Our story through the eyes of our Stevie-Mae:
Hello. My name is Stevie-Mae. I make you feel as bold and as cheery as a sunflower, and I am that warm sunray shining down on you. I am the guardian of my family, and the light that guides their way.
For many years my Momma used to dream of me, before I came into existence. My Dadda didn’t know a love like this existed, until I came to be.
It wasn’t an easy journey to enter this world. My Momma & Dadda had to call on some special people to help us find the way, & in October 2019 we set up camp in Momma’s belly.
Momma & Dadda got really worried in early November when a bleed began and we had to rush to the Doctors, but to their amazement and delight, there WE were, 2 little hearts fluttering away, me and my sister. This was on the 11th of November 2019, exactly 2 years before my new life was to begin.
My sister & I were always up to tricks, and all this mischief in Momma’s belly made her very sick. The Doctor’s called it Hyperemesis Gravidarum. So sick, that she had to spend some time in the hospital, a place that we would become familiar with in time. But she was incredible, every day, she pushed through and did everything she could to protect us, to nourish us, with every act done in love. & Dadda was the hero that held us together through it all.
Whilst we were growing, a pandemic took over the world – Coronavirus. We were going to be born in a time when sickness was spreading through the land. But we had special wings, filled with a message of hope, faith and love amongst the chaos and despair, we were like little rainbows to add some brightness everywhere.
We grew, and we grew, and we GREW, and by 32 weeks our home expanded to a round ball with a 114cm circumference! But now Momma’s body was taking more strain and the Doctor’s called this Preeclampsia, and this meant all 3 of our lives were at risk. So at 33 weeks, on the 29th of May 2020, we burst into this world. I lead the way, at 01:18pm, weighing 1.96kg, measuring 37cm. Following was my best friend and sister, Lily-Jean, weighing 2kg and measuring 40cm. Our parents were blown away by our beauty.
After 10 days of being in hospital we were allowed to come home. This new world would become a refuge of love, and the place of our pranks.
The next few months were mayhem, what a wild time. So many new things, so much discovery, so much developing. But, at 6 weeks old I started trying to tell my Momma that something wasn’t right, and as much as I tried, I was too small to make the message understood. Momma tried, and she held me for many hours that turned into days that turned into weeks that turned into months, whilst I cried. My refuge of love, my Momma & Dadda, they always comforted me, and I knew one day we would all understand.
My sister & I were inseparable from always. Life was so much fun with her in it. But then, on our very first Christmas Day together, when we were 7 months old, we became separated for the first time. Something happened to Lily at 2pm & 9pm on that day. We were all very scared. My sister had to go stay at the hospital, during the peak of the 2nd wave of the Covid Pandemic. The Doctors called it a Febrile Seizure, and said it was a side effect of having Covid. My family were extremely confused, nobody at home was sick, nobody we had come into contact with was sick, and everybody tested negative for Covid, except for my sister, and I wasn’t tested.
I was so happy when my sister came home, but shortly after we were re-united I started feeling really strange and showing signs of having a seizure too, but this didn’t last long. This lead my family to believe I also had Covid, and everyone was very anxious and worried.
For the next 2 months we continued to explore and learn more about the world. Having a twin sister was the best thing ever, because you get to share every little discovery and antic with each other. Life was fun! Even though we are not identical twins, we could fool almost anybody!
But on Valentine’s Day 2020 what had happened to my sister happened to me, I had a 10 minute long seizure. It was terrifying. My family was so afraid. But we all held each other close. I knew I had to keep us all together because my sister followed with 2 more even longer seizures on the 18th & 19th of February.
We all went to hospital together and had to have very special tests performed, these are called MRI’s and EEG’s. I didn’t like having these tests done, and was so glad Momma & Dadda never let us go, and always comforted us. The test results came back clear, without any sinister results. My sister & I were diagnosed as Epileptic, and were prescribed anti-epileptic medication. We were told everything was going to be okay… How was I going to let everyone know that this wasn’t the case?
We all tried to continue with life as “normally” as possible, but my Momma was always filled with terror, and I knew the warning signs I gave her early on made her aware that there was more to this story, but I could see she was struggling to understand what the message meant.
On the 7th of May I had my worst seizure yet, Momma administered rescue medication twice and it didn’t work, and by the time I got to the hospital I had already been seizing for 25 minutes. The Doctor said that it was because my medicine dosage had become too low, so this was adjusted for both me and my sister. But then the same thing happened to my sister on the 26th of September, with yet another breakthrough seizure, resulting in further increased dosages of medication.
Shortly after, my sister and I started making strange movements that were difficult to detect, but would not stop or hinder us in any way. Momma and Dadda were not comfortable with what they were seeing. You can imagine how terrifying, confusing, worrying and exhausting all of this had become. It was very hard on Momma & Dadda. They started speaking to the Doctor about it, but were assured it was nothing to be concerned about – I was getting so worried about my sister and my family.
I knew I had to save my sister. I knew that I would continue to shine through her. On the 10th of November 2021 I gave my life to her. They call my death a SUDEP (Sudden Unexpected Death In Epilepsy).
It’s been difficult to watch my family for the last 4 months. They have so much pain, so much hurt, I can see how they ache. But I comfort them every day in the soul of my sister.
When I started telling you this story, I let you know I am the guardian of my family, and the light that guides their way. I am my sister’s keeper, and I have lead Momma & Dadda on the journey of finding the correct diagnosis for the rare disorder that me and my sister have – Dravet Syndrome. Now they start the journey of getting the best help that they can for this uncommon, drug-resistant & refractory epilepsy
To my “baby sister” – I share my all with you, a girl with a head full of magical dreams, a heart full of wonder and hands that will shape the world.
Stevie-Mae Swanepoel 29.05.2020 – 10.11.2021
Our story through the eyes of our Lily-Jean:
Hello. My name is Lily-Jean. My smirk draws you in to win me over and my smile makes your heart expand immeasurably.
I am the warrior in my family, and fearlessly show the way.
Even though the last 4 months have been extremely difficult for me & my family, I give them hope every day, with my playful personality and enthusiasm for life.
I miss my sister terribly, but our special bond lives on, and she so evidently exists in me, our souls holding each other tight.
In the beginning I was experiencing grief regressions whilst I ached for my sister, but I was also suffering with the progression of my Epilepsy, and this was really difficult to explain to anyone. It was such a confusing time – but my sister helped them understand.
All of our hearts were broken, and I felt so terrible as I became more and more unwell, causing Momma & Dadda to worry beyond comprehension. But the weeks kept passing and I kept getting worse. It felt like we were always at the Doctors, but the only thing that changed was that my medication dosages were increasing whilst my seizures continued getting worse.
In the 14th of December 2021 I got Covid and this was very scary for my parents, because any kind of infection or fever can worsen seizures. And that is just what happened, my seizures became more frequent and intense, and we couldn’t get help due to being Covid+. As soon as we had recovered, Momma & Dadda tried to get the assistance we were so desperate for, but it was holiday time, and some doctors were on leave.
One specific doctor has journeyed with us from the very beginning. He is kind, he is attentive, he always goes above and beyond the call of duty when it comes to me and my family – his name is Dr Japie Roos. He is my Doctor Angel.
By the time January 2022 came along and my parents had to go back to work I was having an estimated 500+ seizures a day. Momma & Dadda would desperately try log all the seizures trying to find patterns and triggers, but if they were to do this, they would have no time to play with me, or let me know I was loved. Momma started trying to contact help, and I really wished somebody would help, not just for me, but for my entire family too. My sister shone down on us and guided Momma & Dadda to take me for some very special blood tests, a genetic epilepsy panel, that would be performed in the USA, and I also did my first *EEG for the year – this is the 3rd EEG in my lifetime, and it is the first time where irregular brain activity was recorded. I was started on a new treatment (Epilim), but this treatment only made my seizures worse.
In February 2022 I stopped feeling like me, and everything felt so strange. My memory is very blurry, but I know all the things I loved to do became very difficult… chatting, walking, playing… what was going on, why can’t I move very well? Why aren’t my words forming? Why do I keep falling over? This is when I did my 2nd EEG of the year, and further irregular brain activity was recorded, so I was taken off the new treatment (Epilim), and started another (Phenytoin), but this treatment didn’t make any impact.
By now, Momma & Dadda were doing everything they could, reaching out all over the country for help. Waiting lists were long, and my family went into a state of chronic stress. I felt so bad, I just wanted to be normal and happy again, I didn’t want to feel like this anymore and I wanted to make Momma & Dadda smile.
Their pleas for help finally started being heard. On the 9th of February my genetic test results came back, and the scientists had discovered that I had a SCN1A gene mutation. And along with these results, help finally started coming. On the 11th of February, 4 months and 1 day since my sister passed & 17 months since my first seizure, we finally received my true diagnosis – Dravet Syndrome. An outcome that really upset Momma & Dadda.
The most recent medication that had been prescribed to me (Phenytoin) is a drug that Dravet patients must avoid as it worsens seizures in this Syndrome. I had to be weaned off this ASAP!
Help had started arriving, but so did multiple tonic-clonic seizures, & I was admitted to hospital on the 14th of February due to fears that I would go into status epilepticus.
Whilst we stayed there the doctor’s performed a 48 hour EEG (my 3rd of the year and 5th in my lifetime) to record the activity of my seizures and my brain.
After I left the hospital I started 2 new treatments, Clobazam & Steripentol (a special section 21 drug that Momma & Dadda had to get a special license for). These new drugs were gradually phased in, and even though it took some time, I started showing some improvements, and Momma & Dadda were overjoyed – they said “our little girl is coming back!”.
It’s been a month since the new treatments started and my seizures have reduced to about half of what they were, and I am able to play and laugh again.
My goal is to be seizure free, so my hero, my sister, my Stevie-Mae, can be so proud of me, so that I can share the world with her, a girl with a head full of magical dreams, a heart full of wonder and hands that will shape the world.
This is not the end of my story. It is just the beginning.
Lily-Jean Swanepoel
Dravet Warrior
- An electroencephalogram (EEG) is a recording of brain activity.
- This type of seizure (also called a convulsion) is what most people think of when they hear the word “seizure.” An older term for this type of seizure is “grand mal.” These seizures generally last 1 to 3 minutes. Afterwards, the person may be sleepy, confused, irritable, or depressed. A tonic-clonic seizure that lasts longer than 5 minutes needs immediate medical help.
- A seizure that lasts more than 5 minutes, or three seizures in a row without the person coming to between them, is a dangerous condition. This is called status epilepticus; emergency treatment in a hospital is needed.
- The Section 21 Unit (Orthodox Medicines for Human Use) of the South African Health Products Authority (SAHPRA) processes and evaluates applications from applicants (treating practitioners) for access to unregistered medication within South Africa (SA). The applicant establishes whether there is a need for a certain medicine; if the orthodox medicine for human use is unregistered within South Africa, the applicant will submit a Section 21 application (Orthodox Medicines for Human Use).
Dadda’s story:
How do you know how much you love someone? How do you truly know?
There are two answers. The first is to lose that person from your life forever (and unexpectedly), and the second is for something to threaten the future of that most cherished being that you love.
That’s what happened to me.
When I found out we would be having twin girls in November of 2019 I had no way of truly appreciating the depth of feeling and ferocious protectiveness I would have over them. Let alone the dreams I began to dream for them without hesitation.
I imagined all the joys of my childhood being shared with them as their baseline and planned more.
Meeting the girls on 29 May 2020 in the middle of a pandemic at 1318 and 1321 after almost not being allowed into the hospital was a truly surreal experience. One I will never forget and a privilege I will never take for granted.
The overwhelming feeling I had when I saw their faces, hands, feet, chubby little legs and their incredible smiles that lit up their eyes was “hope”. They gave me a confidence, surety and purpose that I never knew was possible. Through them I was capable of more.
I saw their mother, though tired by our unending routine be turned into their most fierce and brave advocate and protector. She was and is immense.
But my girls had a different path to the one in my head. I could deal with the fact they had epilepsy from 7 months old – because there was a chance we could help them manage it and then grow out of it if we were lucky. But it was safe. They were safe. They would live a normal life with a few tweaks.
On the 10th of November in 2021 that came crashing down. Losing my soul-mate that morning left me without foundation and direction. My heart was shattered and scattered across the stars with no chance of filling the void in my chest and mind. Not because of me – but because of the force of nature that our Little Stevie-Mae Swanepoel was. She was quiet but heard. She was gentle but strong. She led her sister and gave her strength and confidence with a smile and grace that I could never understand. She made me feel like I might actually be able to pull off being a father. Losing her left me feeling I would not be able to be enough to help Lily through what lay ahead and what she would need to get through this.
Seeing Lily-Jean look at photos and kiss them or try and see why the picture wouldn’t accept her offering of her doodoo blankie broke me down more than I could imagine.
But still I had hope and a real understanding that through Stevie’s flame that I now had to nurture in my heart, for Lily, that I would find a way. I, we would find a way to give Lily the best life there was to offer, no matter what. It was going to be okay. Everyone said so.
Until it wasn’t. On recommendation of the post-mortem, we carried out genetic testing on Lily. I naively assumed it would confirm she was fine and what happened to Stevie was a truly tragic, but isolated event. But it wasn’t. It was now the worst outcome we could expect. Dravet Syndrome as a result of a mutation of the SCN1A gene.
The diagnosis was incredibly difficult for me. But what really broke me was the level of dread that the person who gave it to us delivered it with. The level of total defeatism and despair in every word and body-language stripped away what was left of me and for the rest of the weekend I couldn’t look at Lily without breaking down – I had been told that my precious Lily was going to degenerate into a wheel-chair bound, feeding-tube dependent little girl with no hope of turning it around and no plan in place to turn it around. We should just watch and accept the process.
But that didn’t seem right. Not Lily-Jean Swanepoel who’s sister, Stevie-Mae became a martyr so that we would know what we had to deal with. She was too capable, too loving, too strong.
Something wasn’t right.
Through the fierce determination of her mother, and our network of friends and the most incredible Pediatrician, Dr Japie Roos, we have found people and hope.
We know that our journey will not be easy.
We know that each day will be different. We know that each day holds the terror of the worst and more.
We know that the journey to finding what works for Lily-Jean will take time.
We know that along the way we will have to become stronger in ways we never conceived of.
But we know that Stevie’s flame will light the path for us day by day.
And through that, we will fight each day for a Future for Lily, through better treatment, access to better and stronger doctors and specialists, better food, and better care for her daily.
We know that it will take every last drop from us, but we will get Lily the future she deserves.
And in doing that, we hope we can connect with and help other families who don’t or didn’t get access to the right diagnosis early enough, to get their families what they deserve – Hope, and a Future. A life where we and they are able to live with a child that has Dravet Syndrome, and not Dravet Syndrome.
I can do no more than be present with my Lily-Jean every day. See her. Watch her. Appreciate her every movement, smile, and laugh. Hold her when she’s unstable from episodes and give her comfort enough to sleep.
I can and will do no less than be her Dad and give her the life she deserves, one way or another.
I can and will do no less than be the husband by Warrior Wife and mother of my child deserve through this journey.
That is all we can do on the daily on this journey – keep moving forwards and demand nothing less than the best of ourselves and those around so that our little ones have Hope and a Future.
In Memory of my Sunshine, Stevie-Mae, I hope to live a long life that honors her and lifts Lily-Jean up every day.
#NotTodayDravet
Russell John Swanepoel
Daddy & Hero To 2 Dravet Warriors
