The best way to tell Carrera’s story is just to start from the beginning so here goes…
We started seeing what we now know are cluster seizures around October 2017. We celebrated Carrera’s first Christmas and thought the seizures were simply Carrera catching her balance when we put her on her back.
By January they were more frequent. One of Carrera’s cousins, has epilepsy and so we sought advice from his mum, who suggested we record these episodes of what we called the ‘wobbles’. The doctors at Nepean Hospital identified them as seizures and sent us to Westmead Hospital for an EEG. We believed that Carrera had epilepsy and that with medication we would manage it. We had no idea what was to come.
With a 30 second video in hand and EEG results, we met Dr Gupta, who took one look at the video and ordered an MRI. He also took into account Carrera’s failure to thrive. Three days later, Dr Gupta took my mother-in-law, Jacqui, and I into what I now call the “bad room” and explained what the MRI results showed.
We looked at Carrera’s brain scan – it was as though someone had coloured in a large part of the left side and also a smaller part of the right side of her brain in white. Dr Gupta explained that he suspected a mitochondrial disorder called Leigh’s Disease, which was the cause of Carrera’s seizures – on top of that she also had epilepsy. He told us that the mitochondrial disorder was incurable and that Carrera might live to adult maturity or might have a very short life.
I didn’t understand any of it and it felt like someone had taken all the oxygen out of my lungs, I felt sick. I wouldn’t have gotten through this meeting without Jacqui. We then had to wait for Adam (Carrera’s dad) to finish work and get Dr Gupta to explain the diagnosis again. That day broke all of us.
Our journey has since involved Dr Ellaway explaining more about mito and that the next step was to genetically sequence Carrera’s blood to see if they could give us a definitive diagnosis. We were also told that there might not be an answer and the results could take months. We spent a total of three weeks in hospital and went home with medication for the seizures and also a nasogastric (NT) tube as Carrera was becoming too tired to feed with her bottle and stopped eating solids all together.
Once we explained to the rest of our family what Carrera’s diagnosis was, Aunty Leah contacted the Mito Foundation. We received their info pack which contained the wonderful little book that explains mito to kids (A Little Book About Mito). We used it to tell Ruby about what was happening with her little sister. Our entire family was devastated.
As yet we do not have a definitive diagnosis and are under the ‘suspected Leigh’s Disease’ banner. The results from Carrera’s genetic sequencing suggest that there may be indicators of a new gene causing Carrera’s problems. Carrera’s daddy and I are now being sequenced to see whether this gene lies within our DNA. Once again this will be a long process and we may find no answers. This is all so hard to take.
I have lost count of how many hospital visits we have had – at least 20 since our diagnosis just 10 months ago! It’s been hell.
The stays at the hospitals been because Carrera’s NG tube wasn’t working, to epilepsy monitoring and worsening seizures, to what we now call “blue seizures” where Carrera’s body goes limp, her breathing is almost non-existent and she goes blue.
With all that going on, Carrera also celebrated her first birthday in April with a princess party. It was a beautiful day but poor Carrera was so tired she slept through most of it.
Carrera’s condition can change hour to hour! We very rarely see our girl smile or laugh but when she does it’s a huge celebration for us.
Carrera is undergoing physio and speech therapy as she has yet to grow, can’t hold her head up and has limited mobility. She babbles away to us but mostly communicates through her eyes. Carrera has this ability to read people through their eyes and truly looks deep into our souls. I still find it incredible that with what Carrera goes through she does manage a smile. She continues to keep us strong and positive – how can we not be with an example like her.
There isn’t a typical day for Carrera, she is still on four hourly feeds which we try to be at home for and the day really depends on how she is feeling. Carrera and I sleep together and poor daddy sleeps in the spare room. We are very worried that she may have a blue seizure through the night and we wouldn’t be able to hear it if we were in another room.
I like to take Carrera for short walks but these opportunities are very rare. I play peek-a-boo and read stories to her, but mito makes her so sleepy. We mostly have one good day followed by three terrible ones…
I love how she cuddles into me and makes me feel whole, I love how she is so expressive even though she can’t speak. I love how she looked deep into to my eyes when she was first born and made me feel a love I had never felt before. I love her strength and determination. I love how she has brought our family together with the love she gives.
We are truly unsure what her future looks like. We are completely in the dark about it. We don’t know if she will walk, speak or be able to do things like most kids do. Her future is very scary but our family has done everything in its power to be able to give her a better quality of life. We would like Carrera to live life not just exist in it. She is still only young and it makes it very difficult to know what is around the corner.
I want people to understand that with mito, your loved one is going into battle with a little known disorder – and knowledge is power! The reason we are sharing our story is to help other families so they don’t feel alone and helpless – and to build Carrera’s legacy so she isn’t going through this in vain.
I hope Australian scientists will find a cure for our loved ones who are already suffering with this illness. It’s a dream and I know this but it’s a dream my family and I hold onto every day. We refuse to accept that Carrera has come into our lives and this is all she will be known for. Our beautiful little girl is more than just her illnesses. She is a pillar of strength and hope, and she manages to get everyone she meets to fall in love with her. We are all so thankful and privileged to have her in our lives!
The mito community need all the help we can get to give our loved ones hope for the future, especially our youngest members like Carrera who are only babies. We need to come together and help in every way possible.
- Jen and Adam (Carrera’s parents)
October 2018