Tell us about yourself and the patient in your life:
Emmy is now 11 years old and lives in Cumbria in the Lake District, England. She is the most laid back, happy, sweetest, loving little girl.
She always manages to smile on her bad days and takes everything she goes through in her stride.
Emmys favourite things, are hugs, crinkly things such as wrappers to fiddle with, music, bells, her mummy singing and spending time on her feet walking about. I’d say her little brother too but he’s a bit too noisy for her right now!
Emmys first noticeable seizure was when she was 2 weeks old and they haven’t stopped since. She used to have up to 100 per day between 2 weeks and 2 years and they have reduced over the years to maybe 12 per month. She has always had a severe form of epilepsy. She failed all AEDs she was ever given. We have tried over 10 AEDs, but now we rely on buccal lorazepam to stop her cluster seizures. Because of her frequent seizures it has left her with many other health conditions to deal with on a daily basis. During, Emmys wonderful seizure free days, she manages lots of activities and eats all her meals.
Emmy is nonverbal, but very social. She loves interacting with people. She has never been able to walk independently but is strong on her legs and in her torso using a gait trainer moves well. Though seizure days take energy out of her and she is unable to weight bare for a day or two after each seizure. She has always lacked strength in her arms and upper body to help transition herself.
What is your hope for the future for your loved one:
My hope is that we can find a treatment for SMC1A, so that these girls can live a happy, healthy, seizure free life.