Mia

Mia is a beautiful princess that loves everything girly. She lives with her family in Nottinghamshire/Derbyshire. Kayleigh, Mia's mum, shares their Dravet journey below.

Kayleigh tells us, "Mia was born 2 weeks early via C section because she was breech, she was a tiny tot weighing 5lb 13 1/2 oz, which scared me as Rhys was nearly 8lb. Little did I know her being tiny and not sleeping from day one was the least of my worries.

When Mia turned 4 months old she caught a cough and cold. I noticed that Mia was very quiet all day and not her usual smiley self. I went to bed early with Mia that night about 9pm. At 12.15am I woke to Mia fidgeting in her cot next to me, it didn't sound like a normal movement. I walked to her cot and Mia made a noise like a panic cry and then all her limbs did a big jerk. I felt my heart skip a beat. I whipped her out of her cot, I always took calpol to bed as febrile convulsions, I did know about. As I stripped her clothes off she did another two jerks. I immediately gave her calpol and as she did her last swallow she went into a massive tonic clonic seizure! 

As my partner called an ambulance, I was sat with Mia on my shoulder looking at me. She was trying to smile at me and her eyes were blinking as fast as she was seizing. I was weeping saying 'it's alright baby' but thinking she's going to die.

I tried to stay strong for her and not cry too much but tears were streaming down my face. They got Mia into resus and the seizure lasted 45 minutes. For the next 48 hours she had lumber punctures, MRI scans, regs and blood tests, etc. It took forever but we came home four days later with febrile convulsions!

We thought that would be the end of it, we bought a thermometer and kept on top of calpol. A month later it happened again and again the month - exactly the same. The seizures then happened weekly. We went crazy at the doctors and demanded more answers. We knew they weren't just febrile seizures. 

When Mia was 7 months old and she was put her on clobazam, with a diagnosis of epilepsy pending the results of a genetic test. Just before Mia's first birthday the results confirming she has the SCN1A gene mutation. Eventually, we got the diagnosis of Dravet Syndrome, and after reading about it and researching everything our world shattered. 

At 15 months old we went through a very bad week - new types of seizures had started including absences, focal seizures, myoclonic jerks and tonic clonic seizures. It was just non-stop for her. Mia couldn't fight any longer she was too tired I could see her getting weaker and weaker... I got her into the ward. I was so worried holding her, the nurse said she would be back in a minute, but I didn't want her to leave me, I knew Mia was going to go into a massive seizure any minute, she was holding me so tight and then the jerks started! 

I held her until she went fully into tonic clonic, pushed the emergency button and laid her down on the hospital cot. It lasted 2 hours, she was so tired. I watched them drill into her bones in each leg trying to get lines in. She had one in her neck, one in her hand, but nothing was working - she was too far gone and too exhausted to fight anymore! They then called for the emergency anaesthetist and she was ventilated! Absolutely heart breaking.

Our baby just needed a break and needed sleep; she was asleep for 72 hours. Mia woke up and she fought for 2 weeks, she came out of QMC much brighter and was put on stiripentol also. They were called the 'Magic 3'.

After 4 months at Christmas Mia went into a status seizure and slept for six week on and off, until the last two weeks she didn't wake up at all! Then in March 2016 she did it again. This time I wouldn't take her home until I got answers so they did lots of tests, she ended up being tube fed and had to have platelet transfusions and X-Rays, etc. Her sodium valporate levels were 152 and, to everyone's horror, they should have been 9! They swapped her to Keppra.

After this, we reached a milestone of going six months without rescue meds and Mia started walking and talking/babbling again. She still has seizures every week but are lasting only a couple of minutes.

Now Mia is older, she is so beautiful and precious, but also exhausting, it effects every day life for all of us. We try our best to keep things as normal as possible especially for Mia's brother Rhys. He adores his sister and would do anything for her. When we have long hospital stays we don't get to see Rhys much but we are so lucky he's such a good, loving, caring and understanding boy.

We say she is doing amazing at the moment even with little seizures but we also say she is like a ticking time bomb, we never know when Dravet is going to hit her big again!

I never prayed before having Mia... I now pray with my life...

Mia is one beautiful Dravet warrior".

Postscript: A picture of Mia from Summer 2020, still doing well and growing fast!