Our July warrior Rosa

Rosa was born in July 2019 with no complications. She hit all her milestones and was a super
happy settled baby. In February 2020 at about 5 months old she developed what I thought then
was an eye twitch when she was just about to fall asleep or on awakening. Over the next three
weeks Rosa began to sleep more and was less interested in her toys. I took her to our GP three
times showing videos I took of her twitch and explained she was more introverted and super
tired. On the third visit they referred Rosa to a neurologist in Galway University Hospital to rule
out anything neurology related. I had a couple of weeks to wait for her appointment.
A couple days before her appointment I was putting her down for a nap and I noticed her
hands were moving ever so slightly as her eye twitched. I remember thinking it was so strange
and trying not worry as the GPs were happy she was a healthy thriving baby. The following day
as her eye twitched her hands were moving upwards much more obviously. I knew something was wrong, her face seemed to have changed. I recorded her and took Rosa back to the GP who told me to head straight to A&E.

Myself and Rosa waited in A&E for a couple of hours and I remember feeling so silly as she was
drinking, laughing, making friends and copying noises. I thought there couldn’t possibly be
anything wrong and I was super worried that I was wasting hospital time. Rosa’s name was
eventually called and as I was explaining to the doctor she had her first full on spasm cluster lasting
ten minutes. The event was very typical of Infantile spasms with her body crunching, arms
moving upwards. Her eye twitched throughout the seizure. The doctor admitted her
immediately. He told me there was something very wrong, that I would see a neurologist in the
morning and Rosa would go through a series of tests. I went into shock. I asked the doctor if my
baby girl was dying.

Once we got to the ward the support from the moment we got there got me through. The
nurses showed me so much kindness. They hugged me during the hard nights, allowed me to
have breaks and gently reminded me to eat.
The following morning I met Professor Nicky Allen. Professor Allen explained Rosa needed an
EEG and MRI. These tests confirmed hypsarrhythmia was present in the EEG recording and the
MRI showed a shadow on the right side of Rosa’s brain. Rosa’s spasms were occurring every
couple of hours during the time of the tests. On the second day of Rosa’s hospital stay,
Professor Allen rang me and confirmed a diagnosis of Infantile Spasms. He explained her
previous eye twitches previously were focal seizures that developed into spasms and the
shadow shown on MRI was most likely cortical dysplasia and this was the cause of IS.
Treatment with Vigabatrin was started immediately.

At a meeting the following morning, Professor Allen explained that Rosa may not walk or talk
and the future of how she would develop was very much wait and see. Professor Allen went through
mine and Rosa’s dads family medical history. I understood how dangerous these spasms were
and they had to be stopped. Professor Allen told me to contact him with concerns about Rosa.
He informed me about carers allowance and UKIST. Life was about to about to change. He
referred Rosa to early intervention services. He was so kind and professional and he was able to give me answers to nearly everything I was worried about. He is an amazing man and doctor
who truly cares. I’m grateful Rosa is in his care.
Rosa really enjoyed her stay in hospital despite the seizures, she was very playful and happy.

At this stage the pandemic was looming, I left work immediately only having returned a few
weeks before from maternity leave. Vigabatrin did not control Rosa’s spasms so steroids were
introduced as the first lockdown was announced. It was a hard time for me, as a single parent I
was isolating Rosa for her safety and I was very scared. UKIST was my saviour during this time. I
could reach out and get advice or just talk to other parents going through the same situation.
Everyone in our very special group is supportive. We carry each other through hard times and
give advice that only a parent who has walked this journey would have. UKIST is the most
valuable resource I have to this day.

Steroids were a very hard time for both of us. Rosa was very uncomfortable and unhappy but
steroids worked. Hypsarrhythmia was cleared on her EEG report after her course was finished
in May 2020. I think it definitely took a few months for the diagnosis to hit me and to fully
comprehend what was actually happening. Rosa was and is my top priority so I put everything I
had into her recovery. Rosa’s developmental progress spiralled backwards. It was truly
heart-breaking to see her lose skills and sounds as the effects of seizures and medications took
their toll.

Rosa’s spasms ceased and a new life began for us. She started her early intervention
appointments and we became part of the family in Galway Enable Ireland Centre – another life line
for us with truly amazing people and support. Rosa’s journey with focal epilepsy began at this
time too so she started on keppra when she was one year old to help control her focal seizures.
She remained on Vigabatrin. Professor Allen felt due to the nature of her diagnosis a longer
time on Vigabatrin was safer for Rosa. A few months later trileptal was also introduced. Rosa’s
epilepsy is refractory meaning it is drug resistant. This is common with people that show cortical
dysplasia. Myself and Rosa’s dad have given blood for genetic testing. The doctors believe
Rosa has a genetic disorder but it can take a few years to confirm with testing.

In 2021 Rosa had a long EEG recording in Temple street hospital. It showed her brain waves
are slower on right side where the cortical dysplasia is seen. This pointed to the possibility of an
intellectual disability. Rosa hated that hospital stay very much. A few days after we came home
she took her first steps and within a few weeks she was walking at 19 months. Developmental progress was slow back then but it was there. Rosa progressed elegantly in her
own way and style despite receiving more diagnoses of hypermobility and sleep disorder, enjoyed her early intervention therapies and generally enjoyed life. Her love of the world
and people was really coming online – she began to light up rooms! Rosa is a nature lover, she
loves the sea, sky and explores everything to such great detail and depth. I think this is
remarkable and a true testament to Rosa as she remains on so much medication.

I began to worry about school and the future when Rosa was two. I could see her suffer in some
situations. Rosa had her anxieties. I sought help from developmental doctor Orla Flanagan. On
their first meeting in December 2021 Dr Flanagan diagnosed Rosa with autism.
This was a hard time. Rosa was diagnosed so young at two and a half. I thought our whole
world would have to change. Dr Flanagan told me I was an expert on autism without even
realizing it and it turned out she was right. Our world was perfect as it was. Rosa is beautifully
autistic and the autism diagnosis opened up doors to more supports. This summer Rosa will be
assessed for Intellectual Disability.
We had tried to wean Vigabatrin several times over two years and it was always paused as
more focal seizures would break through. We finally weaned in March 2022 and celebrated by
adopting a kitten for Rosa.
Ten days after her last dose of Vigabatrin Rosa relapsed with spasms. Treatment of Epilim
started immediately and an EEG was booked. This was heart wrenching for me. Our whole
world came crashing down and our easy going carefree life was out the window. The spasms
presented the same way as before. The seizures were frequent, occurring a few times
throughout day and night. Rosa went on strike and wouldn’t take medication. I think hospital visits
being poked and prodded had her fed up and she learnt how to say a firm no. Good for Rosa,
bad for epilepsy. However through those dark couple of months things got easier. Her EEG
report confirmed no hypsarrhythmia was present so spasms were referred to as epileptic
spasms and thankfully not as dangerous as IS. Rosa went back on Vigabatrin and spasms
turned to nocturnal spasms occurring every night for a year. It was a sleepless year. We tried
and failed a few more medications.

Rosa started preschool in her supported school for children with disabilities last September and is thriving. Up until this point Rosa has been non verbal and now she is communicating
through lamh (a sign language). Her fine motor skills are excelling. I can see her problem
solving and happily playing. Rosa is exercising her will and showing her determination. Nothing
is holding her back from what she wants. Rosa loves her life.
We are now 16 months into Rosa’s relapse journey. Spasms have evolved again, from
nocturnal back to day time spasms. Rosa is also trying epilim again. She underwent another
long EEG in February 2023 and this time we’ve learnt a lot. We will have a meeting with another
neurologist soon. Her team Professor Allen and Yvonne are doing a wonderful job taking
care of my girl. We have received respite care from Jack and Jill and Brothers of charity and
help is only a phone call away from both these organizations. Rosa and I are blessed and

I hope our story helps any parent going through any stage of Infantile Spams journey. It’s an
unknown road and no two IS journeys look the same. I was a first time single mother finding
my place in motherhood when Rosa was diagnosed. As time has gone on I’ve grown more
confident and it has tested me to grow in ways I would never have imagined. Today as l am writing this I am truly grateful for how our life has unfolded despite how difficult it may look to outside
eyes looking in.
Rosa has two labels. Epileptic and autistic. Rosa’s labels help her get the support she needs
and very much so deserves. Rosa is a IS warrior. Above all Rosa is beautiful, kind, intelligent,
cheeky, funny and a true alchemist.
Happy 4th Birthday Rosa