Macsen was born in 2011. We had no idea what the future held for his health- his birth was uncomplicated as was the pregnancy. Straight away he struggled to feed. I knew almost instantly that something wasn’t ‘right’ but spent the next few months battling with doctors just to get him some kind of diagnosis.

Fast forward six months- by now he couldn’t sit, hold up his head, grasp things and made a really loud sound when breathing. He also had awful reflux which made feeding impossible, even with his newly in place nasogastric feeding tube. I also suspected his eyes weren’t ‘seeing’ as he couldn’t focus on things and each eye seemed to move independently.

At six months, on our eldest sons 4th birthday, he was diagnosed with quadriplegic cerebral palsy as that seemed to fit his presentation. We were devastated that the future we had planned out for our baby boy would now be very different. We treated his symptoms as they progressed with physiotherapy, medications, occupational therapy and many other therapies. All the while we had a feeling that his condition wasn’t cerebral palsy and something else!

A year later, my husband found a study taking place into the genetic causes of epilepsy and signed Macsen up to it (he had now developed epilepsy). One day a professor came to our house, measured our heads and took blood samples. Then we forgot about it as time went on and continued learning to live with Macsen’s disabilities and helping him as best we could.

When he was 5 1/2, a letter dropped onto our doormat inviting us to meet the professor we’d forgotten about! By now Macsen was having intractable seizures every day (they started around 1), he had a wheelchair, was unable to verbally communicate, had been diagnosed with cortical visual impairment and needed 24 hour care.

The professor told us they’d discovered what Macsen’s condition was! It was called GRIN2a and he was one of the first to be diagnosed in the UK! We were thrilled that we finally had a diagnosis and learned as much as we could about this newly discovered genetic mutation. Not an easy feat as Macsen was much more complicated than the limited search results Google gave us. He doesn’t have autism but is unable to communicate verbally and does have uncontrollable seizures.

Learning about GRIN2a has enabled us to tweak medications and try ones more suited to work with his condition. As he’s got older his condition has worsened, he now has breathing problems and scoliosis also, but we are much more comfortable in dealing with them.

Macsen has the most cheeky personality- he’s learned to eye point to tell us what he wants and has learned some limited signs. He is so much fun when he’s well and is always laughing and smiling. He loves nothing more than being cheeky and playing with his older brother. He loves to watch Pokemon and Spiderman and really loves dinosaurs.

Macs does have a lot of unwell days but we’ve learned to savour the good days and never look to the future- just deal with each day as it comes, there is always something good in every day.