Mary is a happy little girl and lives with her six siblings in our very busy household.
Mary is just five years old, but has faced lots of challenges in her young life and it’s been quite the journey to reach the point of diagnosis for her – with three key diagnosis milestones along the way. At only five months we were told she had hydrocephalus, with a further diagnosis of Macrocephaly Capillary Malformation at 19 months old. Soon after, at around two, Mary began suffering with seizures in earnest, though it was years later in February 2019 that we finally got the dual diagnosis of Megalencephaly Polydactyl Polymicrogyria Hydrocephalus Syndrome – due to an extremely rare genetic mutation.
Mary will have little absences daily – minor seizures – but these don’t trouble Mary or myself. However, when she has large seizures, approximately every eight weeks, she requires rescue medication and we need to call an ambulance. Recently, she has needed two general anaesthetics in order to stop the seizures. It is terrifying when it happens. Sometimes we have warning that it is coming, and sometimes it just comes out of nowhere.
As a result of Mary’s condition she is only able to communicate with us in tiny amounts. She can say the words “choccie” and “milk” – very important choice words I’m sure you’ll agree! She’s also learnt to say “turn the page” recently, which makes for precious family time reading.
Despite her conditions, Mary is a force of nature. She loves singing and will sing along to her favourite songs.
She’s recently been introduced to Disney by her big sister Grace, which gives her a whole new repertoire. Mary is thoughtful and appreciates the little things, like the wind which makes her giggle, and listening to the birds.
Mary goes to a specialist educational school and over the last few months we have gradually built up her hours so that she attends school full time. My first contact with Together for Short Lives was in September 2018 when I called the Helpline. I was so worried about Mary starting school and so I spoke for an hour about my fears. It made a tremendous difference, having somebody to listen. Thankfully, Mary’s school has been incredible. I was so worried about letting Mary go, but their support and care has really made a difference in my confidence in sending Mary out every day.
Due to Mary’s requirements, we face a lot of challenges. There are six other children at home and I want to make sure they all get attention. Mary takes a lot of time of course, especially when she is in hospital, and I worry that her brothers and sisters are missing out on time with me.
That’s where our local hospice comes in. In 2018 we visited Hope House Hospice for the first time and the whole family came along, and we were assigned a member of staff to Mary which gives me a little extra time to be with Mary’s siblings. The hospice has a lovely playground and sensory room. It also has a pool and access to a local farm park which we used. We had a great family day. Hope House has also provided sibling support and looked after my twins at Alder Hey when Mary has been in intensive care. They have also sent staff to support the younger ones when we have been at our local hospital. This was invaluable.
I worry everyday about Mary. There is always that thought: “Will her next seizure be today?” And then the long-term worry about her future. We don’t know what her prognosis is. There is the fear that one of these seizures might not end up being controlled. I know I should just be enjoying each day but it is always in the back of my head.
Despite all of the worry though we absolutely adore Mary. She brings happiness to the entire family. She is a true blessing.