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This week for #Warrioroftheweek we have the delightful Flo ( We just love the Beer goggles Florence ! )

Florence will be 4 in Nov, born premature at 32 weeks she thrived in neonatal & was home 2 weeks later.

Slow to hit milestones I assumed it was because of her being premature but had no other concerns.

However at 16 months old I recall a conversation with another school mum & I said I can’t put my finger on what’s the matter but Flo is sleeping all the time & it doesn’t seem right, less than two weeks later whilst my husband was away I noticed an unusual shrug, very subtle eye deviation followed by an absence, it then happened in front of her nana who agreed it didn’t look right. These episodes increased quickly in clusters.

Straight away I just knew it was a seizure I was convinced, Google to the rescue I started to put in her symptoms & watch videos, I was certain they were absences, this next day was a bank holiday so I made a gp apt for the Tuesday. The gp agreed they look suspicious & said she would refer me to our paediatric rapid referral at our local hospital & it could take a couple of weeks.

The next day the clusters were happening all the time so I decided to take her to our local a&e, fast tracked through to the kids unit an epilepsy specialist (our now consultant) was on the ward, armed with lots of footage he was quick to see us & said he thought they were myoclonic seizures but couldn’t rule out another epilepsy but being 16 months old that Flo was out of the typical age bracket for it.

We were admitted then sent over to a fantastic children’s hospital in Liverpool Alder Hey, Flo had an EEG & we were discharged, we hadn’t got far & her Consultant rang to say the EEG was chaotic with hypsarrthmia & to go the hospital the next day & talk about medication & diagnosis.

Florence started on Prednisolone that day, with the intention of adding in vigabatrin if needed. Armed with appointments & a passport access to the children’s unit we were totally unaware of the horrendous months ahead.

The steroids weren’t controlling the spasms & then Florence ended up with chicken pox aware of the danger being immunosuppressed she was admitted again & given IV acyclovir, our consultant also decided to add in the Vigabatrin.

We were discharged after the last acyclovir was given & she seemed ok it was explained that the steroids can dampen the virus which would explain her only having a few spots.

We were living with my mother in law & waiting for our new house to be built luckily close to the hospital as it became very apparent she wasn’t right, randomly tapping thin air with her right hand/finger & unable to stand/walk I rushed her back to hospital, her pupils were hugely dilated & up to the far right.

The hospital couldn’t do MRIs on children so it was decided to do a CT scan, the Dr on duty that night came in to explain they had sent the CT to alder hey & the neuro surgeons had agreed Florence had a bleed on her brain & that they wanted her over in Liverpool to takeover her care.

We were transferred the next morning first thing, the next few days were like an eternity Florence went into non convulsive status & reverted back to being like a newborn, she had a lumbar puncture which showed the chicken pox had travelled in her spinal fluid, the MRI showed a focal cortical dysplasia in her left frontal lobe & possible slight bleed round the rim of it, the neurologists decided to wean the preds & vigabatrin & add in keppra & she responded positively but slowly.

From there Flo went on to have Focal seizures, myoclonics & absences adding in clobazam helped although she didn’t remain on it for long due to an adverse reaction.

Fast forward to now Florence is doing great physically, she’s still delayed in respect to her speech & understanding and has quite a few quirky traits. She still suffers with absences & complex partials & we are under a consultant at Manchester children’s to see if epilepsy surgery might be an option in the future, if needed.

We’ve been through some terrible times & im not gonna lie I worried for her future given the prognosis but she’s doing great & with supportive family & friends & our support group we’ve got through those times so always have HOPE!!!

The picture was taken during her first VEEG over in Manchester Dec 2015 in her beer goggles & its one of my faves 👌🏻

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How have we got to #Warrioroftheweek No:10 already ? Thank you to Mum Jaqueline for sharing Joshua’s story.

This week we would like to Introduce you to the very handsome and smiley Joshua.

So here goes… this is my son’s journey so far. Joshua was born as a healthy, happy, beautiful and perfect baby Feb 1st 2013. He progressed well and was doing so wonderful! It was when Joshua reached 7 months that I noticed him having spasms. I didn’t know what it was and asked my dad if he thought it was something to worry about. Soon after (what felt like a matter of days) my perfect boy lost head control, couldn’t eat solids anymore and any milestones he had reached were now gone. He acted as though he couldn’t see.. this was very worrying for us. I took him to the health visitor who took me straight in the GP and they did a referral to have Joshua’s eyes tested. I couldn’t wait. I walked into Morefields eye children’s hospital. We had the electrodiagnostic testing done over and over again. For weeks and weeks. No one could tell me what was going on. Fast forward three weeks….I had Joshua on the floor having some tummy time and his spasms came quick and fast. My dad walked in and instantly said call an ambulance. We were taken to a and e and admitted that day. Joshua was observed and the doctor was certain it was IS. We were sent to have an MRI and then transported to gosh. Joshua had a huge perinatal bleed. This was the cause of his spasms and also his CVI. It was devastating. We were told to prepare for the worst. G tube, surgery and filled with so much info and med plans we weren’t even ready for. I worked so hard with Joshua and he worked so hard. We were on the ICISS trial and he did amazing ! He has had no spasms since Oct 2013 and started to gain in his development. He’s now 4. The apple of my eye, my pride and joy and my hero. He takes everything in his stride and i just feel everything he does is like magic. He goes to a specialised school but is doing amazingly well! He deserves to be a hero of the week. He still has his eeg’s, still is on meds and still takes everything in his stride.

He’s a kid that’s beyond amazing to me !

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This week’s #WarrioroftheWeek no: 9 is the beautiful Maia who is also a birthday girl this week. Happy 2nd Birthday Maia, from all of your UKIST Mama’s and your purple army friends !

I’d like to introduce you to my beautiful Maia.  She is my much longed for 3rd baby.  She was born at 39 weeks by elective c-section and it was a lovely, complication free birth.  From day 1 she was such a content, happy little girl and everyone who met her loved her.

At 5 months old, I noticed her doing some strange ‘jack-knife’ type movements on waking from her nap.  I thought this was strange and took her to the doctor, who told me that she may have a bit of a virus and a tummy ache, and to monitor her.  A few days later, I realised she wasn’t really smiling at me or making eye contact and this worried me a lot, along with the strange movements that were still happening.  I took her back to the GP, armed with a few videos that I had managed to catch of these episodes, and as it happened, she woke from a nap as we went into the doctor’s office and had a cluster in front of her.  The doctor immediately said that she thought that this could be Infantile Spasms and put a call in to the Paediatric Ward at the Royal United Hospital in Bath.  We were on the ward half an hour later, where we had an EEG within the next 2 hours.  The doctors confirmed that night that it was indeed Infantile Spasms and the hypsarrithmia pattern was present on her EEG.

I just switched to autopilot at that moment.  I don’t think I fully registered what was happening when this team of doctors started their sentence with “I am very sorry….’

No way.  My baby was going to be ok.  I wouldn’t accept what they were saying, that she may never walk or talk or develop.  It has actually taken a course of Cognitive Therapy to fully realise what we have been through as a family.  I highly recommend this therapy as a way to come to terms with this diagnosis – don’t understimate the effect it can have on you and your family.  We moved house very quickly after her diagnosis to be close to family support so our whole lives changed and my older 2 children moved schools.  It was a lot to cope with.

Maia was started on Prednisolone that very evening.  Although I knew that it was necessary, it was incredibly hard watching her go through the harsh steroid treatment.  She ballooned in weight, didn’t sleep for more than 15 minutes at a time and was ravenous as well as being immune compromised.  I breastfed her throughout and still don’t know how we kept going. We did have to add in some solid food just to stave off the hunger for her.  Basically, whatever is going to get you through that 6-8 weeks – do it. Whatever makes it easier.  The hardest part of the steroid treatment as a parent is your baby not smiling at all. She also was pretty unresponsive to any pain.  It was heartbreaking.  The first time we saw a smile on the wean, I cried my heart out.  It was like she had come back to me and she was still very much in there.

Maia relapsed during the steroid treatment and we had to add in the drug Vigabatrin (Sabril).  This made her quite floppy, she lost her tone with this drug but I would do it 10 times over if needed as it worked along with the steroid to get control of the spasms.  Be aware that with Vigabatrin, a baby’s suck and swallow can become weak, so it is important to watch out for signs of aspiration.  As she adjusted to the dosage though, her strength came back.

We started to finally see some signs of progression again, and it was so hard to enjoy them for fear of it all happening again.  When our wonderful neuro decided to wean the Vigabatrin after just 3 months (on a slow 10 week wean), I was apprehensive, but we did it and with each drop in dosage she did something new.

We decided to pursue genetic testing to see if we could find a reason.  We had already gone through the MRI scan and CGH Microarray which were both clear and I needed answers.  After 1 year her Epilepsy Panel of genes was found to also be all clear and we are now possibly entering into the 100,000 Genome Project.  We have been told not to expect them to find the cause though.  But if they do and if it will help another family somewhere down the line then I would most definitely like to go for it.

As big part of our journey with IS, a positive part has been being involved with the set-up of UKIST.  I am very proud to be on the board of Trustees and am so excited for some of the projects in the pipeline.  During diagnosis, it was a very dark time, so to have a group of UK based parents to reach out to with our newly set up support page is amazing and makes you feel a lot less alone.

Maia is nearly 2 (7th July) and what an amazing 2 year old she is.  She walks, runs, scoots and swims, she speaks and understands English and Italian, she counts, knows her colours, talks in 4 word sentences, sings songs and loves her family very much.  We know how lucky we have been in terms of her outcome, and although we remain watchful, we enjoy her so much.  She is a total joy, such a happy, loving little girl.  I am honoured to be her Mummy.

 

Introducing this week’s #Warrioroftheweek No:8 – With the best smile ever -the gorgeous Eddie !

In some ways we were lucky, or at least forewarned. A large porencephalic cyst was found on the left side of Eddie’s brain in utero at 35 weeks gestation. The initial diagnosis was porencephaly, a rare neurological disorder which can cause a wide range of neurological problems, from minor to severe. But following an MRI in utero it was thought that as the cyst was ‘isolated’ it might not be too damaging. Indeed a local pediatric consultant told us to go home, enjoy the last few weeks of my pregnancy and to be ‘quietly optimistic.’ And in many ways we were, as Eddie did everything he was supposed to do in the first few months. A little later, but he reached his early milestones. As the months passed Eddie was diagnosed with Cortical Vision Impairment, and then Right Hemiplegia. But still at his 6 month review we all felt, well, quietly optimistic! But at 7 months the seizures started. I knew enough to video what I saw and so he was diagnosed within days. But of the 6 professionals who I showed it to, from the health visitor through to three pediatricians, only one was sure it was IS. But except for the health visitor everyone agreed that it was worth checking ‘given the cyst’. We started on vigabatrin but that didn’t work, so a course of prednisilone followed. This too failed. We had expected he would try ACTH next but were told by both our local hospital and local children’s hospital that it was ‘too expensive’ and there was no evidence it would work if prednisilone hadn’t. In the year that followed we sought a second opinion from Great Ormond Street who assessed Eddie for a hemispherectomy (he isn’t suitable), tried three AED’s, all with their own side effects, weaning on and off times etc, and started Eddie on the ketogenic diet. We had two ‘honeymoon’ periods where it looked as though he was responding to the treatments and the seizures decreased, only to increase after a week or so. On average Eddie would have around 7 clusters in a 24 hour period, he was also diagnosed with myoclonic jerks.

Once we reached the one year anniversary of the seizures starting I think something broke in both of us, and we decided to try CBD although it was a terrifying decision to make. We value the support of the team around Eddie and hated going it alone. And although we saw an improvement in his awareness and mood almost immediately the seizures remained. We started fighting for ACTH again but then, incredibly, the seizures stopped. It’s been 6 weeks now since we last saw a cluster! His last EEG just before the seizures stopped showed modified hypsarrhythmia still but it had improved. We are hoping he will have another in a week or so.

Eddie will be 2 in 2 weeks time, there’s no doubt that he is hugely delayed and will likely be affected by the IS throughout his life. Arguably we might have expected this given his underlying neurological issues but we didn’t, we wanted and hoped for an easier, and better outcome for him, but despite it all he has made very slow, and important, developmental gains, he can hold his own drink, feed himself finger food and most recently has started trying to roll again. Since we got the diet ratio right and added the CBD he has been so much happier, and is now a very cuddly, loving, happy boy with a laugh that makes everything better!

 

 

We are happy to introduce #Warrioroftheweek No:7 The delightful Edward.

Our little boy Edward had a tricky delivery. He was back-to-back and was delivered via forceps on 24 October 2015. He started to show signs of stress from a very early age, and we took him to an osteopath who put this down to the forceps / stressed delivery.

At about 5 months of age Edward was starting to do ‘jumps’, which at first we thought were cute, and probably still associated his baby startle reflex. But as the days went on, this startle reflex became a pattern of un-natural jumping movements. His arms would go up, his head would pull down towards his stomach, and his eyeballs would roll up into his head. It looked pretty frightening, to the point at which I told my family he looked epileptic.

They started off as a small cluster of ‘spasms’ – one every few seconds for a period of 1-2 minutes. This ‘cluster’ would happen once every few days at first, but eventually materialised in to multiple clusters every single day.

So naturally, went took him to the doctor, and explained our concerns. In addition to the ‘odd’ spasm movements, Edward was not reaching or grabbing at toys, and at times he was oblivious to what was going on around him – like he could not see. We knew something was very wrong. Unfortunately this doctor reviewed the evidence and told us it looked like ‘normal childhood behaviour’. We knew this didn’t feel right.

A friend of ours is a doctor. Looking at the videos we’d taken, she didn’t know what was wrong with Edward, but she knew it wasn’t ‘normal’. She advised us to go see another doctor, and if they didn’t know, she advised us to ask for a referral…. and that’s exactly what we did.

Despite sharing videos, the second doctor had no idea, so referred us to the hospital. We were initially given an appointment – a number of weeks in the future. But clearly, when the paediatric neurologist read our file notes, he suspected infantile spasms and called us in immediately.

That same day our paediatric neurologist referred us for an immediate EEG, MRI, lumbar puncture and many other blood tests to understand what was going on.

With the combination of hypsarrhythmia (brain wave patterns), infantile spasms and development delay, Edward was easily diagnosed with West Syndrome and started treatment immediately.

Ed went on to sabril / vigabatrin on the 8 June 2016. We started at 900mg sabril / vigabatrin per day (weaned at the end of Jan 2017) and 40mg prenisolone per day (weaned after 5 weeks). He responded very well to treatment – within 24 hours the spasms had stopped.

Edward’s had numerous tests to find a cause of his Infantile Spasms, but nothing has been found – Chromosomes clear and 72 gene panel test (ie. known causes of epilepsy and development delay) clear.

To our surprise, and against everything you read on google, Edward is now walking, socialising and starting to say words. He’s had a physio and portage assessment and has been signed off from both: and we are currently awaiting a speech assessment. We cannot believe how great he is doing.

I know we might not be at the end of our journey, but I trust this gives hope to many more little warriors 💜💜💜much love to you all, and everyone who has helped us along the way 😘

 

Here we have our #Warrioroftheweek No:6 – The gorgeous Travis.

Travis was born full term with no problems in pregnancy . When he was born the umbilical cord was wrapped around his neck and arm twice and it took 49 minutes to revive him. I was told he had HIE ( Hypoxia Ischemic Encephalopathy – damage caused by lack of blood and oxygen to the brain) and we were told he was unlikely to make it to a week old. He spent 38 days in the special care baby unit where he had 3 seizures. By 3 months he had developed Infantile Spasms which were rapidly controlled with medication . Travis has 16 diagnosis in total due to the damage to his brain, the main one being dystonic quad cerebral palsy.

6 years down the line with no seizures at all, it hit us with a bang last year when he had a 3 hour seizure they couldn’t stop, which resulted with him being ventilated for 3 days . At 6 years 9 months now , he has, after various tests been diagnosed with epileptic spasms (a very similar type of epilepsy to IS but affecting older children) and  is now on 4 different medications which are unfortunately currently not helping so far. Even though Travis has been through so much in his life he is always happy and smiley and continues to amaze us all of the time .

Unfortunately Travis’ dad and I split up as he couldn’t cope with everything, the Infantile Spasms diagnosis pushed us over the edge and our relationship ended. It has been a long, hard struggle and I would not have coped without the help of some fantastic carers. If you would like to read more about Travis, please visit his blog at www.lifewithtravis.blogspot.co.uk   

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Introducing our beautiful #Warrioroftheweek No:5 Tiahna 😍

Our daughter Tiahna was just 6 weeks old when she had her first noticable seizure, me and her dad rushed to A&E, terrified at what was happening to our little girl. Tiahna was kept in hospital and had an EEG, lumbar puncture and blood tests. At this point her EEG was clear and she was diagnosed with myoclonic epilepsy and put on Epilim. We struggled to control the seizures and when she was 5 months old the seizures changed to infantile spasms which I had luckily already read up on, so we took her straight to the hospital and within an hour she had another EEG which then showed hypsarrhythmia. She was started on prednisolone, this didnt stop the spasms so we moved onto vigabatrin, followed by a cocktail of other drugs which all failed to stop the spasms. Just before Tiahna’s first birthday we got a diagnosis of CDKL5 disorder after the epilepsy gene panel testing, this explained the hard to control seizures. Tiahna is now 2, she will be 3 in august and is very developmentally delayed. She cannot sit unaided and has poor head control, she is also tube fed and her seizures are still uncontrolled but despite all this Tiahna is a happy little girl who enjoys school and she is our little superstar 😀

Tiahna

 

Introducing Jacob our #Warrioroftheweek no:4 .

Jacob started having spasms from about 4/5 months old.
He suffered very badly with reflux to the point he couldn’t do tummy time or even lay flat on the floor without vomiting, even hours after milk. He was on gaviscon but we had tried every reflux medicine and nothing would really work.
Jacob started to lift both arms up and repeatedly, I thought it was strange. It happened once or twice and I asked the health visitors when I got him weighed, I asked our speech and language therapist and I even asked Drs… ‘reflux’ was the response I got from every single person! Obviously being a first time mum I listened to the professionals, I had never seen anything like what he was doing before so I just assumed they knew what they were talking about.

The movements became more frequent, they turned into jerks, he would wake up in the night and have them. He would sleep for hours after having them and pretty much sleep all day. I started to see him regress in his development, he wouldn’t play with toys, he couldn’t use his hands, he wasn’t interested in anything, he would never interact with anyone. I knew that something wasn’t right, I had an idea to video Jacob doing these movements on my phone and took them to our paediatrician and straight away she knew.
We had a EEG within a few days and it was confirmed and he was diagnosed with Infantile Spasms/ West Syndrome.
We hadn’t heard of this condition, what it meant, or what was going to happen, we only had google and that scared us to death.
Jacob was put on a high dose of prednisolone and vigabatrin and within 24 hours the seizures had stopped ***touch wood*** we have been seizure free since the 23rd January 2016! He got weaned of the vigabatrin September 2016 and he is not on any medication for seizure control.

Since that day we have worked so hard with Jacob to help him develop and progress and I’m so happy to say he is doing AMAZING!! He is nearly 2 and still has a severe developmental delay but he is doing things I never thought was possible. He is a very cheeky monkey and his personality is so funny and loving! He makes us all laugh and loves giving kisses.
I pray everyday for the seizures to stay away and I will never not be able to worry every time he makes a sudden movement but we will not let IS win!! Jacob is too strong and too determined!!

Jacob

 

 

Introducing our #Warrioroftheweek NO: 3 – The beautiful Ayla.

This is my little IS warrior Ayla June, she is literally the light of my life

Going back to Xmas 2016, Ayla was very whingey and withdrawn and I knew straightaway something wasn’t right because she is the happiest girl ever. We were down south at the time visiting family and Ayla was only happy when she was sleeping – when she was awake she just moaned constantly. It was getting too much hard work trying to keep her in a good mood so we cut our holiday short. The morning after we got home Ayla was in her high chair when she had her 1st spasm, although very subtle I wasn’t happy with what I saw and got her an emergency appointment at the doctors who said she had reflux and prescribed antacids. Later that day Ayla did it a few more times so I called 111. We ended up waiting for 7 hours in our local hospital so I decided to take matters into my own hands and went down to alder hey who saw Ayla in 2 minutes, she had an eeg later that day which confirmed what I already knew. So far we’ve had a clear MRI, clear lumber and currently awaiting genetics. It took 2 months to get Aylas spasms under control and it was only when we added pred to the sabril that we were seizure free

Fast forward to now and she is off pred and we are currently weaning the sabril at (100mg per week) I now pray that these spasms will stay away.

Our little girl is 11 months on 25th may and is still not crawling or trying to walk but she does say “dada” and “hiya”.

She is the best thing that’s ever happened to me and has taught me alot in the short time she’s been here – she’s amazing .

Ayla

 

It’s Time for #Warrioroftheweek . Our 2 nd little warrior is the gorgeous Clay. Here Kirsteen tells his story.
Hi I would like to introduce our wee IS Warrior Clay.
Clay was diagnosed on the 6th March he was 6months old then.
It started with rolling of the eyes and I wasn’t happy and knew something was wrong I took him to the doctor who told me he was ok and it may just be a tired thing I wasn’t happy I took him up the following day and the doctor saw what I was talking about she also thought he was ok but was referring us to the hospital. I couldn’t wait for this referral as my beautiful son took a turn for the worse and took about 10 seizures which his whole body jacked knifed he was very distressed we went straight to A&E where Clay was admitted and within 24 hrs he had an EEG and was diagnosed with Infantile Spasms.
He was put on a high dose of Prednisolone which within a week stopped the spasms. But unfortunately he relapsed in the Easter holidays when we were in the middle of weaning another urgent EEG confirmed this and he was put on vigabatrin /Sabril which seems to be working (touchwood).
Clay is now 9 months and is the happiest craziest loveliest wee boy he is doing everything he should developmentally. Clay is still on the vigabatrin but we haven’t had any seizures since the 18th April ( the date he relapsed). Xxx

Clay

 

We would like to introduce our very first instalment of #Warrioroftheweek . We will be posting a different story every week and would like to thank everyone for sharing their stories with us all. We hope today you enjoy reading all about Josh.
Our twins Josh and Ava were born at 35 weeks and they were our third round of IVF. Very much wished for and doubly loved. We always called Josh ‘highly strung’ as he took longer to settle than Ava, and suffered terribly with colic. At six months he started to do this little movement, as if he had a bad tummy. We went to the hospital but they said it was viral, and his GP said it was constipation! We were actually on holiday ( Italy) when I realised something serious was happening. His movements got sharper- the arms and head nod and his eyes rolled. We’d also lost ‘our Joshie’- he’d stopped smiling and laughing and that was just not him. We flew home the next day and went to A&E. he was diagnosed with IS after 24 hrs. He was put on a very high dose of prednisolone and thank goodness after 36 hrs his seizures had stopped. He had a compromised immune system after his treatment and ended up having to be on Hydrocortisone four times a day for 6 months but he’s now producing enough himself! So med free. He is showing no developmental delays at the moment. He walked at 12 months and has enough language that everyone is happy with so far. He is 11 months seizure free, and I am thankful for each and every seizure free day.