From Despair to Hope

By Stephanie Wood

Emilia is our first and only child. When Emilia was born everyone commented on how alert she was, how happy she was, how she was such an ‘easy’ baby.  She hardly ever cried, she mainly slept well and was a very smiley baby. However, I found motherhood anything but easy; I was in the throws of PND and anxiety but I doubt anyone who wasn’t close to me could tell.

When Emilia was about 8-10 months old, my depression seemed to deepen and I just couldn’t figure out why.  I look back now and can’t believe I didn’t see the reasons why I felt so down. Emilia became really difficult to bottle feed; she would refuse feeds, refuse to suck on the bottle and scream because she was so hungry.  I dreaded every feed.  Weaning was also really challenging.  Emilia just didn’t seem to know how to chew and would swallow even pureed food and then gag or choke and vomit it back up.  The whole time I was thinking, ‘what am I doing wrong?’

At this time, although it wasn’t my main concern (but probably should have been), Emilia didn’t move.  She sat up but only with my assistance and would frequently topple.  She didn’t try and move into other positions and only rolled on her tummy infrequently and never continuously.  By then I could see other babies at our local playgroup crawling, standing and even walking.  Emilia just sat there.  She laughed and played well with her toys (her hand use at this point was really good) and she was even starting to say a couple of words.  I remember talking to a friend whose baby was starting to take steps at 11 months old and expressing my concerns about Emilia.  She said that she hadn’t shown her daughter how to do anything like standing, stepping – she had figured it out all on her own.  ‘Don’t worry’, my friend reassured me, ‘She’ll get there’.  This phrase was re-iterated by well-meaning friends and family but I just had this constant niggle that something wasn’t right.  We continued the way we were and Emilia started nursery just before her first birthday in July 2017.

Emilia loved nursery and still does. It was a couple of weeks after we came back from our holiday in August 2017 that I got a call from the nursery to come in and talk about Emilia.  They had picked up on Emilia’s lack of movement and where concerned about other issues including lack of eye contact which previously had not been a problem with us.  Then, a few days later, Emilia started to dramatically regress.  She shut down, wouldn’t look at us and stopped smiling and laughing and became a completely different child; she was in a world of her own.  She started to wake at 4am and scream and scream for hours at a time.  What was happening to our beautiful, content little girl?

We contacted our health visitor who was amazing and got us an emergency appointment with the GP, who in turn got us an appointment with a Paediatrician for a month later.  A diagnosis of Global Developmental Delay followed.

Everything then just spiralled and, to be honest, is a bit of a blur. With all that I had been already feeling and then Emilia’s regression, I mentally collapsed. I remember breaking down and selfishly saying to Al, my husband. ‘Do you have any idea, what it will be like to have a mentally and physically disabled child? Our lives are over, what’s the point?’ How wrong was I, but you don’t think clearly when something like this happens to you.  You just go through the motions and survival instinct kicks in.  As we had no diagnosis, I constantly battled with my mind, one minute accepting that there was something wrong with Emilia’s development and the next challenging everything the professionals had said to us thus far and trying to diagnose Emilia with less serious issues, even baby depression. I wondered if my depression had somehow rubbed off on her. Ridiculous, I know. I googled and googled till I was exhausted at all prospective diagnosis.

It was during my Google searching during Emilia’s regression that I came across Rett Syndrome.  I read through all the early symptoms and ticked them off one by one in my head.  I called my Mum and asked if she had heard of it.  She said that she had found Rett in her searching too.  Then we were both quiet and nothing more was said about Rett for a while but it sat in the back of my head until genetic testing and diagnosis almost a year later.

Between regression in September 2017 and diagnosis in August 2018 we had many therapists visit Emilia and tests were carried out on her hearing and sight.  I remember when Emilia got her eyes tested and finding out she was long sighted, and wondering when she got her glasses would she start to move.  Of course, she didn’t.  Long sightedness doesn’t stop a baby from developing but that’s how desperate I had become for my baby to get better.

Although Rett Syndrome was always at the back of our heads, Autism was also mentioned by professionals, family and friends.  I just knew Emilia didn’t have Autism. I knew that it was something else. That being said, we threw ourselves into early intervention therapies, mainly paid for by ourselves.  We travelled from our home in the North of Scotland to as far as Glasgow, London and Warrington for assessments and therapy.

We went on a family holiday to Florida in December 2018.  It was during this holiday that Emilia started to come back to us.  She started to smile again, laugh and even babble a little.  She was more alert and started to notice everything around her again.  She started to give us kisses and cuddles.

From then, through diagnosis until now she has made steady progress. Her hand use has gotten worse and she still struggles with mobility.  Emilia is still unable to transition between lying down to sitting and sitting to crawling or standing. She is able to hold positions and take steps with assistance. She can say ‘hiya’, ‘yes’, ‘ma’ and ‘da’ and has an Eye Gaze computer to help her communicate.  Emilia has even started to learn colours on her Eye Gaze. Her favourite colour is blue. 
Looking back at her regression and how I felt at the time, I don’t blame myself for any of those emotions. I just wish I knew then that our lives were not over. Our lives are just different and like I had done many times in my life before Emilia, I adjusted to that to that change.  We do our very best by Emilia and fight for her every day. We go to all different kinds of therapies which she enjoys. We do not know what the future holds but we take each day as it comes and get on with our new normal. We have found strength in ourselves and each other that we didn’t even know existed.

After diagnosis, we found Reverse Rett and, for the first time in a year, we had something I thought was lost; we had hope. To know that there is a possible cure that could become available to our girl and other chidren with Rett Syndrome in the not so distant future is almost to good to be true….but it is a very real prospect. The support we have received from family, friends, Rett Facebook groups and Reverse Rett has been invaluable. Our family and friends have been fundraising for Reverse Rett since Emilia’s diagnosis. We will continue to do so until a cure is in our hands.