Eva was a very happy sociable baby. She loved being surrounded by people and was never happier than when people talked to her and made her giggle. She moved through all the baby milestones with ease and we shared her joy as she lifted her head for the first time, rolled, sat up, all the things you would expect. She appeared to be absolutely fine. At nine months we gave her her first baby biscuit. She picked it up and as she put it closer to her mouth her hand started shaking. I remember thinking “that’s odd” but given the last three months of crushed vegetables and pieces of fruit, I assumed she was just really excited. Little did we know that this was the first sign of her condition starting to emerge.
At eleven months she finally started crawling. She was a late crawler which caused a little bit of concern but she was within the normal time frame so we didn’t think much of it. Initially crawling seemed to be a huge effort for Eva. It was almost as though her hands and knees were stuck to the floor and she had to use all her energy to move them forward. However, Eva soon became a very proficient crawler and was charging around quite happily.
On Eva’s first birthday we bought her a ladybird ride-on. She absolutely hated it. Every time we put her on it she screamed the place down. We just assumed she didn’t like ride-ons or didn’t like ladybirds! We had no idea that the fact that her feet couldn’t touch the floor yet meant she didn’t have a point of reference for where her body was in space or that her balance was severely challenged.
In August 2013 we welcomed our son Albie into the world. Eva was eighteen months old and not walking, not even showing signs of starting to walk. That little niggly feeling of “that’s odd” was back but again, she was still within the time frame of normal development so we assumed if she’d been a late crawler she’d also be a late walker. It was another three months before Eva started walking and the day she did was the day those seeds of doubt surrounding her development really started to take hold. Instead of finding her balance and then taking some tentative steps, carrying her body weight through her legs, she would desperately hold onto something and then make a quick dash to where she wanted to go, using her shoulders to determine her direction, before hanging onto something or somebody for dear life. Over the next three months her walking did improve but it was asymmetrical in nature, slow, uncoordinated and unbalanced. We also had growing concerns about the development of her gross and fine motor skills and the tremor which appeared when she tried to do something.
On 12th February 2015, when Eva had just turned three, we met her neurologist for the first time and within minutes he told us that there was a problem but he didn’t know what. He did however suggest it was likely to be quite rare. It was at that very moment that my heart started to break; just a small crack, but the start of a crack which now, every day, gets a little bit bigger.
We were told that the hospital needed to carry out some tests and to do this Eva would need a lumbar puncture and MRI of her brain under general anaesthetic. On 1st April 2015 we carried her down to surgery. Only one of us was allowed to stay with her so I held her hand as they administered the anaesthetic and left her sleeping before joining my husband outside for the agonising wait. Eva was a superstar and we were allowed to take her home that evening. It was such a relief to see her eating pizza and having a story before she went to bed. A normal end to a stressful day.
While we were waiting for the results of these many tests my husband went through an entire list of rare diseases trying to see if Eva’s characteristics fit with any of the descriptions. They didn’t. The only thing that came up was ataxia, a debilitating and cruel condition which affects coordination, balance and speech. It is usually connected to neurological conditions and in most cases is progressive. The crack in my heart started to get just a little bit bigger.
Although there was a growing gap between Eva and her peers she continued to make progress and always kept her sunny disposition and steely determination. Three months later, completely out of the blue, I got a call from the neurologist. They had found a genetic anomaly. They weren’t sure what it meant but they needed to test me and my husband to see if it was hereditary.
On 8th October 2015 we walked into the neurologist’s office and straight away we knew there was a problem. In the room there was a lady sat at the neurologist's desk, a nurse and three medical students. Straight away the neurologist handed over to the lady, a professor of genetics. I remember thinking, “What’s going on? What is going on?” while at the same time trying to focus on every word she was saying. She started by asking some questions about Eva and then giving us a 101 about genetics. About half way through I started to have what I can only describe as an out-of-body experience. I could hear her words but I couldn’t process them any more. It was as though I was looking down on the situation rather than being in it. I was conscious that my husband and I had moved closer together and we were now gripping onto each other. In the end it became too much for me, I breathlessly shouted out “Is she going to be okay? Please can you tell me if she’s going to be okay?” At this point the medical students were quickly removed and we were left with just Eva’s neurologist and geneticist. What we were told next was incomprehensible.
They had discovered a genetic variation in one of Eva’s genes, GRM1, which they believed was causing her difficulties. The variation had not been passed on from us but rather had occurred by chance at the point of conception. The condition had never been seen before; there was no reference to it in any medical literature and there was no one else that was known to have it. This tiny genetic variation was causing Eva to display the symptoms of ataxia. Which led to the ultimate question: “Was her condition progressive?” And the answer: “We don’t know.” If she continued to develop it would suggest it was less likely to be progressive but as they’d never seen it before they just couldn’t give us any answers. So that day we left with no answers, no diagnosis, no prognosis and a huge number of questions. Our little girl had a condition, which had never been seen before and no one knew what the future held.
When your daughter has an incredibly rare neurological condition you’d be amazed at how quickly it becomes part of your family’s life. So it came as a complete shock, one ordinary Thursday afternoon in spring 2018, to receive a phone call from Eva’s geneticist, telling us that there was another problem; a second genetic mutation. Just when I thought my heart couldn’t break any more it finally shattered. We were devastated.
Further genetic testing had identified an additional mutation on a gene called MECP2 which causes a rare neurological condition called Rett Syndrome. As soon as the name was mentioned tears started to pour down my face and my whole world started to crumble: my mum had looked after a little girl with Rett Syndrome. I knew what it was.
Rett Syndrome is a neurodevelopmental condition which affects mainly girls. Seemingly normal toddlers enter a period of regression, start to lose skills and then plateau for the rest of their lives. It has been described as having the symptoms of autism, cerebral palsy, Parkinson’s, epilepsy and anxiety disorder all rolled into one with most children with Rett unable to speak, walk or use their hands. As the regression takes hold these children get locked inside their own bodies, able to understand but unable to communicate.
But Eva was already six years old, well past the toddler stage and although her progress can be very slow, she has always made progress and never regressed. What was going on?
A couple of weeks later we took Eva to see her geneticist and neurologist so they could observe her progress. Eva’s symptoms were not those of typical Rett syndrome which has led her doctors to think that her MECP2 mutation is causing her to have a rare, atypical variant of the condition.
A couple of months down the line and Rett Syndrome is slowly becoming meshed into our everyday life, just as her GRM1 mutation before. With no prognosis our life is still engulfed with uncertainty and there are still heart breaking moments every day as we watch Eva struggle to complete the simplest tasks. Eva’s difficulties with balance and coordination severely affect her mobility, her language disability makes it difficult for her to communicate with her peers and she struggles to process new information. However, Eva continues to make progress and although her developmental delay means there continues to be a gap between her and her peers, she continues to refine old skills and develop new ones. Eva rides horses, dances, swims, scoots, goes trampolining and she absolutely loves craft and cooking. She is always up for a challenge and tackles most things head on.At the moment there is no treatment or cure for Eva’s condition but there is a ray of hope. Research has shown that Rett syndrome is one of the few neurological conditions to demonstrate dramatic symptom reversal in the lab. More research has the potential to find a cure. Until a cure is found, there is nothing we can do or give Eva to remove or even reduce her challenges. We have been catapulted into this extraordinary life and all we can do is support her, love her and treat her like any other child. Eva might be unique, but to us she is just our little girl.