Emily's Story
People always comment on Emily's sweet nature and her passion for life, she teaches us so much about perspective, living in the moment and determination. I hope with all my heart and soul that Emily's story continues to be a happy one, and I will do everything in my power to make that happen..
Kelly
Emily's Mum x
Facing adversity...
It is so hard to know where to begin, I actually cannot stand thinking back to that awful day that Emily had her first seizure, a crazy 72 minute long eternity. It was a horrifically frightening thing to witness happening to your 15 month old little girl, we were all at home, Maxi, Emily, Oliver and I, and I remember Oli was upstairs in the shower when Emily became floppy and unresponsive, she was just staring over my shoulder, not looking at anything and dribbling, I held on to her repeating over and over, mummy’s here sweetie, I told Maxi to go get daddy quick as I needed him. When Oli saw Emily we quickly decided we’d get her in the car and take her to the hospital a couple of minutes away, on the way Emily’s lips started turning blue and twitching. Maxi was asking if Emily is ok and what’s wrong with her, all we could say was that she just needs help from the Dr and she’ll get better so try not to worry - this was obviously much easier said than done. When we arrived, we got taken in to a private room and I put Emily in a bed and stayed next to her as they put oxygen on, we explained what had happened, the Dr asked many questions and decided to give Emily rectal diazepam to stop (what we now knew was) the seizure, this did nothing and Emily was going blue by this stage. As I focused on talking to Emily, the Dr and Oli were calling an ambulance as we were at an outpatients hospital without an A&E department, we clearly hadn’t known this before, the Dr explained he was a GP and he’d reached the extent of what he could do, unbelievably the ambulance service still deprioritized Emily as we were at a medical facility, even though the GP was explaining this little girl is going to die if you don’t come immediately, he was advised to administer more rectal diazepam, and again this had no effect on poor Emily who’d been seizing now for about 30 minutes. Oli was reaching boiling point and the GP had put the phone on speaker saying the Dad was standing with him and to repeat what they had said, shockingly they said “we are busy” and hung up!!
At this point we were desperate and the GP said let’s get her in my car, we’ll take her to the hospital ourselves, it’s her best chance as she is dying here, so in an instant we picked Emily and the oxygen tank up, grabbed Maxi from the waiting room, and were just getting outside when the paramedics turned up, Emily and I quickly got into the ambulance, explaining all the way what had happened leading up to this point, they strapped me and Emily into the bed and we were blue lighted for 20 minutes to the hospital, Emily was laying on me absolutely exhausted and so weak at this point, she looked like she was passing in and out of consciousness but the paramedic kept opening her eyelids and could see she was still seizing. I just kept talking to Emily so she knew I was right there with her.
When we finally got to the hospital, it was a barrage of nurses and Dr’s coming to prod and pull at Emily, I remember needing to stand back but keeping hold of her tiny hand, answering all their questions and finally asking my own of weather she was still having the same seizure, again the answer was yes and my heart sank even further knowing this was truly bad. Oli flew in explaining that Maxi (who was 4 at the time) wasn’t allowed in here so we did a quick swap where Oli stayed with Em and I went to check on Maxi and tell him Emily was getting the Dr’s help now and what an amazing boy he’d been, he was shaken but he was so brave and strong. Oli had called our amazing friend “Auntie Lisa” who’d dropped everything to come pick Maxi up from the hospital and take him back to his best buddy Harrison to take his mind off this awful situation. When both Oli and I back were back in with Emily one of the Dr’s said they need to get a line in to one of Emily’s veins, this was an almost impossible task, it must have taken 20 attempts in each limb to get it in, we will never forget this twisted moment of elation at hearing Emily crying out and wriggling at the pain, it was more life than we’d seen in what had now been a 72 minute long seizure, and we believe that was what got it to finally stop wreaking havoc on Emily’s poor little body.
One of the Dr’s noticed that Emily was only moving one side of her body and she was rushed away from us to get an immediate CT scan, the wait despite the hectic ER department that surrounded us felt like an intolerable silence, I can’t even tell you how long it was, but when Emily was back with us, she was out for the count, the diazepam well and truly taken hold, FINALLY stable and sleeping off her ordeal whilst we waited to understand why this nightmare had happened. We were transferred to the Paediatric ward and it was here, now half a day later, that Emily woke up and gave us her beautiful smile, seeing her getting back to her usual happy self was such a relief, I can’t even express with words.
We saw the consultant that night, who believed Emily had experienced a temperature related seizure, known as a febrile seizure, caused by an infection in her throat, she was also teething so this had added to the increase in temp, she was put on two types of antibiotics one for bacterial and one for viral infections, and they wanted to observe Emily overnight and said they’d come back and discuss next steps with us the next day after reviewing the CT scan and other test results. After an uncomfortable but thankfully uneventful night, the consultant explained that febrile seizures are more common in children than we might realise, the CT scan showed slightly prominent ventricles in Emily’s brain but it wasn’t something that needed further investigation at this stage, we should keep a close eye on her while the infection clears up but they were comfortable that we could go home. Utterly exhausted and still riddled with worry, we went home. Emily got better, we got back to our usual routines and life returned to normal, aside from the underlying worry of what if there’s something more going on.
Prior to this first seizure, we had started to worry that Emily wasn’t meeting the usual milestones and was not just on the slower end of the scale, our only previous experience was with Maxi and he was always ahead of expectations, so we convinced ourselves for a while anyway that it was an unfair comparison and Emily would get there in her own time. Emily was such a content and easy baby, she’s been besotted with her brother from day 1, watching his every move! Maxi would go into performance mode for her, jumping around like a mad thing! He always got Emily giggling away at his antics! Emily rolled over at 5 months old, started sitting unsupported at 6 months old, and then went to a bum shuffle to get around when she felt like it (which wasn’t often!), eventually crawling at 14-15 months old, followed by walking alone at 17 months old.
Emily’s 2nd seizure happened 4 months after the first, it was much shorter and less intense than the first but still incredibly frightening to see, it was also the trigger point for us to realise there’s clearly something else going on with our little lady that we needed to get to the bottom of. Oli was out of the country working so immediately flew back and came straight to the hospital, Emily was awake and ready for Daddy cuddles, exhausted bless her - having a seizure is like running a marathon apparently. When we got to speak to the consultant he explained the need to put Emily on medication for Epilepsy, that we could choose between 2 anticonvulsant drugs, one of them hadn’t been used on children under 2 before and the other, Dr Google told us, was in the past linked to difficulties in pregnancies later on in life, and here starts the journey of having to choose between the lesser of two evils. We also got given emergency medication for the next time a seizure started, and trained on how to administer it, along with the staff at Emily’s nursery. It was reassuring to know we had a plan in place and knew what to do for next time, but Oli and I always said we felt like the seizures were a symptom of something underlying going on, not the main reason causing Emily to have the seizures, it was just a gut feeling but it drove us to push the NHS hard for answers.
Even though we kept increasing the dose of anti-seizure medication unfortunately it didn’t control the seizures and on average it was every 2-3 weeks that we had to call an ambulance to get Emily back in to A&E, eventually we stopped calling the ambulance out, it pains me to say that we got used to dealing with it all ourselves, feeling we were wasting peoples time, our own included, each time we went in to hospital and had to stay for hours and hours of observations, always ending (thankfully) with Emily bouncing back to her usual happy little self. I have to say although we’ve got “comfortable” managing Emily’s seizure’s ourselves, there is always a thought lurking of is this going to be that fatal one that we all fear most, is the fact that we don’t call an ambulance anymore going to become a gut-wrenching regret.. But you push the thought away and try to carry on.
We were set appointments for a variety of different investigative tests including an MRI, EEG, and metabolic tests, it all took so long, and needed constant chasing and pushing the system to get to the outcome of nothing of significance. It was honestly so disappointing, we just knew something wasn’t right. Developmentally we knew Emily was behind, having met and been assessed by various paediatric professionals, we had ongoing discussions with nursery, then pre-school staff on the extra support Emily required, so we kept pushing for answers in the hope we could gain a better understanding of how we can best support her moving forwards.
In Nov 2019 we were put forward for the 100 Genome Project which carried out whole genome sequencing (WGS) which looks at all your genetic material all at the same time to look for changes in genes that can cause health problems. Emily, Oli and I had our blood tests done and were told it’d be a 3-4 month wait for the results. It ended up being early March that we were sent a letter from the John Radcliffe Hospital where we’d been for our genetic testing with the following question:
Do you think Emily presents with symptoms of BPAN?
No “dear parents”, no “following on from your recent tests” just that question - I recall opening the letter on my own thinking what on earth is BPAN, of course you go straight to Google to look it up and I cannot portray the devastation that engulfed me, the absolute terror of seeing words like life-limiting, neurodegenerative, no cure, painful muscle spasms, Parkinsonism, Altzheimers, early death… Needless to say I was floored, I somehow found myself in Oli’s arms incoherent and trying to explain why I was so upset, I ended up just passing over the letter, which he swiftly did exactly what I had done and looked it up.. I think the only way to describe what we were feeling was shocked and in disbelief. We managed to get a call arranged with Emily’s Neurologist and Epilepsy paediatrician that same day, on that call they explained that they didn’t believe Emily had BPAN, that the chance was so miniscule that it wasn’t going to turn out that way for her, that we needed to wait for the genetic results to be 100% sure but it was their belief that it wouldn’t turn out to be BPAN - the odds were on our side. We also had an explanation of why we had received the letter in the way that we had - apparently one of the secretaries should have ticked a box in the system which wouldn’t of copied the letter to parents, the letter was only ever meant to go to Emily’s Neurologist - thinking back to the time between then and the day it was confirmed that Emily had BPAN, is a complete blur, I honestly have no idea how we carried on with day to day life, we were most definitely in survival mode AND managing all that the Covid-19 lockdowns had to offer at the same time.
3 months after receiving that letter we were asked to attend an online meeting with a paediatric Neurologist called Professor Manju Kurian at Great Ormond Street hospital (GOSH), she wanted to meet Emily via video call and do an assessment, we spent a couple of hours talking about all things Emily - developmental delays, seizure types and frequency, Emily’s little quirks like pointing with her middle finger and repeatedly patting her mouth with her hand, we gave so much detail, often laughing whilst recalling how unique our girl is. It felt good to be listened to, it felt like we were moving forwards towards potential answers which at this point we were desperate for. Professor Kurian explained they’d be in touch with next steps soon, and it was only a couple more weeks that Emily and one parent (Covid rules) were invited physically into GOSH - 06/07/2020 a date as etched into our memories as Maxi & Emily’s birthdays. Diagnosis day.
Maxi was with our lovely friends the Mordt’s whilst Oli, Emily and I drove into London, the plan being Emily and I to attend the appointment whilst Oli waited in the car, on the way there I got a third call from GOSH to check that only 1 parent was going to enter the building, once again I said yes we knew that and only my daughter and I will enter. There were no other words to be said on the journey, I can honestly say the dread and anticipation built with every passing minute. I feel sick now just thinking back.
Oli dropped us at the entrance and I tried and failed to put a mask on Emily, whilst she was trying to grab at mine, not understanding at all why I had this thing covering my mouth. We walked through the security area, found the lifts and where we needed to go, signed in and waited to be called in, it took less than a minute for Professor Kurian to call us into her room, as we entered she asked where Dad was, I said we’d had three calls saying he wasn’t allowed in, she asked if he was nearby so I said yes just in the car park, so she then said call him to come in, he should be hare, it was this precise moment that my mind went in to freefall as I knew what was coming, I knew it was BPAN, I somehow made the call, I somehow managed to make sure Emily wasn’t grabbing equipment or doing something she shouldn’t, I was numb, waiting for Oli to arrive was only a few minutes and then we were there together, Emily sat on Oli’s lap. Professor Kurian looked up from her notes on her lap with a sympathetic gaze, both knowing what she was about to say, our greatest fears confirmed out loud.
Our hearts literally broke right there and then, it’s indescribable the pain you feel when you’re told your 4 year old daughter has a rare, life-limiting, neurodegenerative disease that has no cure. Through our tears our questions centred around when does the devestating degeneration phase start, when does Emily start to loose her skills, the skills we and so many others in her life have been working so hard to teach her, Professor Kurian explained typically in adolescence (10-19), but it can happen earlier or later. We were quiet, depleted and ready to get out of there, both Oli and I were in our own heads driving back in a very fitting wet, grey & silent journey home whilst Emily napped.
We were in a state of shock and disbelief, in that moment everything had changed but Emily hadn’t - she was the same right in front of us. Countless people have said to us “we don’t know how you do it” and obviously there is no choice, however focusing in on Emily and seeing her pure love and joy for life has always kept us going, the same goes for Maxi who we need to protect through this difficult path, they both have an amazing ability to keep your feet on the ground moving forwards, focusing on what’s really important.
For me, I knew I had to keep active to keep sane so I found solace in running and given that fundraising for a cure was without question something we needed to do, I started a JustGiving campaign with the commitment that I would run 30km a week and volunteer 1 day a week to charitable causes. Giving back was incredibly rewarding, I helped in a special needs preschool playing with the kids and chatting and making tea for the mums, and I was a Covid volunteer helping on vaccinations sites, making friendly calls to elderly isolated people and running errands. As people learnt about Emily’s diagnosis, they wanted to do anything and everything to help us raise funds.
We truly have the absolute BEST network of family, friends & colleagues who did bake sales, completed multiple triathlons, organised swimathons and climbed mountains for Emily!! We are so fortunate to have so many insanely brilliant humans close to us and willing to help #forevergrateful
We agreed with GOSH Charity that the funds we were raising via JustGiving would be ring-fenced for BPAN research (though still needing to go through due-process and approvals) by mid 2022 we reached £100,000. This then meant that Professor Kurian was able to go through the GOSH Charity grant call, and apply for a further £150,000 based on her BPAN Gene Therapy proposal that was up against 1000’s of other proposals. Incredibly this resulted in a 3 year project which started in May 2023 and will run until 31st May 2027. To every single person that has supported us, I want to say another HUGE thank you, it truly means everything to us.
For more details on the project press here...
Oli and I had always discussed creating a charity for Emily, to formalize the efforts of raising more funds towards finding a cure, but life was already bursting at the seams with work, school hopping, seizures, constant doctor and therapy appointments, advocating for Emily’s needs to be met, feeling eternally exhausted due to co-sleeping with Emily who is a very very early bird! It felt like there wasn’t space for it, until Emily’s seizures stopped with a new medication - and lovely Nicole finally convinced me there was never going to be a good time, our lives are always going to be hard, but together we can support each other and just crack on! I love Nicole’s unwavering motivation and together with my firm belief that we absolutely can cure BPAN, we make a great team to run Action for BPAN, the UK’s first charity focused fully on improving the lives of those affected by this awful disorder.