They are my whole world.
They have Labrune Syndrome. They are 2 of only about 35 people that have ever been diagnosed with Labrune Syndrome. My girls are the only 2 people that have been diagnosed in Canada. It presents as progressive calcification and cysts on their brains. As it progresses it impacts their cognitive capacity, fine and gross motor skills, growth, development, appetite, ability to eat, increased seizures, intense headaches, over all muscle strength, ability to walk unassisted...it just continues to impact every part of who they are without a sign of stopping. It is a heartbreaking reality.
Ayva is losing the ability to use her dominant hand, she is having difficulty with her left leg, she very recently (yesterday!) had a tonic clonic seizure that now prevents her from having the independence that she so desperately craves. She is on medication to manage the seizures but is battling an internal fight that is so hard to watch. She can’t understand why her body is failing her in this way. She is constantly grieving the loss of the skills she had and the goals she had previously made for herself.
Halla is impacted differently and more visibly. She needs assistance to walk. She is unable to use her left arm/hand and has minimal strength in her left leg. She also is on medication for seizures. She is in a specialized class at school. Her functioning level is declining quite quickly. The medication she is on is weakening her muscles and I suspect she will need further assistance with walking or moblilty (walker or wheelchair) soon. Her body is just not strong enough to do the activities she once did. She has had open heart surgery and brain surgery...and the likelihood of further brain surgery is very high.
People have asked over over the years how they can help...my answer has always been “I have no clue”. This is based on how rare the disease is and how unpredictable it can be. I have never known what would be helpful or not. My girls have an amazing medical team that work to help manage some of the symptoms...but there is no cure and no treatment...yet.
I have been talking with another other parent in the USA who’s son was diagnosed with Labrune Syndrome. His medical team is out of the Children’s National Medical Centre in Washington, DC...and that team has initiated some serious research. I have been in contact with the medical team and they are passionately working on treatment ideas! This is the first sign of hope we have received in a long time.
So I am hoping to help raise funds to go toward that research. To help my girls in a way that could potentially benefit them in the long run. There has to be some way to slow this down and allow the people who have this terrible genetic disease a shot at some normalcy.
Thank you for reading our story! Feel free to donate to the fundraiser and share the link with other lovely people.
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