A reminder popped up in my phone today was 13 years since my dear Nan passed. How I miss this woman, she was such a character, always up to something. She was such a big part of my childhood from holidays we spend together filled with nights in the Sun centre in Rhyl to the nights at the local pub. My Nan was a madam, she would tell you as it was, how many times she told me I  should be nice to my husband because I was lucky to get someone to have me. Now this could have been hurtful but with my nan you knew it was meant with love. My girls loved their great nan and she loved them even if she refused to call Eden by her given name, “evil edna”  she said due to my child’s fiery temper, I guess at times that name certainly fitted. I miss my visits with my Nan even though after ten minutes she would be asking me when I was leaving or “do you have somewhere else to be”. She had her ways and her charms and I loved the very bones of her.

 

I cant actually believe its been 13 years now, I remember the day as vivid as if it was yesterday. It was a hard day, Livvy was suffering with her seizures and reflux, I was so tired and my husband had just started a new job that was leaving him exhausted and grumpy. I had dropped the girls to school and was home alone when the postman dropped four letters through the door. Isn’t it strange that I can remember it was four, one from the bank, another the council the third was junk mail and the fourth was from the children’s hospital. It was now a month since the neurologist had told us that Livvy had Rett syndrome and I was slowly trying to get my head around the diagnosis, trying to understand what this meant to us as a family, what it meant to Livvy. I wasn’t in the right place then, I wasn’t in a good place. I was still so angry, so lost, so when I opened that letter my heart just broke, there in black and white was the official diagnosis the genetic test was back and the results showed without any doubt that Livvy had the mutation on the MECP2 gene and she had Rett Syndrome.

I couldn’t hide anymore, I couldn’t cling on to the last ray of hope, it was gone, it was true. I had the answers to the questions of her deterioration, her seizures, her movements but it was the answer I really didn’t want.

Rett Syndrome

Dear Mrs Meredith 

After seeing Olivia in clinic we send her bloods off for testing for the genetic mutation of Rett Syndrome, we have now had the results which confirm my clinical diagnosis. Olivia has Rett Syndrome.

We will arrange for a follow up appointment in the next few weeks but any questions you have please contact me on the above number. 

Many thanks 

 

Many thanks ???

No thanks, no thank you, not today, not this syndrome, not my Livvy.

I think i just sat on the stairs and cried, my heart breaking there and then. This wasn’t fixable, there was no cure and at this time there was barely any information and most of it out there was so sad, so scary.

She didn’t deserve this.

Why my Livvy?

Yes I remember this day so well, I remember Alan getting home early just to hold me tight, to hold each other. I think Alan had moved further forward with his acceptance since the clinical diagnosis but I needed evidence, i needed proof.

Well I had it now didn’t I !

I wish I could tell you that there and then I made peace with the diagnosis that I accepted Rett Syndrome into my life. I didn’t i just cried and cried.

Then the call came, my Nan had passed away, my beautiful nan’s heart had finally given up. I think that right then and there I would have happily joined her, I was so lost. How do I move forward knowing that there was a good change i would outlive my own child? How do you move forward with this knowledge?

All I know is that I didn’t want to be brave, I didn’t want to find peace, I was angry, I was hurting I was lost.

13 years ago, 

My fears that day was realised I did lose my beautiful daughter to Rett Syndrome, I do have to live with the knowledge that I outlived my child, yet I know now how very blessed I am. I got to be Livvy’s mom, I got to walk through Rett syndrome with her and yes whilst it may have won the final battle for Livvy, I am not giving up on others. The beautiful girls and boys that are fighting this everyday, the heartbroken parents hearing this diagnosis today, tomorrow. I will continue to fight for this awful devastating disease to be no more.

I may have been lost 13 years ago, I may still grief desperately for my Olivia and my wonderful nan but I do take comfort today in thinking about the chaos they are causing right now in heaven. I’m quiet sure my nan would test even Jesus’s patience. I’m a hundred percentage sure that Livvy is causing mischief.

13 years feels like an eternity at times but right now this day feels a heartbeat a way and whilst I am allowing myself to reminisce I am moving forward with determination and hope. One day that letter will not fall through the door of unprepared parents and even if it does it will not come with the fear and dread that filled my heart, it will be filled with hope of treatment and a cure. One day this will happen.