you’re free to leave and I stood my ground and said “No, I need a second opinion please take a look at this video” so she did. That day on the 17th March 2021 our lives changed again. Willow went on to have emergency EEGs, bloods, MRI, lumbar punctures, cannulas – I couldn’t believe what I was watching. Willow that day had a total of 130+ seizures and our world was turned upside down.
We were transferred to the children’s hospital in Newcastle, Willow was transported by ambulance and I followed her after going home and picking up a few bits not knowing what the future held or what any of this meant. All I could think was “Why my baby? What have we done for this to happen?”. Seeing your tiny 7 week old baby tied to a stretcher wasn’t the idea of motherhood I had and it absolutely broke me. We arrived at the RVI in Newcastle children’s neurology ward where Willow was now being treated. More EEGS, bloods etc. We started Vigabatrin and prednisolone straight away which less than halved her spasms so we upped the doses to then making her have from 10-40 a day. Then we decided the try ACTH another steroid but an injection form which took them down to around 5 a day! I was desperate to get them to zero as I had been told about the damage they can do. We still lived in so much fear. We were also on multiple vitamins and another drug called keppra, as because we didn’t know the cause our neurologist just wanted to try all medication that could possibly help. Nobody knew the cause of Willow’s spasms so we then went on to have WES (whole exome sequence) genetic testing done.  We were so fortunate to be offered WES as it’s just become a new service in the UK around 2 years ago and it’s not something they normally offer, so we felt very lucky but also terrified to see what they would find. Myself and Willow’s dad also were tested to see if it was something inherited. We then went home around 3 weeks later, still having around 5 spasms a day at this point (sometimes a few more). I was terrified to take my baby home knowing she was still having them but it was a relief to be in our comfort of our home. As ACTH hadn’t took them totally away we then decided to wean that and to start looking at the next option. We were heartbroken still.
I then got a call to go back to the RVI for a follow up appointment which I knew was some results. We arrived, to a room full of doctors – I felt sick to my stomach. We were told to sit down as it’s bad news. Floods of tears were in the room I feared they were going to tell me I’m loosing my baby girl. I remember everything stopping as I just couldn’t believe the situation we were in. The doctor then went on to tell us that Willow has a spontaneous mutation on her SLC35A2 gene.  Again I cried “Why Willow, how on earth has this happened”? We had no clue what it meant and neither did any of the doctors or specialists in that room with us. We felt alone and extremely scared. He then said as it’s so rare he has no information on this and wasn’t sure where to go next. We were told he read about some cases online and to find they’re were only 60 cases worldwide. He was then heartbroken to tell us that Willow will never be able to walk, talk, sit or possibly ever even hold her own head. At this point I couldn’t even describe how myself and John were feeling. I remember looking at John and saying “It’s going to be okay J, it’s our Willow she’s a warrior, she can do this”. My maternal instinct kicked in again and I just felt she was going to be okay.
We got home and suddenly out of the blue as we were weaning ACTH we had our first ever seizure free day which then turned into a month, then two and it went on and touch wood we’re still seizure free to this day now. I couldn’t believe our luck as another thing we were told is that we would probably never gain seizure control. But we did. Willow did. Also we then went on for a repeat EEG to see how things were looking to find not only was there no hypsarrhythmia but there was no background seizure activity at all going on!!! Finally HAPPY tears!! We then went onto see the specialist at Great Ormond Street in London about the genetics as I found her online searching for help, she also agreed that Willow looks like a milder case and she doesn’t see why she won’t walk or talk or do any of those things. What a relief it was hearing those words. Willow was developing quite well, slower than her peers but she was getting there! From this point I decided to stay off the dreaded google as I found it always tells you the worst case. My mental health just couldn’t take any more worst cases. Willow learnt to roll about two weeks after travelling to London which we were over the moon about, she then went on to fully hold her head, play with toys, laugh, giggle and she’s now even sitting independently!!! She is almost coming up 10 months so has come on absolutely tremendously! We still count our lucky stars and all the doctors that looked after us! We have now also been lucky enough to fully wean from the Vigabatrin so we’re excited to see where this takes us. Please don’t give up hope, each case is so different. But make sure to record any suspicious movements! We are so proud of you Willow you really are a true warrior. We all love you more than you could ever know! Keep smashing it, you’ve got this ♥️