#hopeforirisrose Making memories for our Iris-Rose

Hi we are Karen and Shane welcome to our page for our warrior daughter Iris-Rose who has a rare genetic condition called WOREE Syndrome.

A statement from the WWOX Foundation website regarding our Iris-Rose's diagnosis:

Children affected by these syndromes display the following symptoms in varying severity: refractory epilepsy, profound global delay and severe cognitive impairment. Most children with WOREE Syndrome will not live through to adulthood with an average life expectancy of just 4 years. At present there is no cure.

We are hoping to raise funds to help her live out her life happily and comfortably, to keep fighting, to make amazing memories with her and to keep lighting up our lives with her big smiles and amazing character. Iris-Rose also has big brother Calum and big sister Charlotte who love her endlessly.

We will try explain a little about Iris-Rose's diagnosis and her story so far but it is hard as her parents to put into words the devastation that comes with watching her go through what she has in her 2.5 years and since her first diagnosis we have survived in fight mode with little sleep so memories are a little hazy from the beginning of this fight. We will also try explain why we need help to raise much needed funds and what those funds will help towards.

The start of her fight

Iris-Rose had her first seizure on Christmas morning 2020 at exactly 3 months old and what followed this was weeks of admission to try to work out what was going on, certainly not the ideal first Christmas experience we were hoping for. During these admissions she had 3 lumbar punctures, numerous blood tests, MRI scan, x-rays, an EEG and many pokes and prods. We were sent home but were soon back in and got her first diagnosis of epilepsy and started on the first of many medications. She would have 2 weeks where she was stable and then have a week of seizures and followed this pattern for a few months. Her seizures were anything from 30 seconds to the worst at this point an hour long. She would stop breathing a lot during her seizures and so an ambulance would be called, and we can't count how many times we have had to watch her be bagged to start breathing again.

She started to do a movement that to others looked like the startle reflex babies have but we kept mentioning it to whoever would listen and then we discovered a site about West Syndrome / Infantile Spasms that showed spasms that looked exactly like what Iris was doing. We then took her down to A&E and forced people to hear us as it was hard to catch her doing these spasms on camera and an EEG was ordered which then confirmed our worse fears and her new diagnosis of Infantile Spasms/West Syndrome was given.

We were also informed of her high risk of SUDEP, sudden unexpected death in epilepsy, which is just petrifying as a parent and meant at home we have never slept easily since.

Her worst episodes for seizures and spasms were April – May 2021 in which over the course of a couple of weeks they were becoming more and more frequent and lasting longer where nothing was halting the seizures to the point her poor little body was struggling to fight anymore. After days of seizures and one that just wouldn’t stop for over 2 hours, she was then moved from HDU at our local hospital to ICU at another hospital and ventilated to give her body a rest whilst they tried to work out what to do next.

What we were told to expect was the worst news parents can receive there was not much else to offer other than just hoping she pulls through, and she was essentially put into an induced coma and intubated. Luckily this did what we all hoped for and stopped her active seizures and allowed her poor body to rest and after 2 weeks on ICU she was able to breathe on her own and move onto the ward. She had been through so much in these weeks with so many needles in her body, literally head to toe with the worst being a line put in her neck after a few too many failed attempts at her groin of which she still has the scars from that serve as a constant reminder of when we nearly lost her and how much her poor body was put through.

Sadly, the Iris-Rose that could belly laugh, babble Dada and many other sounds, sit, cuddle and hold a spoon was gone, the seizures and all she had gone through had taken its toll on her. She had no body tone and was like a little noodle in our arms. She could no longer focus and we believed her to have lost her vision (though slowly that improved) and she was now at the development age of a new born at the age of 7 months.

The devastating answer to WHY

From the beginning of Iris-Rose’s journey with epilepsy we have tried to find out why she was suffering with all that she was and we got our consultant at our local hospital to perform a genetic blood panel looking into the causes for her epilepsy. They did a basic panel which came back negative months later (thanks Covid for delaying results) but we then through our studies online and seeing other sufferers of epilepsy asked about more in-depth tests that others were having. We were told by our local consultant there were no more tests needed for her, an email that just crushed us as we knew we deserved more testing for our baby girl. So, every appointment and communication we pushed for more testing asking to be referred to a geneticist team like so many other children with similar stories to Iris-Rose had been given and finally after nearly a year of asking we were referred to the Genetics Team in Nottingham.

On July 28th 2022 we got a call from the genetic team that dashed all the hope we had been building up. She has a very rare genetic condition that is known as WOREE Syndrome. Most children with WOREE Syndrome will not live through to adulthood with an average life expectancy of just 4 years. At present there is no cure. After all the time of chasing it only took them a couple of weeks to discover what was causing our baby so many problems. This was the worst phone call we had ever received.

Her condition as they say has no cure, there is no magic brain surgery, no cure all medicine and no way of knowing what path she may follow. We have still not processed this information 8 months on. Initially we were angry that we had to fight so hard to even get the test to know what her condition was and what her life would look like, ultimately, we felt and still feel at times robbed of a year of her life and the things we would have done differently had we known time was to be limited. But we still have hope and absolute faith in our wee fighter to keep on proving statistics wrong. There is some hope in the form of gene therapy but this is in its infancy but should there be a breakthrough we will do all we can to get our girl on any trials and we are also always on the lookout for a consultant who actually has a grasp on this condition whatever country they may be in.

Fighting on

Whilst she has been fighting against the absolute evil that is epilepsy in all its forms, she has learned to army crawl and roll which is just such a big achievement for her. She has an NG tube but is now eating mushy foods orally so we will keep working towards getting her tube free one day. She is so rarely upset and just smiles and reaches out to her favourites to bring them in for her famous Iris-Rose snuggles. From her grandparents to her amazing physio and all the nurses she has met from the very beginning of her journey they just always want Iris-Rose cuddles and adore to see her. The nurses on her wards and in A&E would fight over looking after her as she is just such a joy to be around no matter what she is going through.

She has started a toddler group session so for an hour a week we get to take her to just enjoy being a 2.5 year old at a nursery/school we one day hope she can attend if we can ever relax enough to allow her out of our sight. She recently produced easter artwork at this group that we have proudly put on our fridge never thinking this would be something we would experience. She is nonverbal but certainly has ways to communicate her likes and dislikes mainly with her eyes facial expressions and eyebrow raises, her side eye being our favourite one.

She adores her big brother and sister and loves playing with them when they come back from school or being out. She loves Mickey Mouse Clubhouse and Peppa Pig though mostly her attention is drawn to the jingles and music from them. She loves anything musical and theme tunes to certain programmes make her head turn no matter what she is doing. She works hard at her physio sessions and is getting better at standing up supported for longer periods. She loves the water and we are hoping to get something in the garden to help her experience more than just her baths as public swimming has rarely been an option due to her weakened immune system from steroids over the past 2 years.

She is still having daily seizures and every bad patch of these seizures causes her to lose skills she has worked hard to learn but thankfully some skills are sticking, or she gains them back quicker after a bad patch proving just how hard she is fighting to stay with us and experience as much of life as she can.

She is just such a joy and there is not a person who meets her who doesn’t see just how brilliant she really is, she literally lights up the rooms she enters with her smiles and her big beautiful green eyes.

The help we need

Currently Iris-Rose has one NHS funded seat which helps with her eating and holding her safely should we need to nip out the room but this chair is not all that comfy and she can only sit in it so long before that discomfort becomes apparent so spends a lot of time on the floor with us or in our arms on the sofa which is becoming slightly problematic as she is thankfully growing.

The NHS will only fund one seat and so we need help to enable her to have some actual comfort in her life that is also safe for her. As she keeps growing we will need more and more equipment and a lot of it the NHS just don’t fund and as we have found out on this journey anything under the label disability or sensory comes with a huge price tag that we just cannot afford on our own. Here are a couple of examples of what we would use any funds kindly donated for:

She was given an NHS wheelchair but sadly this does not come with essentials like a hood or rain cover so we need to fund these. Awaiting quote estimate £250 for both.

She needs a specialised car seat to help support her head and neck, especially during seizures to keep her safe and her airway protected until we find somewhere safe to pull over to help her. Quoted: £3435.

We need seating for her to feed her and have her comfortable for when we go to visit family and friends and allows her to finally sit in a swing without having to be pinned by clothing or blankets. Quoted: £475

She needs a seat that is supportive but safe that she can finally just relax in without discomfort and support her when she seizes. Quoted: £1235.

For help with phsyio we find using water really helps and we are hoping to get a spa pool for the garden. Quoted: £790

We are also seeking out private therapies that have proved helpful for other children. Currently Iris-Rose goes to her brilliant NHS physio once a month but we need more for her but private costs around £80 a session and so your funds will help us get her the support she needs to hopefully gain new skills.

We have recently been told about a piece of equipment called an Upsee. As we are seeing her push herself through physio sessions and exercises at home we are starting to see her mimic a walk when we support her underarms so having this to fully support her and allow her to stand up tall with those around her would just be absolutely amazing for her and a hopeful step towards one day taking some steps herself. Estimated cost £385

Supporting Iris-Rose from a financial view will always be difficult for as long as we are lucky enough to have her, due to the expensive equipment she needs and will need which we will do all we can as a family to get these for her but sometimes this just is not feasible so we are asking for any help we can get.

We have one part-time wage coming in as looking after our wee fighter takes a lot of work from us and as she is up a lot at night and has numerous seizures in her sleep, sleep is not something that comes all that easily in the household. Though even if we were both working full time the cost of equipment just to give our daughter some basic level of comfort and experience some normality would still be unachievable for us.

We keep hoping to do some fundraising events ourselves but due to some health concerns of our own and finding the time when we dedicate so much time, care and attention to our little warrior and our two other little hero's it has been impossible so far but hopefully something we can do very soon.

Sorry, this is so long winded we had no idea how to ask for help, especially from strangers but people have been suggesting we try this for a while now and rather than just put a list of what we need help with we wanted to introduce Iris-Rose and share a little of her story.

No one ever wants to hear that their baby has only so many years to live. From the moment you know of their life you picture a future and dream of things for them and start planning for them to be around forever not to be taken from you when they have barely lived life.

We don’t really do much as a family and by getting help with this equipment we will be able to get out and make some great memories with our beautiful girl and our amazing other children and family. We know times are hard for most people but any little amount will help us and we will be so very thankful. Memories created as a family are just so important to us and being able to take Iris-Rose places not just her home or hospitals and create memories for her brother and sister to hold on to is all we hope for.

Thank you so much for reading about our beautiful Iris-Rose.