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Story Time - Charlie

In 2019 I found out that I was expecting my first child, a planned but equally unexpected surprise. Months earlier I had met my boyfriend and was told I had symptoms of endometriosis. We were over the moon to find out and with each passing week, scan and bump kicks we felt like we were living our dreams. At the same time my Dad was going through genetic counselling for a rare condition called Huntington’s Disease. Maybe I was naive or maybe I was just so high on cloud nine I didn’t take much notice on what a genetic condition in the family truly meant. Coming out of an abusive relationship, falling in love and embracing this new journey felt like for once I didn’t have to worry. But that was all about to change. I couldn’t change the fact I was pregnant or the timing of my Dad decision to get tested and it something I had battled with alongside anxiety and depression. I went to perinatal mental health classes struggling to find someone who truly understood what I was going through. Then came the day my son was born.

Similarly to how I didn’t plan to fall pregnant so quickly, I didn’t plan how he would make his grand appearance. A small rupture, induction, a cord wrapped around his neck twice and struggling heartbeat. A classic caesarean case. All I can remember is the silence of his first breaths and the wait to finally hold him for the first time that felt like forever. All my life I planned as much as I was always prepared but this able to all change. Those first few weeks I felt untouchable, absorbed in happiness and running on empty but this love was something I quickly becoming addicted to.

Then came the day everything changed. You might be thinking again classic perinatal dilemma but no this isn’t your usual scenario. A family barbecue of celebration to a diagnosis reveal. Hearing my dad tell me he was gene positive was soul destroying but the worse part was knowing I didn’t have time to grief or think, I had a 3-month-old baby to feed and care

for. How do I walk into that room and look into my son’s eyes knowing he is now at risk. How do I tell him it’s all going to be ok when I just don’t know anything anymore? That was the first time I truly realised that there are things in this world I can’t protect him from. Days turned into weeks and months thinking of my Dad, then my son and researching everything about HD. Huntington’s disease is a rare genetic disease that affects one in ten thousand people. When a parent inherits the disease, their children have a 50/50 chance of inheriting too. Imagine Alzheimer’s, Parkinson’s and Motor Neurone disease working simultaneously together that my friends is Huntington’s Disease. A condition that doesn’t discriminate any age, gender or background. A disease that has no cure. At no moment did I ever think about me, it was about my little baby, my miracle. A bundle of joy I started to try and not fall madly in love with in case I lost him. Each milestone he achieved, every smile and laugh were overshadowed with anger, frustration and loneliness. Why didn’t I know this disease existed? Why do I have to wait until he’s 18 to find out if he’s gene positive? Who else is there that truly knows what I am going through? In a world where people can decide to be anyone or anything why do I have to wait to see my son’s DNA fate when I made each strand?

I was put on medication, referred to perinatal mental health groups but grew increasingly stressed with the lack of understanding. I knew I needed to do something. I needed to shout and let my story be heard. I become the person I needed the most.

I decided to start a blog, You, Me and HD. I began writing personal letters to my family and partner outlining my fears, feelings and determination to not let this situation take over our lives. I owned it to my son to let him see that his Mummy was helping to make a difference, so that one day maybe I could save him. I started to become paranoid and have nightmares of something happening to me and missing out on my child’s life. I watched videos and

started finding parents like myself and became scared. I knew I needed to find out if I had the disease as it was the only way I could maybe find peace. I studied the odds of 50/50, knowing that one side could free me of my pain and mental battles or enhance them and remain with me for a lifetime. My son saved me each and every day. Every post, conversation, word was all for him. I found some sort of comfort knowing although he couldn’t understand me, I was leaving a path of letters to help him find his own way in time.

This journey has been in no way easy I had to accept that in this tragic turn of events I had something to live for even if at times I didn’t want to be here anymore. My son gave me the courage to be brave and go against the odds and find out.

On November 4th, the day before I find out my result, I publicly shared my son’s letter.

“To My Son,

This is the letter I have been avoiding all this time. Although I have written to you in secret, I haven’t been able to let them out because then it becomes real. You look at me to help you, comfort you and teach you but there are somethings unfortunately I don’t know. Right now, you are unaware of that in a few days our world might change. In times like these I want you to know only two things, hope and love. If anything, I pray that one day we can look back and laugh at how worried I was and know this was only a moment in time. However, if it isn’t, I want to do something I have failed to do so many times. I want us to not worry. I want you to not inherit that trait from me. I want you to enjoy and embrace life without a second thought. I want you to push yourself to go out of your comfort zone and to not be afraid. More importantly I need you to look at me and know I’m not scared anymore. You have and still continue to save me each and every day from all my doubts, my failings and myself. You being brought into this world at this time was destined. I am blessed every day and count my lucky

stars your mine. But you deserve more. I need to accept that there are just somethings that happen in this world that I can’t change or have control of. I can’t wrap you up in cotton wool and keep you in my arms forever. You need to live and you need to make your own mark. You will do amazing things regardless of what this week brings and I will be there beside you looking on, not holding you back. However long we have, whether that be only tomorrow or 50 years, each minute, each hour, each day I will make sure you know just how amazing and beautiful you are. Yes, life can be complicated, challenging and random to say the least but we have each other. We are already richer then so many and have more than enough. This week might change our journey but it will never change us and where we belong.

To my darling boy, just live and be happy.

Love you always and forever

Your proud Mummy x”

On the November 5th 2020, I found out I had tested negative for Huntington’s Disease. My son, my Dad’s first grandchild was no longer at risk. I never knew just how heavy the physical and mental weight was until it disappeared that day. Yes, I was lucky, but this doesn’t change my Dads fate, brothers and other family members. That’s why I carry on.

This is what You, Me and HD is about and people need to know what rare genetic diseases are out there and support those affected. Today I am proud to say that I have become the person I needed desperately a year ago. No parent, mother or father should have their perinatal journey be clouded by more stress, anxiety and fear. Having a child whether it’s your first, second or last is hard enough. We know it’s not always sunshine and rainbows but if people understood some of the storms, we have to face we wouldn’t feel so alone.

To my amazing son, Cian I dedicated this to you.

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