Elly’s Story
Elly is an 8-year-old girl from Sweden. Her mother, Cecilia, describes her as brave, extremely smart, funny, empathetic, beautiful, and loving. She lights up every room she walks into. With everything she has been through, Cecilia is amazed by her overwhelmingly positive view of the world.
Elly started talking at a very early age, and today she speaks like a grown-up. When you talk to her, you have to remind yourself that she’s only 8 years old. She has an incredible memory and loves math! Every day, she wakes up excited to go out into the world and learn more about anything and everything. Cecilia says, “She is the absolute best girl in the world. I wish everyone could have the pleasure of knowing her.”
History
It became apparent from birth that Elly had developmental delays, but our concerns grew stronger when she struggled with something as simple as sitting on her own. She never crawled. Instead, she had a weird (but cute) way of hopping around on her butt to make her way through the world! Elly took her first steps at almost 2 years old. She has always had difficulty coordinating her movements, which makes her very clumsy.
When Elly was just 3 weeks old, we noticed that she often seemed very absent. Later, she reacted strongly to every vaccine, which made us increasingly worried. Her immune system was very bad; she got sick every other week! She would scream in pain trying to go to the bathroom (number 2), and no one could explain why.
Elly’s doctors became concerned because she couldn’t walk, started having seizures, and experienced significant pain without any clear medical explanation. X-rays, blood work, MRIs, and even bone biopsies all came back normal. For three years, we had no idea why Elly was struggling so much. As a last resort, her doctor suggested we do one last thing: genetic testing! If that came back clean, they couldn’t do anything else. Then one day in 2021, the phone rang, and they said they found something. A few days later, Elly was diagnosed with a CACNA1A mutation of unknown significance.
Diagnoses
Migraines
Epilepsy
Ataxia
Nystagmus (not too much)
Autism
Elly is aware of her seizures, and that is something she finds very difficult. She is often scared of having a seizure at school or while visiting a friend’s house. She also experiences daily headaches and is very sensitive to temperature changes, lights, and smells. Because of this, she often needs to rest, which can be hard for her emotionally.
She frequently talks about feeling different from other children her age. One thing she notices most is that she cannot run as fast as everyone else.
Therapies/Education
We noticed early on that Elly experienced fewer seizures when following a gluten-free diet. She now takes medication to help prevent both seizures and migraines. We have also worked with physiotherapists to help improve her motor skills.
Since Elly only recently received her autism diagnosis, we are still learning what supports will help her most. For now, she always has an extra adult nearby to keep an eye on her, help support social interactions, and make sure she doesn’t get too warm.
What Elly Wants You to Know
Cecilia would like readers to know that this is not Elly’s whole story. Out of respect for Elly’s privacy and integrity, some parts of her journey are still being kept just for her family, for now. These are the parts Elly wanted to share.
There is one thing Elly said that Cecilia especially wanted to include:
“Tänk om alla kunde inse att annorlunda inte betyder att något är sämre, då tror jag världen skulle vara bättre.”
Roughly translated into English:
“What if everybody could realize that being different doesn’t mean something is worse? Then I think the world would be a better place.”
And one last thing: Cecilia and Elly would like you to listen to the song ”Goliat” by the artist Laleh! It’s a beautiful song that has helped them many times
For Those Newly Diagnosed
Don’t be afraid to be a pushy parent; you know what your child needs! You don’t have to go through this alone! There are so many other people going through what you are. Don’t be afraid of asking for a second opinion if something doesn’t feel just right! You got this 💛